Paeds Flashcards
What is the definition of sepsis?
Generalised inflammatory response, defined by the presence of 2 or greater criteria (abnormal temperature or WCC mist be one of the criteria):
- abnormal core temperature (<36 or >38.5)
- abnormal HR (>2 SD above normal for age, or less than 10th centile for age if child aged <1 years)
- Raised RR (>2 SD above normal for age, or mechanical ventilation for acute lung disease)
- Abnormal WCC in circulating blood (above or below normal range for age, or >10% immature cells)
What are the red-flag signs for sepsis?
Clinically based criteria to diagnose high-risk sepsis –> immediate sepsis 6 pathway
- hypotension
- prolonged cap refil >5 seconds
- O2 needed to maintain sats >92%
- AVPU = V, P, U
- Blood lactate >2mmol/L
- Pale/mottled or non-blanching rash
- RR>60 or >5 below normal or grunting
- Abnormal behaviours (dry nappies, lack of response to social cues, significantly decreased activity, weak, high pitched)
What is sepsis?
SIRS in the presence of infection
What is severe sepsis?
Sepsis in presence of CV dysfunction, resp distress syndrome or dysfunction of >/= 2 organs
What is septic shock?
Sepsis with CV dysfunction persisting after at least 40 mL/kg of fluid restriction in 1 hour
What are the common organisms that cause sepsis?
- GBS and E.Coli, L. monocytogenes (early onset neonatal sepsis)
- Coagulase-negative Staph (CoNS) - staph epidermidis - (late onset neonatal sepsis)
Other orgs:
- Staph Aureus (Coagulase +ve) (Non-pyogenic strep)
- Strep pneumoniae
What is the investigations for sepsis?
- Clinical suspicion (diagnosis cannot be delayed)
- Bloods
What are the risk factors for neonatal sepsis?
- PROM/PPROM
- Chorioamnionitis (ie fever during labour)
What is the management of sepsis?
- Paediatric sepsis 6 within 1 hour and transfer to acute setting (+ continuously monitoring, review hourly)
- IV access (If failed after 2 attempts give IO access)
- Review by ST4 or above (<30 minute) and then consultation (<1 hour)
- LP in the following = <1 month, 1-3m who appear unwell, 1-3m with WCC <5 or >15x10^9
- IV fluid restriction + 20mL/kg 0.9% NaCl bolus over 5-10 mins
- CXR, urine dipstick on MSU
Bloods:
- Clotting (as DIC can feature in sepsis)
- Blood culture
- CRP (takes 12-24 huors to rise)
- VBG (including glucose and lactate) - ASAP
- FBC
- U&Es and creatinine
What antibiotics are given in sepsis?
Give within 1 hour and follow local guidelines:
If meningococcal sepsis:
- IM benzylpenicillin (in the community)
- IV cefotaxime (in hospital)
If other type of infection .. GOSH child ABx treatment:
- early onset <72 hours –> GBS, L. Monocytogenes, E. Coli –> IV cefotaxine, amikacin+ampicillin
- late onset >72 hours –> CoNS –> IV meropenem, amikacin+ampicillin
What are the signs and symptoms of CNS infection in a child?
- Bulging fontanelle, hyperextension of neck and back (opisthotonons)
- Headache, photophobia, neck stiffness, fever
- Kernig sign - pain on straightening the leg
- Brudzinzkis sign - supine neck flexion –> knee/hip flexion
- Lethargy, drowsiness, non-blanching rash (80% of meningococcal)
- HR starts high to compensate ischaemia in the brain
- HR then drops as baroreceptors in heart sense high BP (from HR)
- Raised ICP symptoms (late signs) = Cushings triad
- High BP, low HR and irregular RR
What are the investigations for CNS infection in a child?
- LP (CT head before Lp if concerns of raised ICP)
- Blood culture (an LP would be done before this)
- FBC, CRP, U&Es and glucose
- Coagulation profile
- Further immunological analysis (complement deficiency) if >1 episode of meningococcal meningitis
What is the management of CNS infection in a child? (bacterial meningitis, child >3 months)
Admit to hosp and follow sepsis 6 pathway 1) Antibiotics: Child <3 m old: - IV cefotaxine - IV amox/ampicillin
Child >3 m old:
- IM benzylpen, STAT (if penicillin allergy –> moxifloxacin & vancomycin)
- IV ceftriaxone:
•Neisseria meningitidis (meningococcal meningitis) – 7 days
•Neisseria meningitidis (meningococcal meningitis) – 7 days
•Haemophilus influenzae type b – 10 days
•Streptococcus pneumoniae – 14 days
2) Steroids (dexamethasone), if CSF shows:
- Purulent CSF
- WBC >1000/uL
- Raised CSF WCC + protein >1g/L
- Bacteria gram stain
- >1m & H. influenzae
- NOT MENINGOCOCCAL
3) Mannitol (reduce ICP)
4) IV Saline NaCL 0.9% (4-2-1 maintenance)
Notify HPU, review patient 4-6 weeks after discharge, discuss long term complications
What are the long term complications of CNS infection in a child?
- Hearing loss (audiological assessment)
- Neurological/development problems
- Orthopaedic, skin, psychosocial complications
- Renal failure
- Purpura fulminans = the haemorrhagic skin necrosis from DIC = acute/fatal, thrombotic disorder, manifest as blood spots/bruising/discolouration of skin (needs FFP, debridement or amputation)
What do you treat the contacts of a CNS infection in a child?
Ciproflaxacin and offer support www.meningitisnow.org
What is the most common org of viral meningitis?
- Coxsackie Group B
- echovirus
What is the management of viral meningitis?
- Discharge home (after tests to exclude bacterial causes) with supportive therapy (i.e. fluids)
- Safety net
What is encephalitis?
Inflammation of the brain parenchyma
What is the aetiology of encephalitis?
- Direct invasion of cerebellum by neurotoxic virus (e.g. HSV)
- Post-infectious encephalopathy of delayed brain swelling following neuroimmunological response to antigen
- Slow virus infection (e.g. HIV or subacute sclerosing pan-encephalitis following measles); in UK:
Most common UK:
• Enterovirus
• Respiratory viruses (influenza)
• Herpes (HSV (rare cause of childhood encephalitis), VZV, HHV-6) (>70% mortality from untreated HSV encephalitis)
Other = chickenpox, bacteria & fungus (very rare), mosquitos (Japanese encephalitis), ticks (tick-borne encephalitis), mammals (rabies encephalitis)
What are the signs and symptoms of encephalitis?
- Same as per meningitis (may not be able to differentiate clinically - begin treatment for both)
Main:
- fever,
- altered consciousness, seizures (differentiate potentially by behavioural change)
What are the investigations for encephalitis?
Same as meningitis.
LP contraindications:
- Cardiorespiratory instability - Focal neurological signs
- Signs of raised ICP (coma, high BP, low HR)
- Coagulopathy
- Thrombocytopenia - Local infection at LP site
- Causes undue delay in starting ABx
- Meningococcal meningitis
MRI: hyperintense lesion, oedema, BBB breakdown
PCR for virus
What is the management of encephalitis?
IV acyclovir (high-dose): - 3 weeks – HSV is a rare cause but complications are major, so treat empirically
IV administration:
- 500mg/m^2 every 8 hours for 21 days (use body surface area calculation)
- Reconstitute to: 25mg/ml with water and 5mg/ML with NaCL
Other:
- CMV –> add in ganciclovir and Foscarnet
- VZV –> acyclovir/ganiclovir
- EBV - acyclovir
Supportive care:
- fluids, ventilation etc.
What is anaphylaxis?
A Type 1 hypersensitivity reaction = antigen cross-linking with IgE membrane-bound antibody of mast cell or basophil
How often does anaphylaxis occur?
- 1;20,000 persons a year and 1;1000 are fatal
- 85% due to food allergy
What are the signs and symptoms of anaphylaxis?
- Airway (swelling, hoarseness, stridor)
- Breathing (high RR, wheeze, cyanosis, O2<92%)
- Circulation (pale, clammy, low BP, coma)
- Skin (urticaria/angioedema)
What is the management of anaphylaxis?
- ABCDE approach
- Call for help
- BLS if unresponsive/not breathing
IM Adrenaline (1: 1,000) – dose as per guidelines/weight:
- Given in thigh
- Assess response after 5 minutes and repeat if needed
Monitoring and additional treatment:
- Establish airway + high-flow O2
- IV fluids (20mL/kg crystalloids)
- IV Chlorpheniramine, 10mg (IM or slow IV)
- IV Hydrocortisone, 200mg (IM or slow IV)
- Salbutamol (if wheeze)
What is hereditary angioedema?
- C1 esterase deficiency
- recurrent facial swelling and abdo pain
What do babies with foetal alcohol syndrome present with?
- Microcephaly,
- absent philtrum,
- cardiac abnormalities,
- reduced IQ,
- IUGR,
- small upper lip
What does cigarette smoking in pregnancy do to a foetus?
- IUGR,
- miscarriage,
- stillbirth
What does rubella in pregnancy do to a foetus?
TRIAD: Cataracts, deafness, cardiac abnormalities
What does varicella in pregnancy do to a foetus?
- Skin scarring,
- eye defects (small eyes),
- neurological defects (low IQ, microcephaly)
What does syphilis infection do in pregnancy?
- Rhinitis,
- saddle-nose,
- deafness (sensorineural),
- hepatosplenomegaly,
- jaundice
What is Pataus syndrome and how prevalent is it?
- Trisomy 13
- 1 in 14, 000 births
- 80% die within the first month of life
What are the symptoms of pataus syndrome?
- Microcephaly (and brain defects)
- Microphthalmia (small eyes)
- Other eye defects
- Cleft lip/palate
- Polydactyl
- Omphalocele / Gastroschisis
What are the investigations for Pataus syndrome?
- USS analysis in 2nd trimester
- Chromosomal analysis from amniocentesis/cffDNA (NIPT)
What is Edwards syndrome and how prevalent is it?
- Trisomy 18
- 1 in 14,000 births
- Many will die in infancy, but prolonged survival is possible
- Associated with Exomphalos / Omphalocele
What are the symptoms of Edwards syndrome?
- LBW
- Small mouth/chin
- Low-set ears
- ‘Rocker-bottom’ feet
- Overlapping fingers
- Intellectual disability
- Cardiac, renal and GI abnormalities
- Omphalocele / Gastroschisis
What are the investigations for Edwards syndrome?
- USS analysis in 2nd trimester
- Chromosomal analysis from amniocentesis/cffDNA (NIPT)
What is Noonans syndrome?
- Autosomal dominant with a normal karyotype (affects both males and females)
- Penetrance varies greatly (from lethal prenatally to minimal morbidity)
- Mutated RAS/Mitogen Activated Protein Kinase
What are the signs and symptoms of noonans?
- Webbed neck
- Trident hairline
- Pectus excavatum
- Short stature
- Pulmonary stenosis – ES murmur
What is Kleinfelter’s syndrome?
- Male with 47 XXY
- 1-2 per 1,000 males live-born
- Normal appearance and normal IQ
What is Turners syndrome?
- Woman with 45X
- 1 in 2,500
What are the signs and symptoms of Turners syndrome in neonates?
- Pyloric stenosis
- Cardiac problems (coarctation of aorta, bicuspid aortic valve)
• AS murmur = ESM over aortic valve - Renal anomalies
- Cystic hygroma (may resolve early skin on the back of the neck)
- Ovarian dysgenesis
What are the signs and symptoms of Turners syndrome?
- Lymphoedema of hands/feet in neonate
- Short stature, spoon-shaped nails
- Wide carrying angle
- Thick or webbed neck
- Infertility
- Bicuspid aortic valve > Aortic coarctation (ESM over aortic valve)
- Delayed puberty
- Hypothyroidism
- Omphalocele / Gastroschisis
What is the management of turners syndrome?
- Growth hormone therapy (plot height on syndrome specific growth charts)
- Oestrogen replacement (at time of puberty for development of secondary sexual characteristics)
What is Fragile X syndrome?
- 1 in 4,000 births; although X-linked, some males can be unaffected and assume the role of ‘genetic carriers’ and transmit the condition through daughters to their grandsons (potentially due to variable penetrance due to genetic anticipation)
- A trinucleotide repeat-expansion mutation
What are other trinucleotide repeat-expansion mutations?
- Fragile X syndrome
- Myotonic dystrophy
- Huntington disease (occurs in a coding region of the genes abnormal protein production)
What are the signs and symptoms of Fragile X?
- IQ 20-80 (mean 50) – 2nd most common cause of low IQ after Down’s Syndrome
- Macrocephaly, macroorchidism
- Large, low-set ears
- Long, thin face
- Other – autism, joint laxity, scoliosis
- Complication: Mitral valve prolapse
What is the management of Fragile X?
Genetic counselling to all fragile-x families
What is PWS?
- Lack of paternal PWS region on CHr 15
What is the alternate name for PWS?
- Angelmans syndrome
- Lack of maternal PWS region on CHr 15
What are the signs of Angelmans syndrome?
- cognitive impairment,
- ataxia,
- epilepsy,
- abnormal facial appearance
What are the signs of PWS?
Fat, floppy, flaccid
- Hypotonia
- Hyperphagia
- Almond-shaped eyes
- Hypogonadism
- Obesity (in later childhood)
- Epicanthal folds
- Flat nasal bridge + upturned nose
- Learning disability
How does the PWS and Angelmans deletion come about?
- De novo deletion in the child
- Uniparental disomy (two copies from one parents, none from the other)
What is the management of PWS and angelmans?
- Growth hormone if clinical evidence of growth failure
- Management of feeding and obesity )ie. lock cupboards)
What is the pathogenesis of Down syndrome?
- Meiotic non-disjunction (94%)
- Error at meiosis, pair of chromosomes 21 fail to separate (one gamete has 2 x 21 and one has none)
- No need to examine parental chromosome - Translocation
- Extra chromosome 21 is joined to another chromosome (usually 14), Robertsonian translocation, parental Chr analysis is recommended, risk of recurrence 10-15% if mother is translocation carrier - Mosaicism
- Milder phenotype, some cells are normal, and some have trisomy 21, formation of chromosomally normal zygote but non-disjunction at mitosis
What are the craniofacial signs of down syndrome?
Craniofacial appearance:
- round face,
- flat nasal bridge,
- epicanthic folds,
- brushfield spots in iris,
- small mouth,
- small ears,
- flat occiput,
- 3rd fontanelle,
- short neck,
- single palmar crease,
- sandal-gap,
- hypotonia
What are the birth medical problems present with down syndrome?
- Congenital heart defects
- duodenal atresia
- hirschprungs disease
- omphalocele +/- umbilical hernia
What are the associated congenital conditions of down syndrome?
- Kostmanns syndrome
- Blood syndrome
- Fanconi syndrome; Diamond Black-fan
- NF 1
- Li Fraumeni syndrome
What are the later medical problems associated with down syndrome?
- Delayed motor milestone
- LD
- short stature
- OSA
- Visual impairment
- Sensory otitis media
Increased chance of:
- TAM
- Hypothyroid and coeliacs
- Early onset alzheimers
- Epilepsy
- Jpint laxity (screen for atlantoaxial instability in those doing sports –> risk of neck dislocation)
What is the immediate management of down syndrome?
- Echocardiogram (AVSD) and evaluation by paediatricians (duodenal atresia)
- Genetic counselling (review chromosome results, discuss risk of recurrence)
- Early intervention programmes if developmental delay is present
• Physiotherapy → prevent abnormal compensatory movements for physical limitations
• OT → fine motor and self-care
• SALT → speech intelligibility and to manage language delay
What is the later management of down syndrome?
- Annual hearing test, thyroid levels, ophthalmic evaluation (up to 5 years then every 2 years)
- Appropriate education placement with an individualised educational plan
- Haemoglobin level for IDA
- Monitor for symptoms of sleep apnoea (OSA)
- Monitor growth using updated Down’s syndrome growth charts
What support can you offer a child with down syndrome?
- Contact local DS clinic, access to local parent support groups
- Down syndrome association → helpline with lists of local groups, new parents pack, info for families and carers (www.downsyndrome.org.uk / National down syndrome society → events and support)
What is hypoxic ischaemic encephalopathy (HIE)?
Occurs if perinatal asphyxia has occurred ( cardiorespiratory depression)
- HIE is the neonatal condition (0.5-1 in 1,000 live births)
- Cerebral palsy is the post-neonatal condition (i.e. Severe HIE that is not treated)
What are the causes of HIE?
- Failure of gas exchange across placenta (i.e. placental abruption)
- Interruption of umbilical blood flow (i.e. shoulder dystocia –> cord compression)
- Inadequate maternal placental perfusion (i.e. maternal hypotension)
- Compromised foetus (i.e. - Failure to breathe at birth)
What determines the grade of HIE?
Response within the first 48 hours
What is mild HIE?
Mild = infant irritable, responds excessively to stimulation, staring eyes, hyperventilation, hypertonia
- Complete recovery can be expected
What is moderate HIE?
Moderate = abnormalities of movement, hypotonic, cannot feed, has seizures
- If fully resolved by 2 weeks of age, there is a good long-term prognosis
- If persistent past 2 weeks, bad prognosis
What is severe HIE?
Severe = no normal movements or response to pain, tone in limbs fluctuates hypo- to hyper-tonic, seizures prolonged and refractory to treatment, multi-organ failure may be present
- 30-40% mortality
- Over 80% have neurodisability (if not cooled) –> cerebral palsy
What is the management of HIE?
Supportive:
- Respiratory support
- Anticonvulsants (treat seizures)
- Fluid restriction (transient renal impairment)
- Inotropes (treatment of hypotension)
- Electrolytes and glucose (treat hypoglycaemia and electrolyte imbalances)
Therapeutic Hypothermia (>36w; mild hypothermia can reduce the morbidity from HIE –> requires NICU)
What is cerebral palsy?
Abnormality of movement and posture, causing activity limitation attributed to non-progressive disturbances that occurred in the developing foetal or infant brain 1 in 400 live births – most common cause of motor impairment
- If brain injury occurs after 2yo, it is diagnosed at acquired brain injury (and not CP)
What are the risk factors for cerebral palsy?
Antenatal:
- preterm birth,
- chorioamnionitis,
- maternal infection
Perinatal:
- LBW,
- HIE,
- neonatal sepsis
Postnatal:
-meningitis
What are the causes of cerebral palsy?
HIE during delivery - ie. during cord compression –> dyskinetic CP
Postnatal PVL (preiventricular leukomalacia) 2nd to ischaemia +/- severe intraventricular haemorrhage
What are the signs and symptoms of cerebral palsy?
- Delayed milestones (it is a progressive disease, it should not result in the loss of previously attained milestones)
- Feeding difficulties (slow, gagging, vomit), oro-motor miscoordination
- Abnormal gait once walking
- Hand preference before 1 year old (esp. spastic unilateral CP)
- Abnormal limb or trunk posture and tone in infancy
Stiff legs, scissoring of legs Unable to lift head
Unable to weight bear Rounded back when sitting
Hypotonia (floppy), spasticity (stiff)
Fisted hands
What is spastic cerebral palsy?
90% of CP
- Damage to UMN pathway —> ↑ tone (spasticity), brisk reflexes, extensor plantar, ‘clasp knife’ rigidity
• Damage to pyramidal (also known as corticospinal) tracts
• “Clasp knife” = increased tone suddenly gives under pressure
• Dynamic catch → faster the muscle stretched, greater the resistance, “velocity dependent” - Presents early, even neonatally as hypotonia
3 main types of Spastic CP:
(1) Unilateral / Hemiplegia → unilateral arm and leg, face spared
- Presents 4-12 months with [think of an Egyptian]
Fisting of affected hand and asymmetric hand function
Flexed pronated arm
With a tiptoe walk on affected side
- Initially flaccid but then ↑↑ tone
- Likely normal PMHx and unremarkable birth Hx (i.e. unknown antenatal cause)
(2) Bilateral / Quadriplegia – all 4 limbs, often severe
- Involving trunk, opisthotonos (extensor positioning)
- Poor head control
- Low central tone → associated seizures, microencephaly, moderate to severe learning disability, history of hypoxic-ischemic encephalopathy (HIE)
(3) Diplegia – legs affected to a greater degree (but all 4 limbs affected)
- Abnormal walking, difficulties with functional use of hands
- Associated with preterm birth damage and PVL
What is ataxic (hypotonic) cerebral palsy?
4% of CP
- Damage to cerebellum
- Hypotonic CP, most genetically determined
- Hypotonia, ataxia, mal-coordination, delayed motor development ± intention tremor
What are the investigations for cerebral palsy?
- MRI: offer MRI if the cause is not clear from history, developmental progress, clinical examination and cranial ultrasound (however, MRI cannot establish timing of injury) – GA or sedation is usually needed
Follow-up MDT - if child has risk factors for CP, offer MDT follow-up for 2 years
MDT Members:
• Main Members: paediatrician, nurse, physiotherapist, OT, SALT, dietetics, psychology
• Supplementary Members: orthopaedics, orthotics, visual and hearing
- Possible early motor features of CP
• Unusual fidgety movements or abnormal movement (asymmetry or paucity of movement)
• Abnormalities of tone (includes hypotonia, spasticity or dystonia (fluctuating tone))
• Abnormal motor developing (including late head control, rolling and crawling)
•Feeding difficulties - Delayed motor milestones (correct for gestational age)
• Not sitting by 8 months
• Not walking by 18 months
• Hand preference before 1 year - Refer all children with persistent toe walking
What are the investigations for cerebral palsy?
- MRI: offer MRI if the cause is not clear from history, developmental progress, clinical examination and cranial ultrasound (however, MRI cannot establish timing of injury) – GA or sedation is usually needed
Follow-up MDT - if child has risk factors for CP, offer MDT follow-up for 2 years
MDT Members:
• Main Members: paediatrician, nurse, physiotherapist, OT, SALT, dietetics, psychology
• Supplementary Members: orthopaedics, orthotics, visual and hearing
- Possible early motor features of CP
• Unusual fidgety movements or abnormal movement (asymmetry or paucity of movement)
• Abnormalities of tone (includes hypotonia, spasticity or dystonia (fluctuating tone))
• Abnormal motor developing (including late head control, rolling and crawling)
•Feeding difficulties - Delayed motor milestones (correct for gestational age)
• Not sitting by 8 months
• Not walking by 18 months
• Hand preference before 1 year - Refer all children with persistent toe walking
What are the red flags for other neurological conditions?
- Absence of risk factors
- Family history of progressive neurological disorder
- Loss of already attained cognitive or developmental abilities
- Development of unexpected focal neurological signs
- MRI findings suggestive of progressive (CP is classically non-progressive) neurological disorder
- MRI findings not in keeping with CP
What is the advice given to parents of children with cerebral palsy?
Information about prognosis to parents (and parental education):
- Walking: children who can sit by age 2 years are likely to be able to walk unaided by 6 years old
- Speech: 50% have difficulties with communication, 33% have difficulties with speech and language
- Life Expectancy: the more severe the CP the greater the likelihood of reduced life expectancy
- Support:
• SCOPE disability charity
• www.cerebralpalsy.org.uk
Paediatrician – medical problems
- 33% have epilepsy
Physiotherapy – encourage movement, improve strength and stop muscles from losing range of motion
- Speech therapy – improve language abilities
- 50% have communication difficulties
- 33% have speech and language
Occupation therapy – identify everyday tasks that may be difficult and help make these tasks more accessible
What are the medications used to treat cerebral palsy?
Stiffness – 1st: diazepam, 2nd: baclofen
Sleeping – melatonin
Constipation – Movicol
Drooling – anticholinergic
What is necrotising enterocolitis (NEC)?
Most common surgical emergency in newborn babies
- Leads to serious intestinal injury after combination vascular, mucosal, toxic and other insults to an immature gut
- Occurs due to immature/fragile bowels; RFs: PDA, pre-term
- Main cause is unknown and thought to be a combination of many factors – thought to lead to a combination of poor blood flow and infection of the intestines – often begins after starting enteral feeding
Who does NEC commonly affect?
Affects premature babies and LBW
What are the signs and symptoms of NEC?
- Early signs = biliary vomiting, feed intolerance
- Abdomen distension
- Blood-stained stool
- Rapid deterioration and shock
What are the investigations for NEC?
- AXR – ‘gas cysts’ in bowel wall
- Blood cultures
What is the management of NEC?
Use ‘Bell staging’ to decide the management:
- Bowel rest (NPO (stop oral feed) and switch to parenteral nutrition)
- Broad-spectrum antibiotics (cefotaxime/tazocin and vancomycin)
- Stage IA/IB (3 days), stage IIA (7-10 days), stage IIB, III (14 days)
- Laparotomy (if perforated as seen on AXR)
What are the long term consequences of NEC?
- 20% mortality/morbidity in the acute scenario
- Development of strictures
- Malabsorption (if extensive bowel resection is necessary)
What are the reasons for neonatal jaundice at birth?
- Physiological Hb release from RBC (high [Hb] at birth) - Breast milk jaundice (only >24hrs)
- RBC lifespan of 70 days rather than 120 days in adults
- BR metabolism less efficient in 1st few days of
How does kernicterus happen?
uBR –> deposit in basal ganglia –> kernicterus (a form of encephalopathy):
- Once albumin saturated and free uBR circulates (fat-soluble)
- crosses BBB and accumulates
- Causes spectrum from severe damage –> death; signs & symptoms:
• Lethargy, poor feeding • Irritability
• Increased muscle tone (arched back)
• Seizures and coma - May develop into cerebral palsy (dyskinetic), learning difficulties and sensorineural deafness
- Was a major problem with Rhesus disease of the newborn (not so much now with anti-D prophylaxis)
- Prevented with phototherapy ± IVIG, and exchange transfusion if required
Visible jaundice seen at 80umol/L
- uBR (fat soluble) –> kernicterus
- cBR (water soluble) –> dark urine, pale stools
How does phototherapy work?
- Phototherapy only works on uBR (converts uBR to lumirubin and photobilirubin) and not cBR. - If you give phototherapy and ‘bronzing’ occurs, then the child has cBR and not uBR and the phototherapy should be stopped.
What are the investigations of jaundice in a newborn <24 hours?
This is abnormal:
- direct (total) BR/SBR (as total BR is UBR)
- blood film analysis
- transcutaneous not appropriate
What are the investigations of jaundice in a newborn 2-14 days?
This can be normal:
- transcutaneous levels of BR (interpret at UBR as not likely CBR)
- blood film analysis
What are the investigations of jaundice in a newborn after 14 days?
This can be normal:
- check direct and indirect serum BR (check if it is UBR or CBR)
What is the cut off for prolonged bilirubin?
- > 14 days if term
- >21 days if preterm
What is the assessment of a child with jaundice?
- Visually inspect the child
Measure bilirubin:
• <24 hours –> serum BR (direct = total BR and indirect = uBR) so can assume tBR = uBR
• 24 hours to 2 weeks –> transcutaneous BR, can assume TC-BR = uBR
- Non-invasive – uses spectroscopy to measure light reflection from the skin
- If the result is >250 μmol/L, check the result by measuring serum bilirubin
• >2 weeks –> split serum BR (direct = total BR, indirect = uBR)
What are the measurement that assess the risk of developing kernicterus?
Increased risk if:
• Serum bilirubin >340 μmol/L in babies >37 weeks’ gestation
• Rapidly rising bilirubin of >8.5 μmol/L per hour
• Clinical features of kernicterus (poor feeding, extreme lethargy, hypotonia, high-pitched cry)
What investigations do you carry out to find out the underlying cause of jaundice in a newborn?
TC or serum BR must be taken within 6 hours of presentation (admit if <24hrs or >7 days):
- Haematocrit
- Blood group of mother and baby
- DAT test (Coombs; if <24hrs)
- FBC / blood film (e.g. hereditary spherocytosis)
- G6PD levels (ethnic origin) - MC&S of blood, urine and/or CSF (if suspected infection)
- TSH, LFTs
- Osmotic fragility (hereditary spherocytosis)
What is the management of jaundice in a newborn?
- No treatment needed if high cBR
(1) Phototherapy (converts uBR into water-soluble pigment excreted in urine) ± IVIG (ABO/Rh haemolysis)
- If 350 total serum BR in term baby
- If 120 total serum BR in premature baby
- Repeat BR measurement every 4-6 hours (until drops below threshold or stable)
- Ensure short breaks for breastfeeding
- Protect eyes
- Monitor temperature
- Stop once BR >50umol/L below threshold for treatment
- Check for rebound hyperbilirubinaemia with serum BR measurement 12-18 hours after
(2) IVIG used alongside in cases of:
- Rhesus disease
- Lower albumin –> lower ability to bind BR
- ABO incompatibility
- Leaky BBB
When is intensive phototherapy given in a neonate with jaundice?
- Rapidly rising serum BR
- Serum BR within 50umol/L of exchange transfusion threshold (after 72hrs of life)
- BR level fails to respond after 6 hours of therapy
When is exchange transfusion + phototherapy + IVIG given to a neonate with jaundice?
- If 450 total serum BR in term baby
- If 230 total serum BR in premature baby
- If signs of kernicterus
Make sure to give folic acid to prevent anaemia
What are resp signs of distress in a neonate?
- High RR (>60)
- Laboured breathing
- Chest wall recessions
- Nasal flaring
- Expiratory grunting (PAP)
- Cyanosis (if severe)
What is transient tachypnoea of the neonate?
- Commonest cause of resp distress in infants (most common in C-section babies)
- delayed resorption of lung fluid
What are the investigations of transient tachypnoea of the neonate?
- Cyanosis, high RR (i.e. >60)
- CXR → fluid in horizontal fissure
- Diagnosis made after exclusion of other causes
What is the management of transient tachypnoea of the neonate?
- Usually settles within first day of life
- Additional O2 if required
What is persistent pulmonary hypertension?
- Life threatening and usually associated with birth asphyxia, meconium aspiration, septicaemia, RDS (may also be primary)
- A result of the high pulmonary vascular resistance –> right to left shunting within lungs and at atrial and ductal levels
What are the signs and symptoms of PPH?
- Cyanosis after birth
- Absent heart murmurs and signs of HF
What are the investigations for PPH?
- CXR = normal sized heart but some pulmonary oligaemia
- Echocardiogram (urgent) = ensure no cardiac defect
What is the management of PPH?
Medications:
- O2
- NO (inhaled)
- Sildenafil
Ventilation:
- Mechanical ventilation / circulatory support
- High-frequency (oscillatory) ventilation
- (SEVERE) Extracorporeal membrane oxygenation (ECMO) ± heart and lung bypass
What is CLD?
Chronic lung disease of prematurity
- CLD occurs when infection, barotrauma or iatrogenic injury causes chronic lung problems
- Lung damage due to pressure and volume trauma from artificial ventilation, O2 toxicity, and infection
- Often defined by an O2 dependence ≤36w GA
When is CLD more common?
- Premature infants, increased risk in LBW or low GA
What are the signs and symptoms of CLD?
- Classically 23-26w progresses from ventilation to CPAP to supplementary O2
- Initially positive response which increases in O2 and ventilatory requirements in first 2 weeks of life
- Signs of respiratory distress, poor feeding, poor weight gain
What are the investigations of CLD?
- CXR –> widespread opacification
- CBG or VBG –> acidosis, hypercapnia, hypoxia
What is the management of CLD?
- Respiratory support = prolonged artificial ventilation –> wean to CPAP –> wean to additional O2
- (±) Corticosteroid therapy – dexamethasone for short term clinical improvement (limit use due to concern about abnormal neuro development and other adverse effects)
How to you prevent ventilation associated lung injury in a neonate with CLD?
- if baby does not need intubation or ventilation, it is important to minimise ventilation-associated lung injury using strict monitoring and maintaining of tidal volume
What is RDS?
Respiratory distress syndrome
- Deficiency of surfactant (phospholipids and proteins produced by type II pneumocytes)
What are the RFs of RDS?
Male, DM mothers (due to delayed lung maturation), CS, 2nd born of premature twins
Common if born <28 weeks gestation
What are the signs and symptoms of RDS?
At delivery or within 4 hours of birth:
- High RR (>60)
- Laboured breathing with recessions and nasal flaring
- Expiratory grunting (baby trying to make +ve airway pressure)
- Cyanosis (if severe)
What are the investigations of RDS?
- Clinical diagnosis
- Pulse oximetry
- CXR –> pneumothorax (from ventilation), ‘ground-glass’ appearance, indistinct heart border
What is the antenatal management of RDS?
- Steroid therapy (delivery <34w)
- Tocolytic therapy so steroids have at least 24 hours to work
What is the postnatal management of RDS?
- O2 and ventilation
- CPAP or artificial ventilation (via a tracheal tube may be necessary ± exogenous surfactant)
- Other options: mechanical ventilation, high-flow humidified oxygen therapy
When can a pneumothorax occur in a neonate?
- Can occur from RDS (or from the ventilation used to treat RDS) –> pulmonary interstitial emphysema
Ventilation-Associated Pneumothorax: to prevent pneumothoraces, infants should be ventilated with the lowest pressures that provide adequate chest movement and blood gasses
What is the management of a pneumothorax in a neonate?
- Immediate decompression
- O2 therapy
- Chest drain if tension pneumothorax
What does meconium aspiration cause in a neonate?
- respiratory distress in the newborn due to presence of meconium in trachea (causing mechanical obstruction and/or chemical pneumonitis –> pneumonia/infection) → occurs exclusively in immediate neonatal period
When is meconium aspiration more likely to occur?
Increased risk with gestational age
What are the RFs of meconium aspiration?
- GA >42 weeks - Maternal history of HTN/PET/smoking/substance abuse
- Fetal distress/hypoxia - Oligohydramnios
- Meconium stained amniotic fluid
- Chorioamnionitis
What are the signs and symptoms of meconium aspiration?
Respiratory distress – increased RR, chest retraction and hypoxia
What are the investigations for meconium aspiration?
- CXR (diagnostic) –> overinflated lungs, patches of collapse and consolidation
- Pneumothorax (from air leak)
- Pneumomediastinum (from air leak)
- FBC/CRP/Culture
What is the management of meconium aspiration?
- Observation = normal term infant with meconium-stained amniotic fluid but no history of GBS
- IV ampicillin and IV gentamicin = features of infection
- O2 and NIV (i.e. CPAP) = severe cases
What is a meconium ileus?
- thick, sticky meconium that has a prolonged passing time
- Meconium usually passes within 24hrs of delivery, if not, there may be an ileus
- The child may vomit the meconium instead of passing it as stool
- Associated with Cystic Fibrosis (90%) and biliary atresia
- 1 in 25,000 babies get an ileus
What is the meconium ileus management?
- 1st line = gastrograffin enema (N-acetylcysteine can also be used)
- 2nd line = surgery
What are the causes of billous vomitting in a child?
- NEC
- Duodenal atresia
- Jejunal/ileal atresia
- meconium Ileus
- Malrotation volvulus
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What us a cleft palate?
- Results from failure of fusion of the frontonasal and maxillary processes; polygenic inheritance
- Types: combined cleft lip and palate (45%) > isolated cleft palate (40%) > isolated cleft lip (15%)
- 1 in 1000 babies
What are the RFs of a cleft palate?
- Maternal antiepileptic use
- Maternal BDZ use
What are the investigations for cleft palate?
- 75% are detected 20w anomaly scan
- Increased risk of secretory otitis media
- Ask about feeding difficulties, weight gain (lower), hearing (otitis media)
What is the management of cleft palate?
o Pre-surgical concerns:
- Specialised feeding
- Watch out for airway problems (e.g. Pierre-Robin sequence)
- Pre-surgical lip tapping, oral appliances or pre-surgical nasal alveolar moulding (PNAM) to narrow cleft
o Surgery (definitive) – 3m for lip; 6-12m for palate
What is a diaphragmatic hernia?
- Part of intestine moves through the left chest area – stops lungs from developing properly (Bochdalek hernia)
- 85% = left-sided Bochdalek hernia –> prognosis depends on… (1) liver position, (2) lung-to-head ratio
- 1 in 2000 birthda occur at 6-8 weeks of pregnancy
What are the signs and symptoms of diaphragmatic hernia?
- Diagnose on routine USS or after resp distress at delivery
- Concave chest at birth
- Respiratory distress in the neonate (RR >60, absent breath sounds, cyanosis, etc.)
What are the complications of a diaphragmatic hernia?
- intestinal obstruction,
- volvulus of stomach,
- acute respiratory distress –> collapse/consolidation
What are the investigations of a diagphragmatic hernia?
- CXR (displaced mediastinum to left, collapsed left lung, bowel loops in thorax)
- Blood gas, U&Es, SpO2
What is the management of a diaphragmatic hernia?
- 1st –> NG tube and suction to prevent distension of intrathoracic bowel and allow breathing to occur
- 2nd –> surgery reduction and repair –> re-expansion of lung –> TPN/ventilatory support during recover
What is a TOF/OA?
- OA = malformation of oesophagus so it does not connect to stomach
- TOF = part of oesophagus joined to trachea; often occurs alongside OA
What type of TOF is most common?
Type C (90%) - Stomach acid can regurge and go into the lungs --> CLD/BPD
What are the associations of TOF/OA?
- polyhydramnios (no swallow),
- other developmental issues
What are the investigations fo TOF/OA?
- NG tube to aspirate stomach contents can quickly confirm/exclude
- Gold-standard –> Gastrograffin swallow
What is the management of TOF/OA?
- 1st = Replogle tube (drain saliva from oesophagus)
- 2nd = Surgical repair (few days of birth/neonatal) –> NICU and ventilator support
What are the complications of TOF/OA?
- Take longer to adjust to solids
- Respiratory complications - GORD
- Tracheomalacia - Feeding issues – stricture formation
What is billiary atresia?
Progressive fibrosis and obliteration of extra- and intra-hepatic trees –> chronic liver failure in 2 years
What are the 3 types of billiary atresia?
- T1 = common bile duct atresia
- T2 = cystic duct atresia
- T3 = full atresia (>90%)
What are the signs and symptoms of billiary atresia?
Obstructive jaundice picture:
- mild jaundice, pale stools, dark urine
- no vomiting
- Normal BW –> faltering growth
- Hepatosplenomegaly
What are the investigations of billiary atresia?
(raised cBR >14 days):
1st = USS –> triangular cord sign
- PT / INR
- LFTs (AST, ALT, ALP, GGT raised – biliary)
- FBC
- GOLD-STANDARD = TIBIDA isotope scan
- CONFIRMATION = ERCP ± biopsy
What is the management of billiary atresia?
- 1st line = Kasai hepatoportoenterostomy (involves ligating the fibrous ducts above the join with the duodenum and joining an end of the duodenum directly to the porta hepatis of the liver)
- transplant if unsuccessful
What are the management complications of billiary atresia?
- growth failure,
- portal hypertension,
- cholangitis,
- ascites
What is done/monitored in first year of biliary atresia?
- F = Fat-soluble vitamins (levels monitored)
- U = Ursodeoxycholic acid promotes bile flow
- P = Prophylactic ABx to prevent cholangitis (co-trimoxazole)
What is small bowel atresia?
- Congenital malformation of the small bowel –> absence or complete closure of a part of its lumen
What is duodenal atresia associated with?
- polyhydramnios (impaired swallow),
- Down’s (33%),
- congenital cardiac abnormalities
What are the signs and symptoms duodenal stenosis?
- no vomiting,
- potential for obstruction
- ‘double bubble’ on AXR
What are the signs and symptoms of small bowel atresia?
- Bile-stained vomiting (jejunal or ileal atresia) – tx as intestinal obstruction until proven otherwise
- Non-bilious or bilious vomiting (duodenal atresia; before or after sphincter of Oddi)
- Abdominal distension
What are the investigations for small bowel atresia?
Bloods – LFT, total serum BR (interpret as uBR), INR, serum amino acids
Urinary – organic acids, succinyl acetone, bile acids, lactate: pyruvate ratio
Imaging – AXR, CXR, USS and cholangiogram, Tc-99m scan
What is the management of small bowel atresia?
ABCDE to stabilise neonate ± NG tube decompression
Surgical:
- Primary anastomosis or Ladd procedure if malrotation present
- Need to examine entire bowel to exclude other multiple atretic segments
What are the complications of small bowel atresia?
- Pulmonary aspiration
- Anastomotic complications (stenosis or leak)
- Proximal bowel may have abnormal peristalsis – may need prolonged post-op TPN
When does small bowel atresia present?
Duodenal:
- <6 horus of after birth
- AXR double bubble sign
- Duodenoduodenostomy
Jejunal/illeal:
- <24 hours after birth
- AXR air fluid filled
- laparotomy
What are urinary tract anomalies in neonates?
Congenital structural abnormalities of kidneys, bladder or urethra
- associated with diff chromosome loci
- PAX 2 gene mutation
What are renal urinary malformations in neonates?
- Multicystic kidneys (AR PKD)
- Medullary spongy kidney
- Renal agenesis - Horseshoe kidney
What are non-renal urinary malformations in neonates?
- Pelvoureteric junction (PUJ) obstruction (2nd to stenosis, atresia of proximal ureter)
- Vesicoureteral reflux (VUR) – in 30% of children presenting with UTIs
- Bladder outlet obstruction
What is potters sequence?
Congenital abnormality in a neonate:
- now set ears
- beaked nose
- prominent epicanthis folds and downward slant to eyes
- pulmonary hypoplasia causing resp failure
- limb deformaties
What does potters sequence have oligohydramnios in pregnancy?
- Bilateral renal angesis or bilateral multicystic dysplastic kidneys
- leads to reduced foetal urine
- oligohydramnios leading to foetal compression
What are the signs and symptoms of urinary tract malformations antenatally?
- oligohydramnios
- decreased foetal UO
What are the signs and symptoms of urinary tract malformations postnatally?
- irritability,
- infections
- Decreased foetal urine output
- Intra- abdominal mass
- Haematuria
- Renal calculi and failure
- HTN
- Hepatosplenomegaly
What are the investigations for urinary tract malformations?
- Renal USS
- DMSA scan (Tc-99m) – detect scarring & functional defects, sensitive so only >2m after last UTI (gives false +ve)
- MCUG (Micturating Cystourethrogram) – visualise anatomy, see VUR and urethral obstruction, not past infancy
- MAG3 renogram (Tc-99m) – dynamic scan to see MAG3 excreted from blood into urine – use furosemide
- Genetic karyotyping –> Potter sequence (a sequence – renal problems —> oligohydramnios –> problems seen)
What is the management of a neonate with urinary malformation?
Treat underlying cause ie. surgery
What is the presentation of an atypical UTI in a child?
- Poor UO
- Abdominal/bladder mass - Raised creatinine
- Sepsis
- Failure to respond <48 hours
- Infection with non-E. coli organisms
What is the management of a neonate with urinary malformation with a UTI?
1st –> renal USS for…
- All children with an atypical UTI (USS during acute infection)
- Recurrent UTI; <6m (USS during acute infection)
- Recurrent UTI; >6m (USS urgent USS (<6w))
First UTI; <6m, responds to treatment (<48 hours) (USS urgent USS (<6w))
2nd –> DMSA scan for… (cannot be <2m after last UTI)
- All children with a recurrent UTI (DMSA routine (4-6m))
- Atypical UTI; <3yo (DMSA routine (4-6m))
3rd or VUR –> MCUG/VCUG scan for…
- VUR suspected on USS (Male, recurrent UTI Female, <3yo, 1st UTI)
- Obstruction, trauma (Female, pyelonephritis, recurrent UTI Female, <5yo, febrile UTI)
What is VUR?
Vesico-ureteric Reflux
- 30% of children presenting with UTIs
What is the pathophysiology of VUR?
Ureters enter bladder perpendicularly –> shorter intramural course –> VUR
What are the investigations for VUR?
- MCUG to diagnose
- DMSA to check for scarring (35% of VUR develop scarring)
What are the classifications of VUR?
- I = reflux into ureter only, no dilatation
- II = reflux into renal pelvis on micturition, no dilatation
- III = mild/moderate dilation of ureter, renal pelvis and calyces
- IV = dilatation of renal pelvis & calyces + moderate ureteral tortuosity
- V = gross dilatation of renal pelvis & calyces + ureteral tortuosity
What are the complications of urinary anomalies?
- HTN, renal osteodystrophy, UTI and calculi
- Renal causes –> prognosis bad (end-stage renal failure)
- Non-renal causes –> prognosis good (if treated)
What is a low anorectal anomaly?
anus closed over, in a different position or narrower than usual + fistula to skin
What is a high anorectal anomaly?
bowel has closed end at high level, does not connect with anus, usually associated with bladder/urethral/vaginal fistula
What are the signs and symptoms of anorectal anomalies?
- No/delayed meconium –> swollen abdomen, vomiting
- If fistula – may pass stool from abnormal area
What are the investigations of anorectal anomalies?
- Clinical
- Checked on neonatal check
What is the management of anorectal anomalies?
- Surgical correction by 9m (depending on specific anomaly) –> i.e. anorectoplasty + loop stoma
What is cryptorchidism?
Undescended testes
What is the RF for cryptorchidism?
- Prematurity
- Normal descent by 3m of age, however, it can take up to 6m to full descend
What is the management of cryptorchidism?
Unilateral (at birth) = commonly idiopathic and will resolve spontaneously
- Arrange review for 6-8
- At 6-8 weeks if still undescended, review at 3 months
- At 3 months, if undescended → refer to paediatric surgeon, to be seen before 6 months of age
Bilateral (at birth) = pituitary causes –> refer to paediatricians/endocrinologists for further tests
- Testes descent is controlled by testosterone
- If lack of testosterone, they will not descend (i.e. pituitary apoplexy)
- If suggestion of a disorder of sexual development at any point (e.g. ambiguous genitalia or hypospadias) then refer to senior paediatrician for endocrinological and genetic investigation
‘Retractile’ (i.e. testes have descended but come in and out of scrotal sac)
- Detect at 3m and advise annual follow-up throughout childhood
- Surgical = orchidopexy (palpable testes = inguinal approach; non-palpable = laparoscopy)
- Medical = ±b-hCG (analogue to LH and FSH and thus, stimulates testosterone release to stimulate descent)
What is possetting?
bringing up small amounts of milk along with swallowed air, occurs in nearly all babies
What is regurgitation?
larger, more frequent losses of food
What is vomiting?
forceful ejection of gastric contents
What are the causes of vomiting in an infant?
- GO reflux
- Feeding problems - Infection
- Dietary protein intolerance - Intestinal obstruction - Inborn errors of metabolism
- Congenital adrenal hyperplasia
- Renal failure
If chronic:
- gastro-oesophageal reflux or feeding problem (overfeeding, force feeding)
If transient:
- gastroenteritis, URTI
- Exclude meningitis or UTI
- If bile stained, exclude intestinal obstruction – intussusception, malrotation, strangulated inguinal hernia
What are the causes of vomiting in a pre-schooler?
- Gastroenteritis
- Appendicitis
- Intestinal obstruction
- Increased ICP
- Coeliac
- Renal failure
- Testicular torsion
What are the causes of vomiting in school age kids?
- Gastroenteritis
- Infection
- Peptic ulcer
- Appendicitis
- Migraines
- Increased ICP
- Coeliac disease
- Renal failure
- DKA
- Alcohol/drugs
- Cyclical vomiting syndrome - Bulimia/anorexia
- Pregnancy
- Testicular torsion
What are the causes of constipation in a baby?
- Hirschsprung’s,
- anorectal abnormality,
- hypothyroid,
- hypercalcemia,
- idiopathic
What are the causes of constipation in an older child?
- toilet training issues,
- stress,
- following acute febrile illness
What is the complication of long-standing constipation?
- If long standing, rectum becomes overdistended
- Loss of feeling the need to defecate → involuntary soiling with overflow
What is the management of constipation?
- Dis-impact with stool softeners (macrogol laxative → Movicol) with an escalating dose regime over 1-2 weeks
- If unsuccessful, consider stimulant laxative – Senna
- Then use maintenance therapy – Movicol
- Increase fluids and balanced diet with increasing fibre
- Make sure to engage with child – ICE, star reward chart
What are important questions to ask about if presenting with constipation?
- Did they poo in the first 24 hours of life?
- Majority of children who don’t will have an underlying gut problem, but by 48h 90% will - Diet and water – how much do they drink?
- Good hydration needed for meds to work and normal stool to form
What is GOR?
- GOR = due to inappropriate relaxation of LOS (functional immaturity) –> most resolve
- If persistent, can be due to GORD
What are the investigations for GOR?
- Clinical diagnosis
- 24hr LOS pH monitoring (should remain mostly above 4)
- OGD
What is the management of GOR?
Referral:
- same day if haematemesis, malaena or dysphagia
Assessment by paediatrician if:
- Red flag symptoms
- Faltering growth
- Unexplained distress
- Unresponsive to medical therapy
- Feeding aversion
- Unexplained IDA
- No improvement after 1 year of age
- Suspected Sandifer’s syndrome
Refer if there are complications:
- Recurrent aspiration pneumonia
- Unexplained apnoea
- Unexplained epileptic seizure-like events
- Unexplained upper airway inflammation
- Dental erosion with neurodisability
- Recurrent acute otitis media
What is the initial management of GOR?
Reassure (very common condition) –> may be frequent, less frequent with time, resolves by 12m
Review infant or child if:
- Projectile regurgitation - Bile-stained or haematemesis
- New concerns (e.g. faltering growth, feeding difficulties)
- Extend beyond 1 year
Initial Management (no positional management – MUST sleep on back):
- If breast-fed:
1. breastfeeding assessment
2, consider trial of alginate for 1-2 weeks
3. pharmacological
- If formula-fed:
1. review feeding history
2. trial smaller, more frequent feeds (aim for 150-180 mL/kg/day)
3. trial of thickened formula (e.g. containing rice starch –> Enfamil, Carabel)
4. trial of alginate therapy (stop periodically to see if infant has recovered)
5. pharmacological
What is the pharmacological management of GOR?
Pharmacological Management (only done in certain circumstances):
4-week PPI/H2 antagonist trial – in children unable to describe symptoms or ≥1 of:
- Unexplained feeding difficulties (refusing feeds, choking)
- Distressed behaviour
- Faltering growth
- Children complaining of persistent heartburn, retrosternal or epigastric pain
Mnemonic (order):
G - Gaviscon (a form of alginate therapy)
O - Omeprazole
R - Ranitidine
D - Dunno, so refer to get metoclopramide
What is pyloric stenosis?
- hypertrophy of the pyloric muscle causing gastric outlet obstruction
- Presents at 2-8 weeks of age, (boys > girls at 4: 1)
- Aetiology = hypertrophy of circular muscles of the pylorus (Associated with Turner’s syndrome)
Signs and symptoms of pyloric stenosis?
- Projectile Vomiting (increases in frequency and forcefulness over time, ultimately becoming projectile)
- Occurs ~30 minutes after a feed
- NON-BILIOUS
- Palpable ‘olive’ mass in RUQ
- Visible peristalsis in upper abdomen
- Hunger –> dehydration –> loss of interest in feeding –> weight loss + depressed fontanelle
Hypochloraemia hypokalaemic metabolic alkalosis (low [Cl-], low [H+]; low [K+] and [Na+]):
- HCO3- is elevated (metabolic alkalosis; H + HCO CO2 and H2O)
- May progress to a dehydrated lactic acidosis (opposite biochemical picture)
What are the investigations for pyloric stenosis?
- Test feed observe for gastric peristalsis
- USS confirmation – target lesion, >3mm thickness
What is the management of pyloric stenosis?
- IV slow fluid resuscitation + correct any disturbances = 1.5x maintenance rate +5% dextrose + 0.45% saline
- Laparoscopic Ramstedt pyloromyotomy
What is infant colic?
- Describes a common (40% of babies in the first few months of life) symptom complex
- manifests as random inconsolable crying and drawing up on the hands and feet
- resolves by 3-12 months
What is the management of colic?
- Soothe infant – hold with gentle motion, optimal winding technique, white noise
- If persistent → consider cow’s milk protein allergy or reflux, consider:
(1) 2-week trial of whey hydrolysate formula; followed by
(2) 2-week trial of anti-reflux treatment
Support:
- Self-help support group www.cry-sis.org.uk for families with excessive crying or sleepless children
- Get support from health visitor, family, friends and other parents
What is appendicitis?
- inflammation of the appendix
- Feacolith more common in pre-school children (see on AXR) and perforation more common
What are the signs and symptoms of appendicitis?
- Anorexia, vomiting, nausea, umbilicalRIF pain
- Fever, tenderness, etc
What are the investigations of appendicitis?
- FBC, pregnancy test (if female)
- Clinical (watchful waiting observation)
- AXR ± CTAP
What is the management of appendicitis?
G - Group and save
A - ABx, IV
M - MRSE screen
E - eating avoid (NMB)
Appendiectomy
What is intussusception?
Invagination of proximal bowel into distal component; 95% ileum through to caecum through ileocecal valve (ilio-colic)
Stretching and constriction of the mesentery –> venous obstruction –> engorgement and bleeding from the bowel mucosa, fluid loss –> bowel perforation, peritonitis and gut necrosis
What are the causes of intussusception?
- idiopathic,
- enlarged Peyer’s patches after gastroenteritis,
- lead points,
- hypertrophy (CF)
What are the associations of intussusception?
- lymphoma,
- gastroenteritis (viral illness enlarges Peyer’s patches),
- HSP,
- CF
What is the common appearance of intussusception?
- 3m - 2 years
- (rarely < 3m)
- Males 2x more than females
What are the signs and symptoms of intussusception?
- Colic (draw into a ball)
- Vomit (may be bile stained depending on the site of the intussusception)
- Late sign: red-currant jelly stool (bloody mucus)
- Abdominal distension in RUQ (± sausage-shaped mass) and shock
- Dance sign = emptiness on palpitation in RLQ
What are the investigations for intussusception?
- 1st line: Abdominal USS –> “Target Mass”
- 2nd line: Abdominal X-Ray –> paucity (less) of air in RUQ + large bowel, thickened wall (oedema), poorly defined liver edge, dilated small bowel loops
- 3rd line: barium (or gastrograffin) enema
What is the management of intussusception?
EMERGENCY + drip and suck
- 1st line = rectal air insufflation / barium/gastrograffin enema
- Process = light GA, barium trickled in <30cmH2O, assess location + treat
- Broad-spectrum antibiotics –> Clindamycin + gentamicin; OR Tazocin; OR Cefoxitin + vancomycin
- 2nd line (perforation) = surgical reduction with broad-spectrum antibiotics [if perforated]
What is the management for recurrent intussusception?
consider investigating for a lead point (Meckel’s diverticulum, polyps, appendix)
What is Meckel’s diverticulum?
An ileal remnant of the vitello-intestinal duct on anti-mesenteric border containing ectopic gastric mucosa (i.e. can form gastric ulcers that bleed) or pancreatic tissue – as the child was developing, a small pouch formed elsewhere in the body
When do babies present with Meckel’s diverticulum?
Between 1 and 2 years olf
What are the signs and symptoms fo Meckel’s diverticulum?
- PAINLESS MASSIVE PR bleeding (dark red)
- May present in addition to intussusception, volvulus or diverticulitis
- May show bilious vomiting, dehydration, intractable constipation
What are the investigations of Meckel’s diverticulum?
- Technetium scan (Meckel’s scan) indicates increased uptake by gastric mucosa in 70% of cases
- AXR or abdominal USS ± laparoscopy
What is the management of asymptomatic Meckel’s diverticulum?
Incidental imaging finding – NO treatment required)
What is the management of symptomatic Meckel’s diverticulum?
- Bleeding – excision of the diverticulum with blood transfusion (if haemodynamically unstable)
- Obstruction – excision of diverticulum and lysis of adhesions
- Perforation/peritonitis – excision or small bowel segmental resection with perioperative antibiotics
Antibiotics: Cefotaxime, clindamycin/metronidazole
What is the rule of 2 in Meckels Diverticulum?
(1 to) 2-years-old
2% population
2x more common in boys
2 feet from ileocecal valve (2 feet for adult)
2 inches long
2 different mucosae (gastric and pancreatic)
What is malrotation/volvulus?
Predisposition to volvulus if mesentery is not fixed to duodenal flexure or ileo-ceacal region (can occur during rotation of the GI tract during foetal development –> shorter base w/volvulus ± Ladd bands obstruct duodenum –> biliary vomiting)
What are the associations of malrotation/volvulus?
- exomphalos,
- congenital diaphragmagmatic hernia
What are signs and symptoms of malrotation/volvulus?
- Asymptomatic and present at any age with volvulus; OR
- Present in first few days of life with:
- Obstruction
- Obstruction + compromised blood supply
- Symptoms = abdominal pain, bilious vomiting, peritonism, etc.
- Scaphoid abdomen (i.e. concave abdomen)
What are the investigations of malrotation/volvulus?
- Upper GI contrast study (URGENT) to assess patency if bilious vomiting
- USS
What is the management of malrotation/volvulus?
- Urgent laparotomy (Ladd’s procedure if signs of vascular compromise)
- Untwist volvulus, mobilise duodenum, place bowel in non-rotated position and remove necrotic bowel
What is irritable bowel syndrome?
- Altered GI mobility and abnormal sensation ± psychosocial stress and anxiety effect
- Often a FHx component; Coeliac’s must be excluded; symptoms may be precipitated by GI infection
What is the signs and symptoms of irritable bowel syndrome?
- Abdominal pain – often worse before or relieved by defecation
- Explosive loose or mucus stools
- Boating
- Feeling of incomplete defecation – tenesmus
- Constipation
What are the causes of gastroenteritis?
- Rotavirus infection = MOST COMMON CAUSE (60%)
- Campylobacter jejuni = Severe abdominal pain, bloody stool
- Shigella / Salmonella = Blood/pus in stool, pain, tenesmus, fever
- Cholera / E. coli = Dehydrating diarrhoea
- CHESS organisms = bloody diarrhoea (Campylobacter, Haemorrhagic E.coli, Entamoeba histolytica, shigella, salmonella)
What are the signs and symptoms of gastroenteritis?
- Sudden change to loose-stools and accompanied by vomiting (potential travel history)
- Complications → dehydration → shock (increased risk if…: <6m, >2 vomits in <24 hours, cannot tolerate extra fluids or malnourishes, >5 diarrhoeal stools in <24 hours)
What are the investigations for gastroenteritis?
- AXR and exclude other causes
- Stool sample analysis –> young/viral cause = stool electron microscopy; older/bacterial cause = stool culture
What is the management of gastroenteritis?
Give rehydration advice:
Maintenance fluid volumes:
• 0-10 kg = 100ml/kg
• 10-20kg = 1000ml + 50ml/kg for each kg over 10kg
• 20+ kg = 1500ml + 20ml/kg for each kg over 20kg
Modes of rehydration:
• <5yo = 50 ml/kg IV fluids over 4 hours as well as maintenance with oral rehydration solution
• 5+ years = 200 mL after each loose stool
Do not drink sugary or carbonated drinks (sugar in the gut can draw excess water into the gut)
Do not give anti-diarrhoeals to <5yo
What gastroenteritis organisms need to be notified to the Health protection unit:
- Campylobacter
- Listeria
- E. Coli )157
- Shigella
- Salmonella
What is the safety net for gastroenteritis?
- Diarrhoea: usually 5-7d, most stop within 2 weeks
- Vomiting: usually 1-2d, most stop within 3 days
How do you assess dehydration in a child?
o Weight loss is the most accurate marker
- No clinically detectable dehydration (<5% loss of body weight)
- Clinical dehydration (5-10%)
- Shock (>10%)
o Can use clinical signs to estimate degree of dehydration
What are the signs of hypernatraemia?
Full OF SALT
Flushing Oedema Fever Seizures Agitation / jittery movements Low urine output Thirst
What are the signs of hyponatraemia?
SALT LOSS
Stupor Anorexia (+ N&V) Limp tone Tendon reflexes reduced Lethargy Orthostatic hypotension Seizures Stomach cramps
What are the investigations for dehydration?
Clinical Examination (likely viral cause):
- U&E and FBC
- Stool M&C (only if BLOODY diarrhoea – CHESS organisms)
What is the management of dehydration?
Over 24 hours… = maintenance + dehydration:
- Oral rehydration solution –> clinical dehydration
(Oral rehydration solution contains glucose –> absorption in gut –> water follows glucose absorption) - IV fluids –> shock / deterioration / persistent vomiting / sick child
What is the management of shock?
Bolus fluids (these don’t need to be subtracted from the dehydration corrections):
- 20mL/kg 0.9% NaCl over 15 minutes (most situations, new DKA guidelines)
- 10mL/kg 0.9% NaCl over 60 minutes (trauma, fluid overload, heart failure, old DKA guidelines)
How do you calculate dehydration corrections?
Over 24 hours:
Add to maintenance fluids:
1st - weight child (or estimate weight)
2nd - calculate weight lost from fluids
How do you calculate normal maintenance fluids for dehydration?
- 5% dextrose (do not use in boluses; do not use in immediate maintenance in DKA)
- 0.9% sodium chloride (as per below)
“4:2:1” approach
- 4 x = 10kg +
- 2 x = 10kg +
- 1 x = 10kg = TOTAL ml/hour
- E.G. 70kg (10, 10, 50) = “4 x 10” + “2 x 10” + “1 x 50” = 110mL/hour (2,640mL/day
so 2,500mL/day as max for boys and 2,000mL/day for girls)
What is neonatal fluid restriction?
- Day 0: 60 ml/kg/day
- Day 1: 90 ml/kg/day
- Day 2: 120 ml/kg/day
- For term neonates use isotonic crystalloids with 10% dextrose
I.E. 2.5kg neonate at day 2 fed 3 times a day
I.E. 2.5*120 = 300 over 24 hours –> 300/8 = 37.5mL per 8-hourly feed
How to treat hypernatraemic dehydration?
- Oral rehydration solution
- If IV fluids required, take care with cerebral oedema (rapid reduction in plasma sodium concentration and osmolality will lead to a shift of water into the cerebral cells and may result in seizures and cerebral oedema)
- Fluid deficit replaced over at least 48 hours and the plasma sodium should be measured regularly
Why are antidiarrheal drugs and antiemetics not used in children?
o Ineffective o May prolong the excretion of bacteria in the stools
o Can be associated with side-effects
o Add unnecessarily to cost
o Focus attention away from oral rehydration
Are antibiotics use in gastroenteritis treatment?
o Not routinely required to treat gastroenteritis (even if the cause is bacterial)
o Only indicated for:
- Suspected or confirmed SEPSIS
- Extra-intestinal spread of bacterial infection
- Salmonella gastroenteritis if < 6 months
- Malnourished or immunocompromised children
- Specific bacterial or protozoal infections
• C. difficile associated with pseudomembranous colitis
• Cholera, shigellosis, giardiasis
What is post gastroenteritis syndrome?
o After gastroenteritis –> introduction of a normal diet results in a return of the watery diarrhoea
o Treatment: oral rehydration therapy
What is chrons disease?
- Affects any part of the GI tract mouth to anus
* Transmural and most commonly affects the distal ileum and proximal colon
What are the signs and symptoms of chrons?
o Abdominal pain, diarrhoea, weight loss
o May see growth failure, delayed puberty, fever, lethargy, aphthous ulcers, perianal skin tags
o Uveitis, arthralgia, erythema nodosum
o Complications → inflamed thickened bowel is susceptible to strictures and fistulae
What are the investigations for chrons?
- Biopsy = non-caseating epithelioid cell granulomata
- FBC (including iron, B12 and folate)
- CRP and ESR
- Faecal calprotectin
- Upper GI and small bowel contrast scan
- Colonoscopy and biopsy (cobblestones)
- Assess impact on daily functioning (anxiety, depression)
- Stopping smoking (reduce risk of relapse)
- Assess risk of osteoporosis
What is the management of Chrons?
1st) Induce remission:
- Nutritional management –> effective in 85-100% patients (crohns.org)
• Replace diet with whole protein modular diet – excessively liquid, for 6-8 weeks
• May need NG if the child struggles to drink that much
• Products are easily digested, provide all nutrients needed to replace lost weight
- Pharmacological management –> steroids (prednisolone) may be used to induce remission
2nd) Maintain remission – you can use steroids, but these have long-term consequences…
- Aminosalicylates (e.g. mesalazine)
- Immunosuppressive drugs (azathioprine, methotrexate, mercaptopurine)
• Azathioprine cannot be given to people with a TPMT mutation
• Must not have live vaccines
• Must have pneumococcal and influenza vaccines
- Anti-TNF antibodies in biologic therapies (e.g. infliximab)
- Medical therapies require monitoring of biochemical measures (e.g. ferritin, B12, calcium and vitamin D)
o Surgery for complications – obstruction, fistula, abscess, severe localized disease unresponsive to treatment
o SUPPORT → www.chronsandcolitis.org.uk – has information leaflet and grants available (Educate on features of flare-ups)
What are the signs and symptoms of UC?
Partial thickness, distal to proximal, crypt damage, ulceration
o Classic presentation is rectal bleeding, diarrhoea, abdominal pain
o Weight loss and growth failure
o Erythema nodosum, arthritis
What are the associations and complications of UC?
- PSC
- Toxic megacolon
- Perforation
- Enteric arthritis
- Haemorrhage
- Bowel cancer
What are the investigations of UC?
(Faecal calprotectin screens for IBD in general)
o Endoscopy and histological features:
- Confluent colitis extending from rectum proximally
- Histology = mucosal inflammation/ulceration, crypt damage (abscesses, loss, architectural distortion)
- Small bowel imaging to check extra-colonic inflammation (Crohn’s) is not present
o In children, 90% have pancolitis
o Severity graded using: - Paediatric Ulcerative Colitis Activity Index (PUCAI) (N.B. be aware of coexistent depression) • Severe = >65 points • Mild-Moderate = 10-64 points - Truelove and Witts score
What is the management of UC?
1st line: topical –> oral aminosalicylates – if no improvement 4 weeks after starting, move to oral, then 2nd line
- Often used to maintain remission
- Can use oral azathioprine or mercaptopurine if aminosalicylates insufficient
2nd line: topical –> oral corticosteroid (i.e. if aminosalicylates not tolerated/contraindicated)
- Prednisolone
- Beclomethasone
3rd line: oral tacrolimus
4th line: biological agents (infliximab, adalimumab and golimumab)
5th line (resistant disease) –> surgery (colectomy with ileostomy or ileojejunal pouch)
What medical education/support do you give a parent with a child with UC?
- UC is associated with an increased risk of bowel cancer
- Crohn’s and Colitis UK
- Regular screening performed after 10 years of diagnosis
What is severe fulminating disease?
EMERGENCY: Severe ulcerative colitis is defined by more than eight bloody stools daily and evidence of toxicity, demonstrated by fever, tachycardia, anemia, or an elevated erythrocyte sedimentation rate.
- MDT approach (medics and surgeons)
- IV corticosteroids or ciclosporin and assess likelihood of needing surgery
–> Increased likelihood of needing surgery if:
• Stool frequency > 8 per day
• Pyrexia
• Tachycardia
• AXR showing colonic dilatation
• Low alb, low hb, high platelets or CRP - Consider IV ciclosporin (if IV corticosteroids are contraindicated or ineffective)
What is toddlers diarrhoea/diarrhoea chronic non-specific diarrhoea?
Toddler diarrhoea = chronic and non-specific diarrhoea
- Commonest cause of loose stools in preschool kids
- Underlying maturational delay in intestinal mobility –> increased intestinal hurry (not malabsorption)
What are the signs and symptoms of toddlers diarrhoea/diarrhoea chronic non-specific diarrhoea?
- Varying consistency stools (well-formed to explosive and loose ± presence of undigested vegetables in stool)
- Child is well and thriving (no precipitating dietary factors and normal examination)
What is the management of toddlers diarrhoea/diarrhoea chronic non-specific diarrhoea?
- Increased fibre and fat in diet (whole milk, yoghurts, cheeses) –> relieve symptoms
- Avoid fruit juice and squash
What is the first-line management of constipation?
1) Advise behavioural interventions (scheduled toileting, bowel habit diary, reward system)
• Sit on the toilet after mealtimes to utilise the physiological gastrocolic reflex
• Behavioural interventions (e.g. star chart) may be useful to aid motivation and keep a record
- Advise diet and lifestyle advice (adequate fluid intake)
2) Medications –> disimpaction or mild constipation:
• Step 1: Movicol Paediatric Plain (polyethylene glycol + electrolyte) escalating dose for 2 weeks
o Disimpaction inadequate response –> add a stimulant laxative
o Mild constipation –> maybe add a stimulant laxative
• Step 2: Maintain for 6 months
What are the different types of laxatives?
1st line: Osmotic = Polyethylene Glycol 3350 (Movicol Paediatric Plain), lactulose
2nd line: Stimulant: Bisacodyl, Senna, sodium picosulphate
Bulk-forming: fybogel, methylcellulose
Stool-softener: arachis oil, docusate sodium
( Emphasise that laxative use is safe, even in the long-term, Underuse is the most common cause of treatment failure)
What is Hirschprungs disease?
An absence of ganglion cells from the myenteric (Auerbach) and submucosal (Meissner’s) plexuses; begins at the rectum and spreads proximally for a variable distance (75% rectosigmoid), ending at normally innervated, dilated colon
Complications: meconium plug syndrome, Hirschprung’s enterocolitis (perforated colon)
Risk factor = Down’s, MEN2a, del(chr10), male
What are the signs and symptoms of Hirschprungs disease?
- Failure to pass meconium <24hrs –> abdominal distension, bile-stained vomiting
- Explosive passage of liquid/foul stools
- May present later in first few weeks of life with severe, life-threatening Hirschsprung enterocolitis (C. diff)
What are the investigations for Hirschprungs disease?
Initial –> AXR (if obstruction), contrast (barium) enema (dilated distal segment + narrowed proximal segment)
Definitive –> suction-assisted full-thickness rectal biopsy –> absence of ganglion cells, ACh +ve nerve trunks
What is the management of Hirschprungs disease?
- 1st line (initial management) = bowel irrigation
- 1st line (after) = Endorectal pull-through – colostomy followed by anastomosing normally innervated bowel
- Total colonic agangliosis would require initial ileostomy with later corrective surgery
Other procedures = recto-sigmoidectomy, retro-rectal trans-anal pull-through, and ano-rectal myomectomy
–> I.E. Swenson, Duhamel, Soave procedures
What is an anal fissure?
Tears in skin around the anus, usually as a side effect of constipation → sphincter stretches to allow hard dry stool out
What are the signs and symptoms of anal fissure?
o Painful passing of stool
o Bright red blood on tissue (can examine for fissures)
What is the management of anal fissure?
- Conservative –> ensure stools are soft and easy to pass:
- Increase dietary fibre (include foods containing whole grains, fruits and vegetables)
- Increase fluid intake
- Manage pain – simple analgesia; sit in shallow, warm bath
• Topical anaesthetics can be used (i.e. lidocaine) or GTN ointment - Anal hygiene
- Advise against stool withholding
Consider constipation treatment pathway
SAFETY NET: seek further help if not healed within 2 weeks
What are the signs and symptoms of a threadworm?
- extreme itching around the anus or vagina, particularly at night
- irritability and waking up during the night
- worms seen in poo and backend of anus
What is the management of a threadworm?
Single dose of an anti-helminth (e.g. mebendazole / “Ovex”) for the whole household
- The dose may be repeated in 2 weeks if the infection persists
- Advise rigorous hygiene for 2 weeks if on mebendazole or 6 weeks if using hygiene measures alone:
• Hand washing
• Cut fingernails regularly, avoid biting nails and scratching around anus
• Shower each morning, including the perineal area, to remove eggs from skin
• Change bed linin and nightwear daily for several days after treatment (don’t shake bedsheets)
• Thoroughly dust and vacuum
Exclusion from school/nursery is NOT required
Children <6 months should be treated with hygiene measures alone for 6 weeks (seek advice from ID specialist)
Consider treating all household contacts (threadworm is highly transmissible)
What is mesenteric adenitis?
Mainly in children <15yo; recent viral/bacterial infection –> common cause of abdominal pain
What are the signs and symptoms of mesenteric adenitis?
- Abdominal pain – central or RIF
- Nausea ± diarrhoea, ↓ appetite
- INFECTIOUS picture: high temperature, lymphadenopathy, ↑WCC often preceded by UTI
What are the investigations for mesenteric adenitis?
- Large mesenteric lymph nodes seen at laparoscopy (w/ normal appendix) –> definitive
- Diagnosis of exclusion (as laparoscopy is a bit much…) –> exclude appendicitis (bloods, urine MC&S)
What is the management of mesenteric adenitis?
- Simple analgesia (symptoms usually resolve in a few days, maximum 2 weeks)
- Antibiotics (maybe, but not routine)
- Safety net for increased pain, deterioration, etc.
What is lactose intolerance and the RFs?
Lactase deficiency (lactose → glucose and galactose) –> lactose ferments in gut –> ↑ waste gas –> pain and bloating
o RFs: FHx, ethnicity
o Affects up to 75% of world’s population (less Caucasian, more Asian, African and Hispanic)
What is primary and secondary lactose intolerance?
Primary (70%) / AR → deficient lactase (Asian, African, Hispanics)
Secondary (30%) → damage to gut, temporary lactase deficiency (gastroenteritis, Crohn’s, coeliac, alcoholism)
- I.E. previous bout of gastroenteritis and full resolution with persistent diarrhoea from temporary damage
Exclude: gastroenteritis (stool sample), Crohn’s (faecal calprotectin, colonoscopy) Coeliac’s (anti-tTG/EMA)
What are the signs and symptoms of lactose tolerance?
- wind,
- diarrhoea,
- bloating with lactose ingestion,
- abdominal rumblings
- pain
What are the investigations for lactose intolerance?
- Clinical diagnosis (trial lactose-free diet for 2 weeks and see how symptoms are)
- Breath hydrogen test:
Normal = unabsorbed CHO fermented by large intestine GIT bacteria to produce H2 which is absorbed by the blood and exhaled from the lungs a period of time after initial ingestion
Pathology = GIT bacteria extend to small intestine from large intestine (due to overgrowth) and CHO metabolism occurs earlier in digestion leading to an earlier rise in exhaled H2 following CHO ingestion - Lactose intolerance test (outdated):
Lactose ingested after fasting and a lack of a rise in blood sugar is noted - FBC (rule out secondary disease –> anaemia, ↑WCC)
What is the management of lactose intolerance?
- Dietician referral
- Avoid milk and dairy products –> provide calcium and vitamin-D supplementation
For primary LD:
- Experiment with diet – different with each child, need to discover individual lactose threshold
- Potential foods:
• High-fat dairy (lower lactose)
• Hard cheeses
• Milk substitutes (almond, soya, coconut)
For secondary LD:
- Cut out dairy and allow gut time to heal
- May need Ca2+ and Vitamin D supplements
- Digestive enzymes can be taken in a capsule before eating lactose until gut heals/matures
What is coeliacs disease?
Autoimmunity to gliadin (in gluten, wheat, barley and rye) –> shorter villi and flat mucosa
Damage to proximal small intestinal mucosa –> rate of migration of absorptive cells moving up the villi (enterocytes) from the crypts is massively increased but insufficient to compensate for increased cell loss from the villous tips
o Common; 1% of infants
o HLA DQ2 (95%) and DQ8 (80%) association
What are the signs and symptoms of coeliacs disease?
Malabsorption syndrome (failure to thrive, abdominal distension, bloating, irritability)
- Presents 8-24m after introduction of wheat-foods
- May present later with non-specific GI symptoms
Malnutrition (check weight, height, BMI) –> wasted buttocks and distended abdomen
Pathogenomic = dermatitis herpetiformis (pruritic papulovesicular elbow/knee rash)
What are the investigations for coeliacs disease?
Serological diagnosis:
- Most sensitive = IgA tissue transglutaminase (anti-tTG)
- Less sensitive = IgA anti-endomysial cell antibodies (anti-EMA)
- If IgA deficient –> IgG DGP / Deiminated Gliadin Peptide
FBC and blood smear (iron deficient, vitamin B12/folate deficient, vitamin D deficient)
Confirmation of diagnosis (n.b. grading with the ‘Marsh’ system):
- Older children / adults –> OGD + jejunal biopsy (villous atrophy, crypt hyperplasia, ↑ IELs)
- Very young children –> no histopathological confirmation / biopsy –> EMA and HLA DQ2/DQ8 testing
What is the management of coeliacs disease?
- Remove all products containing wheat, rye and barley FOR LIFE
- MDT – dietician, child psychologist, school involvement, GP, paediatric gastroenterologist
- Dietician referral (if problems with adhering to the diet) and annual (6-12m) review:
Regular checks of height, weight and BMI – check this at home
Review symptoms
Review adherence to diet
Consider blood tests (coeliac serology, FBC, TFT, LFT, vitamin D, B12, folate, calcium, U&E) - Support sources: Coeliac UK
- Explain the importance of keeping to a strict gluten-free diet
Non-adherence to diet –> micronutrient deficiency (vitamin D, iron), osteoporosis, EATL, hyposplenism
What are the types of hernias?
- indirect inguinal,
- umbilical,
- epigastric,
- femoral
What is the pathophysiology of an indirect inguinal hernia?
- During development, the testicles develop inside the abdomen and towards the end of the pregnancy, each testicle creates a passage (process vagialis) as it travels into the scrotum
- Failure of this passage to close → abdominal lining and bowel protrude through defect
- If bowel remains trapped → could become damaged due to increased pressure on the blood supply to the area bowel death serious infection and bowel disorders
What are the risk factors for indirect inguinal hernias?
- male,
- prematurity,
- connective tissue disorders
What are the differentials for indirect inguinal hernias?
- hydrocele (fluid, this transluminates so use a torch to differentiate)
What are the signs and symptoms of an indirect inguinal hernia?
- Scrotal sac enlarged, contains palpable loops of bowel, fluid (does not always transluminate) ± pain
- Swelling or bulge may be intermittent, and can appear on crying or straining
What are the investigations for indirect inguinal hernia?
- Clinical diagnosis
- Determine type of hernia –> examine supine and standing, try to reduce it
• If incarcerated → tender, firm mass + vomiting, obstruction (unable to pass stool), poor feeding, erythematous/discoloured skin overlying
• More commonly on right (60%) due to delayed descent of right testicle
What is the management of indirect inguinal hernia?
Urgent Surgical correction (lap or open) = Elective herniorrhaphy (risk of strangulation/incarceration)
• <6w old - correct within 2 days
• <6m old - correct within 2 weeks
• <6yo - correct within 2 months
What is an umbilical hernia risk factors?
- Afro-Caribbean,
- Down’s,
- Mucopolysaccharide diseases
What is an umbillical hernia?
Common in new-borns and often resolve by 12m (watch and wait are appropriate)
What is the management of umbillical hernias?
- <1yo –> watch and wait
- >1yo –> large or symptomatic = surgical repair 2-3yo; small or asymptomatic = surgical repair 4-5yo
What is an umbillical granuloma?
wet, moist and leaks fluid –> treat with salt initially and can be later cauterised with silver nitrate
What is a femoral hernia?
- Difficult to differentiate from indirect
- Located below inguinal canal (through femoral canal)
- Differentiation often made during operation
- S/S same as for indirect inguinal hernia
What is gastroschisis?
- paraumbilical abdominal wall defect –> abdominal contents outside body, without peritoneal covering
What is the management of gastroschisis?
Manage with immediate surgery (cover with cling-film) “Gastro-ski-sis”
What is an omphalocele/exomphalos?
- bowel protruding out the body with a peritoneal covering / umbilical attached
What is the management of omphalocele/exomphalos?
- Manage with staged closure starting immediately, finishing at 6-12 months
- Chromosomal abnormalities in 15% of cases (Trisomy 13 (Patau’s), 18 (Edward’s), 21 (Down’s); Turner’s
What is encopresis?
- soiling of underwear with stool in children who are past the age of toilet training (>4yo)
- Usually due to constipation with overflow
What is the management of encopresis?
- enquire about psych stressors, changes in medications, food intolerances, etc.
What is acute liver failure?
- Massive hepatic necrosis with loss of liver function ± hepatic encephalopathy
- Majority from paracetamol overdose, infection and metabolic disease
What are the signs and symptoms of acute liver failure?
- Jaundice
- Encephalopathy (alternative irritable –> confusion/drowsiness episodes)
- Coagulopathy
- Hypoglycaemia
- Electrolyte disturbance
- Older children (aggressive, unusually difficult)
What are the investigations for acute liver failure?
- LFTs – early BR normal (esp. in metabolic disease) AST/ALT (very high) ALP (high)
- Liver FUNCTION = INR (using PT)
- Liver INFLAMMATION = AST and ALT
- Clotting – abnormal
- Plasma ammonia raised
- EEG and CT – acute hepatic encephalopathy and cerebral oedema
What is the management of acute liver failure?
Referral to a national paediatric liver centre
Steps to stabilise the child:
- Maintaining blood glucose (> 4 mmol/L) with IV dextrose
- Preventing sepsis with broad-spectrum antibiotics and antifungals
- Preventing haemorrhage with IV vitamin K and H2 antagonists/PPIs
- Prevent cerebral oedema by fluid restriction and mannitol diuresis
- Management is dependent on the suspected cause of acute liver failure
What are the features of poor prognosis in acute liver failure?
- Shrinking liver - Rising bilirubin
- Coma
- Falling transaminases
- Worsening coagulopathy
What are the complications of acute liver failure?
- Hepatic encephalopathy –> supportive, reduce N2 load (lactulose, ABx)
- Cirrhosis, portal HTN –> fluid restrict, diuretics
What antibodies does PBC have?
anti-mitochondrial AB
What antibodies does PSC have?
pANCA, anti-smooth muscle AB
What is the management of autoimmune hepatitis?
- Prednisolone and azathioprine
- Sclerosing cholangitis –> ursodeoxycholic acid (aids bile flow)
- Liver transplants may be considered in severe cases
What is the management of Wilson disease?
- Zinc (blocks intestinal copper resorption)
- Trientine / Penicillamine (increases urinary copper excretion)
- Pyridoxine (vitamin B6; given to prevent peripheral neuropathy – improvement may take up to 12m)
- Symptomatic treatment for tremor, dystonia and speech impediment
- Liver transplantation - considered in children with end-stage liver disease
What is the management of non-alcoholic fatty liver disease?
- Weight loss (and bariatric surgery)
- Treatment of insulin resistance and diabetes
- Statins
- Vitamin E and C
- Ursodeoxycholic acid (improved bile flow)
What is the management of paracetamol overdose?
<1 hour –> activated charcoal –> Ix: paracetamol level ≥4 hours after ingestion –> NAC if indicated
> 1 hour –> Ix: paracetamol level ≥4 hours after ingestion –> NAC if indicated
(NAC = N-acetylcysteine)
What is the management of toxoplasmosis in a child?
- 1st line: Pyrimethamine + Sulfadiazine for 1 year
- Adjunct: Prednisolone
What is the management of syphilis in a child?
- IM benzathine penicillin
What is the management of Pavrovirus in a child?
- Intrauterine –> blood transfusion if foetal hydrops
- Infant –> self-limiting
What is the management of VZV in a child?
- IV aciclovir
- Neonatal ophthalmic examination
- Monitored until 28 days after maternal infection
What is the management of HIV in a child?
- Cord clamped as soon as possible and baby bathed immediately after birth
- Zidovudine monotherapy for 2-4w (low/medium risk) OR 4w PEP combination (high risk)
- Women not to breastfeed
- Give all immunisations including BCG (unless a moderate-high risk of transmission)
- PCR HIV virions at 6 and 12 weeks (at least 2 and 8 weeks after stopping prophylaxis)
• Baby will have passive IgG from the mother up until at least 6 months
What is the management of Rubella in a child?
- Refer to foetal medicine unit and notify HPU
- No effective treatment (rest, adequate fluids, simple analgesia)
- Infant –> cardiac scans, hearing tests
What is the management of CMV in a child?
IV ganciclovir / oral valganciclovir
What is the management of HSV in a child?
Aciclovir (400mg, TDS) –> if neonate exposed on delivery
What is the management of HepB in a child?
Acute HBV infection –> not dangerous
Chronic HBV with cirrhosis –> IUGR and prematurity
- HBV vaccination (for infants of mothers who are HBsAg positive)
- Mother: Tenofovir disoproxil OR lamivudine (mothers should receive antiviral monotherapy)
- No risk of transference through breastfeeding
- Baby: passive immunisation in HBV IG and HBV vaccine [within 12 hours of birth]
What is the management of GroupB Strep in a child?
GOSH child ABx:
- Early onset <72 hours –> GBS and L. monocytogenes –> IV cefotaxime + amikacin + ampicillin
- Late onset >72 hours –> CoNS (S. epidermidis) –> IV meropenem + amikacin + ampicillin
- Mother ABx (during labour):
- -> IV benzylpenicillin
What does listeria monocytogenes cause in a neonate?
An important cause of neonatal sepsis; mother has a mild influenza-like illness and passes to child in placenta
- Can cause spontaneous abortion, PTL, neonatal sepsis
- Characteristics: meconium staining of liquor in pre-term infant, widespread rash, sepsis, pneumonia, meningitis
- Mortality 30%
What is the management of listeria monocytogenes in a child?
- IV amoxicillin/ampicillin OR co-trimoxazole (trimethoprim contraindicated in pregnancy)
- If systemic infection: IV benzylpenicillin + gentamicin
What is kawasaki disease?
Systemic vasculitis; children 6m to 4yo (peak 1yo); Japanese, Black-Caribbean ethnicity
What are the signs and symptoms of kawasaki disease?
FEVER +/- 4/5 other features:
C - Conjunctivitis
R - Rash (polymorphous; begins hands/feet)
A - Adenopathy (cervical lymphadenopathy)
S - Strawberry tongue
H - Hands & feet swollen (and desquamate/peel)
Burn - Fever >5 days (not responsive to antipyretics)
What are the investigations for Kawasaki disease?
- Diagnosis on clinical findings (no test)
- FBC (inc. platelets), CRP, ESR
- Echocardiography
What is the management of kawasaki disease?
ADMISSION
- IVIG (within 10 days) + high-dose aspirin (reduce thrombosis risk; treatment (high) –> prophylaxis (low) dose)
- Other: corticosteroids, infliximab/ciclosporin and plasmapheresis
- I.E. for persistent inflammation and fever
What are the complications of kawasaki disease?
Children with coronary aneurysms may require long-term warfarin and close follow-up
What organism is responsible for malaria?
Protozoa Plasmodium, spread by female Anopheles mosquito
- Falciparum most fatal (ovale, malariae and vivax also exist)
What are the signs and symptoms of malaria?
- Onset 7-10 days after inoculation (<1yr)
- Fever (cyclical / continuous with spikes)
- D&V
- Flu-like symptoms (shaking, chills, night sweats, headache, myalgia)
- Jaundice, anaemia - Thrombocytopaenia
- Particularly susceptible to cerebral malaria, severe anaemia
What are the investigations for malaria?
- 3 thick and thin blood films (thick = parasite; thin = species, parasitaemia)
- Malaria rapid antigen detection tests (plasmodial HRP-II, parasite LDH)
What is the management for malaria?
Prevention:
- Anti-malarial prophylaxis with quinine
- Bite prevention – repellent and nets
Arrange immediate admission –> Medical emergency; notify PHE (can have a RAPID deterioration)
Treatment (very variable, dependant on strain, severity, tolerability, resistance):
1) Non-falciparum:
- 1st line = Chloroquinine
2) Mild falciparum (Mild = if not vomiting, parasitaemia <2% and ambulant):
- 1st line = ACT (Artemisinin Combination Therapy)
- 2nd line = Atovaquone-proguanil (cannot give doxycycline to age <12yo)
3) Severe/complicated falciparum:
- 1st line = IV Artesunate (N.B. anti-malarial drugs may precipitate G6PDD)
- 2nd line = IV Quinine
Primaquine (not G6PDD) for eradication of hypnozoites (dormant parasites in liver in vivax and ovale)
What organism cause typhoid fever?
Salmonella typhi or paratyphoid
What is the transmission of typhoid fever?
Faeco-oral transmission
What are the complications of typhoid fever?
GI perforation, myocarditis, hepatitis, nephritis
What are the signs and symptoms of typhoid fever?
- Fever (+ bradycardia)
- Headache
- Cough (dry)
- Anorexia (WL +++)
- Malaise, myalgia
- GI symptoms (by 2nd week; diarrhoea or constipation)
- Splenomegaly, bradycardia, rose-spots on trunk
What is the buzzword for typhoid fever?
TRAVEL: Pakistan, India, Bangladesh
What are the investigations for typhoid fever?
- Blood culture [diagnostic]
- Other – FBC, LFTs, stool culture
What is the management of typhoid fever?
- 1st line = IV ceftriaxone OR IV cefotaxime
- 2nd line = PO azithromycin
What organism causes dengue?
Caused by dengue arbovirus transmitted by Aedes Aegyptii mosquito
- Flavivirus
- Short incubation period (~5 days)
- Usually imported from SE Asia & South Africa
What are the signs and symptoms of dengue fever?
Low WCC, low plts, low Hb:
o Primary infection:
- Headache (retro-orbital)
- Fine erythematous sunburn-like rash (50%)
- High fever and myalgia
o Other = hepatomegaly, abdominal distension
o Severe = low WCC, low platelets, haemorrhage
What is the investigations for dengue?
- Gold standard – PCR viral antigen, serology IgM
- FBC, LFTs, serum albumin
What is the management of dengue?
- Supportive (fluids and monitoring)
- ITU (if increased deterioration)
What is dengue hemorrhagic fever?
A secondary infection:
- Previously infected child –> subsequent infection (different strain) –> severe capillary leak, hypotension, haemorrhagic manifestations –> fluid resuscitation usually helps a lot
- Due to partially effective host immune response augmenting the severity of the infection
What is mumps?
Mumps paramyxovirus
- Transmission by respiratory secretions
- Long incubation period (15-24 days)
- Infectious 5 days before and 5 days after the parotid swelling (should pass totally in 1-2 weeks)
- Can still get infected if they have had the vaccine but likely to be reduced clinical symptoms
What are the signs and symptoms of mumps?
- Asymptomatic (in 30% of cases)
- Headache, fever, parotid swelling
- Other – pancreatitis, neuritis, arthritis, mastitis, nephritis, thyroiditis, pericarditis
What are the investigations for mumps?
- Oral fluid IgM sample
- Amylase is raised in the blood
What is the management of mumps?
- Notify HPU, isolate for 5 days from time of parotid swelling
- Advise and educate –> supportive care (rest, analgesia and fluids) as this is a ‘viral’ infection
What is the safety net complications for mumps?
- Mumps orchitis –> infertility (very rare)
- Viral meningitis –> encephalitis (very rare)
- Deafness (unilateral and transient)
What is measles?
Paramyxovirus, spread through respiratory secretions
- One of the most highly communicable diseases (>15 mins in direct contact is enough to transmit)
- Incubation = 7-18-days
- Infective period = 4 days before and 4 days after rash
What are the signs and symptoms of measles?
- Prodrome: high fever, irritability, conjunctivitis/coryza
( can cause Febrile convulsions) - Maculopapular rash (face/neck –> hands/feet)
- Koplik spots (small white spots surrounded by red ring in mouth)
- Cough
- No lymphadenopathy
What are the investigations for measles?
- 1st line = Measles serology (IgM and IgG) from Oral Fluid Test – OFT
- 2nd line = PCR of blood or saliva
What is the management of measles?
- Notify HPU, isolate for 4 days after development of rash
- Rest and supportive treatment (fluids, antipyretics, rest)
- -> Children isolated in hospital
- Immunise close contacts and encourage vaccination after acute episode
What is the safety net complications for measles?
- Encephalitis (1 in 5,000) – after 1-2w: • Headaches, lethargy • Irritability seizures • Coma = 15% death - SSPE (1 in 100,000) after 7 years • Sub-acute Sclerosing Panencephalitis • Measles dormant in the CNS • S/S: dementia and death - Otitis media (most common complication) - Pneumonia (most common cause of death) - Keratoconjunctivitis
What is rubella?
German measles’ caused by a Togavirus, spread through sneezing/coughing (SIMILAR TO MEASLES)
- Incubation period = 6-21 days
- Infective period = 1 week before to 5 days after rash onset
- Illness = for 7-10 days
What are the signs and symptoms of rubella?
- Prodrome = mild fever / asymptomatic
- Pink maculopapular rash (face –> whole body), fades in 3-5 days
(20% –> Forchheimer spots red spots on soft palate) - Lymphadenopathy (suboccipital, postauricular)
- No Koplik spots or conjunctivitis
What are the investigations for rubella?
- Rubella serology (IgG and IgM) from oral fluid test
- RT-PCR (2nd line)
What is the management of rubella?
- Notify HPU, isolate for 4 days after development of rash
- Supportive (virus; fluids, analgesia, rest)
What is the safety net complications for rubella?
Haemorrhagic complications due to thrombocytopenia
What is erythema infectiosum?
- “Fifth disease / erythema infectiosum / B19 / Slapped Cheek”
- Transmission via respiratory secretions,
- Infects RBC precursors in BM
- Infectious period = 10 days before to 1 day after rash develops
What are the signs and symptoms of erythema infectiosum?
- 1st: Asymptomatic OR coryzal illness for 2-3 days –> latent for 7-10 days
- 2nd: Erythema infectiosum (most common):
(1) Red ‘slapped cheek’ rash on face (viraemic phase of fever, malaise, headache, myalgia)
(2) Progresses (1 week later) to maculopapular (lace) like rash in trunk and limbs - Aplastic crisis – occurs in children with chronic haemolytic anaemia (sickle cell) or immunodeficient
- Fetal disease – maternal transmission – leads to fetal hydrops, death due to severe anaemia
What is the investigations for erythema infectiosum?
- B19 serology (IgG and IgM) –> n.b. similar to rubella
- RT-PCR (2nd line)
What is the management of erythema infectiosum?
- Supportive (virus; fluids, analgesia, rest) –> will clear in ~3 weeks
- No need to stay off school or avoid pregnant women (as not really infectious once the rash develops)
What is the safety net complications for erythema infectiosum?
Anaemia, lethargy, complications to pregnancy
What is chickenpox?
Varicella zoster virus (HHv-3) – reactivation of dormant virus after chickenpox leads to herpes zoster (shingles)
- Incubation period = 10-21 days
- Infectious period = 48 hours before rash to last crusted over lesion / 5-7 days after rash appears
What are the signs and symptoms of chickenpox?
- Pyrexia, headache, abdominal pain, malaise
- Crops of vesicles appear over 3-5 days:
- Head, neck, trunk (less on limbs) – itchy
- Papule → vesicle → crust – several stages at once
What is the investigation for chickenpox?
Clinical diagnosis
What is the managment of chickenpox?
- Supportive (virus; fluids, analgesia (no ibuprofen), rest)
- Advice – nails short, loose clothing, infectious period = 1-2 days before rash to last crusted over lesion
Isolate from:
- Immunocompromised
- Neonates (<28d old)
- Pregnant women - Keep home from school
What are the special cases of chickenpox?
Admit if serious complications (e.g. pneumonia, encephalitis, dehydration)
- Secondary bacterial superinfection –> sudden high fever: toxic shock, necrotising fasciitis
- Encephalitis (ataxic with cerebellar signs; better prognosis than HSV-encephalitis)
- Purpura fulminans –> large necrotic loss of skin from cross-activation of antiviral ABs –> inhibit the inhibitory coagulation proteins factors C and S –> increased clotting and purpuric skin rash
- Dehydration (severe)
Immunocompetent adolescents/adults –> oral aciclovir 800 mg 5/day for 7 days (if <24hrs of rash)
Immunocompromised children –> IV aciclovir –> oral aciclovir
• Prophylactic prevention = human VZV IVIG
What is the causative organism of hand foot and mouth disease?
- Most commonly due to Coxsackie A16 virus • (SEVERE: Enterovirus 71)
- (Atypical: Coxsackie A6)
- Common under 10yo; very contagious
Do you need to be kept out of school for hand foot and mouth disease?
• Don’t need to be kept from school but HPA recommend they do until they feel better
What are the signs and symptoms of hand foot and mouth disease?
o Painful, itchy, vesicular lesions (hands, foot, mouth, tongue, buttocks)
o Mild systemic features – fever, sore throat, spots in mouth → develop into ulcers
What is the management of hand foot and mouth disease?
o Supportive (virus; fluids, analgesia, rest) --> will clear in 7-10 days o Safety net: dehydration, if it doesn’t clear up in 2 weeks, pregnancy
What is roseola infantum?
o HHV6 and HHV7 can present very similarly (HHV6 is more common = Roseola Infantum)
o Most children infected by age 2 (6m to 2yo) – highly infectious, infective during whole period of disease
o N.B. infected very YOUNG compared to other infections
What are the signs and symptoms of roseola infantum?
o High fever and malaise (3-4 days) –> generalised macular (small pink spots) rash (appears as the fever wanes)
- Rash starts on neck/body and spread to arms, lasting 1-2 days, non-itchy, blanching
- Many have a febrile illness and never develop a rash; commonly misdiagnosed as measles/rubella
- Febrile convulsions in 10-15%
o Sore throat, lymphadenopathy, coryzal symptoms, D&V
o Nagayama spots (spots on the uvula and soft palate)
o N.B. lack of Koplik spots (white spots on buccal mucosa)
What are the investigations for roseola infantum?
o HHV6/7 serology (IgG and IgM)
o Measles & rubella serology (similar presentation)
What is the management of roseola infantum?
o Supportive (virus; fluids, analgesia, rest) –> will clear in ~1 week
o No need to stay off school
o Safety net the complications – high fever –> febrile convulsions (10-15%)
Do you need to stay off school with roseola infantum?
No need to stay off school
What are the investigations for HIV in a child?
o Children >18 months –> antibody detection (ELISA)
o Children <18 months (still have transplacental anti-HIV IgG from mother) –> PCR of virus
- Measured at birth, on discharge, 6 weeks, 12 weeks and finally, at 18 months
What is the management of HIV in a child?
o Cord clamped as soon as possible and baby bathed immediately after birth
o Zidovudine monotherapy for 2-4w (low/medium risk) OR 4w PEP combination (x2 NRTI + x1 INI; high risk)
o Women not to breastfeed
o Give all immunisations including BCG (unless a moderate-high risk of transmission)
o Infant testing for HIV at 6 and 12 weeks (at least 2 and 8 weeks after stopping prophylaxis)
What are the signs and symptoms of Hyper IgM (Job/Buckley) syndrome?
Eczema,
coarse facial features,
recurrent RTIs,
cold abscesses, candidiasis
What is ataxia telangestasia?
o Defective DNA repair
o Increased risk of lymphoma
o S/S: cerebellar ataxia, developmental delay, telangiectasia in the eyes
What is Wiskott-Aldrich syndrome?
X-linked –> impaired Wiskott-Aldrich gene; rare; ~7m old
What are the signs and symptoms Wiskott-Aldrich syndrome?
o S/S: eczema, recurrent infections, thrombocytopenia (petechiae, bloody diarrhoea)
- “WATER” = Wiskott-Aldrich Thrombocytopenia Eczema Recurrent infections
- May look like ITP (however, Wiskott-Aldrich would present much younger; ITP = ~4yo)
- Raised = IgA, IgE –> eczema
- Low = IgG, IgM –> recurrent infections
What is the management of Wiskott-Aldrich syndrome?
IVIG –> HSCT
What is Duncans disease?
o X-linked lymphoproliferative disease
o Inability to generate a normal response to EBV
o S/S: death to initial EBV, or develop a secondary B-cell lymphoma
What is a primary allergy?
- child has failed to develop immune tolerance
- Infants → milk (cow’s milk), egg, peanut
- Older children → peanut, fish, shellfish
What is a secondary allergy?
initially tolerate –> become allergic later
- Cross-reactivity between proteins in fruit/nuts and pollen → “oral allergy syndrome”
What are the signs and symptoms of an IgE mediated allergy?
urticaria, facial swelling (angioedema), rash, erythema, nausea, D&V, colicky abdominal pain, nasal itching, sneezing, rhinorrhoea, congestion, cough, tightness, wheeze –> ANAPHYLAXIS in 10-15 mins
What are the signs and symptoms of an non-IgE mediated allergy?
erythema, atopic eczema, GORD, change in frequency of stools, blood/mucus in stools, abdo pain, FTT, infantile colic, constipation, food aversion, pallor
What are the investigations for food allergies?
o Allergy-focussed clinical history:
- Classify the reaction – speed of onset, age of onset, severity, location, reproducibility, history
- Atopic history (personal or FHx)
- Food diary
- Details of food avoidance and why
- Details of any feeding history (age of weaning, breast/formula)
- Cultural/religious factors surrounding food
- Any previous trial elimination of suspected allergen for 2-6 weeks then reintroduction
o Test 1: Skin prick allergy testing (supports an allergy-focussed history and can confirm diagnosis);
o Test 2: Measurement of specific IgE antibodies (RAST)
When do you refer to a specialist for food allergy?
- Faltering growth with ≥1 GI symptoms of allergy
- ≥1 acute systemic or severe delayed reactions
- Severe atopic eczema - Persisting suspicion
- Multiple allergies
What is the management of food allergy?
o Specialist care (if indicated, as above)
o Avoid relevant foods
o MDT – advice from paediatric dietician to avoid nutritional deficiencies
o Teach family and child how to manage an allergic attack (Allergy Action Plan)
- Written information/leaflet + adequate training
• Explain what an allergy is
• Explain some children grow out of allergies (i.e. cow’s milk protein)
- Mild attacks –> antihistamines (i.e. loratadine)
- Severe attacks –> EpiPen (IM adrenaline)
What are the signs and symptoms of allergic rhinitis?
o Coryza, conjunctivitis, chronically blocked nose
o Sleep disturbance, impaired daytime behaviour/concentration
What are the investigations for allergic rhinitis?
To exclude other causes:
o Identify any co-existent asthma (or other atopy)
o Examine nose for nasal polyps, deviated nasal septum, mucosal swelling or depressed or widened nasal bridge
What is the management of occasional allergic rhinitis?
Occasional symptomatic relief:
- 2-5yo → give oral (or liquid if young) antihistamine (cetirizine, loratadine) as required
- Any age: intranasal Azelastine
What is the management of frequent allergic rhinitis?
Frequent symptomatic relief:
- Advise to avoid causative allergen
- Main issue (nasal blockage / polyps) –> intranasal corticosteroid (beclomethasone)
- Main issue (sneezing / discharge) –> intranasal corticosteroid or oral antihistamine
What is specific allergen immunotherapy?
(SCIT = Sub-Cutaneous Immunotherapy)
Used to treat:
• Allergic rhinitis and conjunctivitis
• Insect stings
• Anaphylaxis • Asthma
- Solutions of an allergic allergen are injected SC or sublingually on a regular basis for 3-5 years
- It can provide protection for many years but has a risk of inducing anaphylaxis (specialist supervision)
What is cow milk protein allergy?
- Common (3-6%)
- Can be immediate (IgE mediated) or delayed – usually presents in first 3m of life in formula-fed children
- Infants that are breast-fed can still get a reaction from proteins that the mother eats passing to breast milk
What is the classical symptom of cow milk protein allergy?
3-month-old baby that vomits and has diarrhoea after every feed
What is the investigation of cow milk protein allergy?
Same as food allergy
What is the management of cow milk protein allergy?
1st: Trial cows’ milk elimination from diet for 2-6 weeks:
- Breastfed Babies: mother to exclude cow’s milk protein from her diet
- Consider prescribing daily supplement of 1g of calcium and 10 mcg of vitamin D
- N.B. it takes 2-3 weeks to fully eliminate cow’s milk from breastmilk
- Formula-fed Babies: replacement of cows’ milk-based formula with hypoallergenic infant formula (e.g. extensively hydrolysed formula or amino acid formula –> if SEVERE: use amino-acid based formula)
- Weaned infants/older children: exclude cows’ milk protein from their diet
2nd: Regularly monitor growth, nutritional counselling with a paediatric dietician
3rd: Re-evaluate tolerance to cows’ milk protein (every 6-12 months) –> re-introduce cows’ milk protein into the diet –> if tolerance is established, greater exposure of less processed milk is advised with ‘Milk Ladder’
What is croup?
“Viral laryngotracheobronchitis”
• Affects 6m to 6yo (peak 2yo), autumn
What are the causes of croup?
o Main cause = Parainfluenza
o Other causes = RSV, rhinovirus, influenza
What are the risk factors of croup?
- FHx
- LBW/prematurity
- Autumn/winter
- M>F
What are the differentials for croup?
- laryngomalacia,
- acute epiglottitis,
- inhaled foreign body
What are the signs and symptoms fo croup?
- Coryal symptoms
- Barking cough (from vocal cord impairment)
- Stridor (from inflamed/oedematous airways)
What are the investigations of croup?
- Clinical
- DO NOT EXAMINE THROAT
What is the scoring chart for croup?
Westley score - helps determine admission, treatment
Mild: 0 –> 2:
- Oral dexamethasone + discharge
(“With oral dexamethasone, the symptoms should resolve within 48 hours”)
Moderate: 3 –> 7:
- ADMIT + dexamethasone
Severe: 8 –> 11:
- ADMIT + dexamethasone ± adrenaline
Impending respiratory failure (RR >70): 12 –> 17:
- ADMIT + dexamethasone ± adrenaline
When do you consider admission for croup?
- RR>60
- Other co-morbid condition
- Toxic looking
- Age <3m
What are the medications for treatment of croup?
- 1st line: Oral dexamethasone (fluid suspension)
- 2nd line: Nebulised budesonide or IM dexamethasone
- Respiratory distress (RR >70) –> Neb adrenaline + O2
Give adrenaline first line if they are SEVERE as they wouldn’t be able to swallow dexamethasone
What is the complications of croup?
- secondary bacterial
- superinfection,
- pulmonary oedema,
- pneumothorax
What is acute epiglottis?
Intense swelling of epiglottis associated with sepsis:
- most common ages 1-6yo (can affect all ages)
What is the causative organism of epiglottitis?
Haemophilus influenza type B (HiB)
- uncommon due to vaccination
What are the signs and symptoms of acute epiglottis?
MEDICAL EMERGENCY: N.B. no cough (like in croup)
- High fever (‘toxic-looking’ child)
- Drooling (child cannot swallow as too sore)
- Stridor (soft inspiratory with high RR)
- Immobile, upright and open mouth “Tripod sign”
What is the investigations and management of epiglottis?
MEDICAL EMERGENCY
- Do not lie the child down (their immobile and upright stance is optimal)
- Do not examine the child’s throat (may precipitate total obstruction)
(1) Immediate referral to ENT, paediatrics and anaesthetics –> transfer to ITU/anaesthetics –> secure airway
(2) Blood cultures and empirical ABx (cefuroxime) ± dexamethasone (reduce inflammation)
o Most children recover in 2-3 days
o Rifampicin given to close household contacts as prophylaxis
What is bronchiolotis?
- 2-3% of all infants admitted each year; peak in winter
- <1yo (90% between 1m and 9m; 3-6m peak)
What is the causative organism for bronchiolitis?
Cause = RSV (80%), parainfluenza, rhinovirus, adenovirus, influenza, human metapneumovirus (rare; but PICU care)
Co-infection –> more severe illness
- Bronchiolitis (0-1yo) –> VIF (1-5yo) –> Asthma (>5yo)
- RSV highly infectious so infection control measures
- RFs: pre-term/BPD, passive smoking, LBW, chronic heart disease, hypotonia, (BREASTFEEDING PROTECTIVE)
- Rarely, the illness may cause permanent damage to the airways (bronchiolitis obliterans)
What are the signs and symptoms of bronchiolotis?
- 1st = Coryzal symptoms (which progresses to…)
- 2nd = ± dry wheezy cough, SoB, grunting, high RR/HR
- Subcostal/intercostal recessions, hyperinflation
- Auscultate – how to differentiate from croup/other ‘-itits’
- Fine, bi-basal, end-inspiratory crackles
- High-pitch wheeze (exp > insp)
- Feeding difficulty (from SoB) –> admission
What are the investigations for bronchiolotis?
- clinical diagnosis with SpO2… but can do NPA to confirm
- If there is significant respiratory distress + fever –> carry out a CXR to help rule out pneumonia
What is the management of bronchiolitis?
Hospital admission if:
- <2m old, lower threshold as deteriorate quick:
- Apnoea / central cyanosis / grunting
- SpO2 <92% on room air
- Poor oral fluid intake (≤50% normal in <24hrs) - Severe respiratory distress (i.e. RR>70)
Supportive (nasal O2 + NG fluids/feeds ± nebulised 3% saline) –> CPAP (if respiratory failure)
- <6m old = no beta receptors in lungs so salbutamol won’t work – would give it if over 1yo
If high-risk preterm infant (BPD, congenital HD, immunodeficiency) –> palivizumab (monoclonal AB against RSV)
What is viral episodic/induced wheeze?
Viral Induced/Episodic Wheeze (VEW) – from small airways more likely to narrow and obstruct with inflammation and aberrant immune response to viral infection –> episodic nature resolves by 5yo – thought to be on spectrum:
Bronchiolitis (<1yo) –> viral-induced wheeze (1-5yo) –> asthma (>5yo)
Croup occurs between 6m and 6yo (it does not really lie on the above spectrum though)
RFs: maternal smoking (ante-/post-natal), prematurity, FHx of VEW
What is asthma?
IgE to inhaled allergens, persistent wheezing past pre-school → atopic asthma, other atopic diseases, FHx
What are the signs and symptoms of asthma?
Wheeze (end-expiratory polyphonic), cough, SoB, chest tightness
- Symptoms worst at night / early morning
- Symptoms with non-viral triggers
- Personal or FHx of atopy
- Positive response to asthma bronchodilator therapy
Examination:
- Hyperinflated chest ± accessory muscle use
- Harrison’s sulci (depressions at base of thorax where diaphragm has grown in muscular size)
What are the investigations for asthma?
<5yo: clinical diagnosis
> 5yo: consider… spirometry (FEV1/FVC <70%), bronchodilator (12% pre-/post- difference), PEFR variability
- Vital signs: BP, HR, RR, SpO2, temperature
- PEFR ± diary
- Spirometry + bronchodilator test therapy (improvement of 12%+) ± FeNO testing
What is moderate asthma?
- PEFR 50-75%
- Normal speech
What is the treatment of moderate asthma?
- Moderate; no admission needed:
- Salbutamol (4-hourly; max 4/day)
- Oral prednisolone (for 3d)
- Follow-up in 48hrs
What is severe asthma?
- PEFR 33-50%
- RR >25 (>12 years)
- RR >30 (5-12 years)
- RR >40 (2-5 years)
- HR >110 (> 12 years)
- HR >125 (5-12 years)
- HR >140 (2-5 years)
- Inability to complete sentences in one breath
- Accessory muscle use
- Inability to feed
- SpO2 >92%
What is life-threatening asthma?
- PEFR < 33%
- SpO2 < 92%
- Normal/elevated PaCO2
i. e. >4.8 kPa - Altered consciousness
- Exhaustion
- Cardiac arrhythmia
- Hypotension
- Cyanosis
- Poor respiratory effort
- Silent chest
What is the management of asthma in hospital?
Admit those of SEVERE or LIFE-THREATENING classification
- Burst step (if wheezy and hx of atopy) – give all the below: (+ O2 therapy - maintain SpO2 >92%)
- 3x salbutamol nebs (or up to 10 inhales on a pump) (SE (of too much) = shivering, vomiting)
- 2x ipratropium bromide (Atrovent) nebulisers
- 1x oral Prednisolone (benefit after 4-6h) – ONLY USED IN ASTHMA (general hypoxia does not use this)
- INVOLVE SENIORS IF BUSRT STEP HAS FAILED - IV bolus step – give one of the below:
- If “2 IV bolus MgSO4
- IV bolus Salbutamol (Monitor ECG)
- IV bolus Aminophylline (Monitor ECG, infuse slowly (arrhythmias)) - IV infusion step – give one of the below:
- IV Salbutamol
- IV Aminophylline - Panic step
- Intubate and ventilate if classified as life threatening
- Transfer to ICU
What is the management after a patient has stabilised from acute asthma in hospital?
Give salbutamol 1-hourly –> 2-hourly –> 3-hourly –> 4-hourly –> home when…
- Stable on 4-hourly treatment (can then wean further when at home)
- Peak flow at 75% of best predicted
- SpO2 >94%
Follow up in 2 days of discharge or leaving A&E
What is the patient education for asthma?
Before discharge, the following should be reviewed with the child and family:
- When drugs should be used (regularly or PRN; frequency and dosage)
- How to use the drug (inhaler technique)
- What each drug does (relief vs prevention)
- What to do if asthma worsens (personalised asthma management action plan)
Inform the parents and child about features of poorly controlled asthma (e.g. cough, wheeze, breathlessness, difficulty walking/talking/sleeping, decreasing relief from bronchodilators)
Measurement of peak flow at home will allow earlier recognition of deteriorating asthma
What are the contraindications of beta-agonist/salbumatol?
- Beta blockers
- NSAIDs
- Adenosine
- ACEi
What is the management of asthma in outpatients?
(1) : SABA
- Salbutamol PRN (consider stepping up when using inhaler ≥3x a week)
- Can use a spacer if young or difficulty using
- Acute dose = 1 puff per 30-60s (≤10 puffs) – 5 tidal breaths / puff
- Normal dose = do not exceed 4-hourly puffs (i.e. 4 puffs a day)
(2) : ICS
- Low dose inhaled corticosteroid
- E.G. Becotide (BECLOMETASONE DIPROPIONATE)
(3) : LTRA - Leukotriene Receptor Antagonist (Oral Montelukast)
- 2-16yo, review 4-8w
- 5-16yo; if fail on review, switch LTRA to LABA
- <5yo; if fail on review, stop LTRA and refer to specialist
(4) : ICS increased dose
- Larger dose ICS; consider reducing dose once asthma controlled
- E.G. Flixotide (FLUTICASONE PROPRIONATE)
(5) : Oral steroid
- Lowest dose to maintain control (prednisolone)
- managed by specialist
- Used in any severity exacerbation of asthma for 3-5 days
What is rhinitis?
Common cold, acute and self-limiting inflammation of URT mucosa, involving nose, throat, sinuses or larynx
- Most common infection of childhood
- Rhinovirus (50%); coronavirus (10%); influenza (5%); parainfluenza (5%); respiratory syncytial virus, RSV (5%)
What are the signs and symptoms of rhinitis?
- clear/mucopurulent discharge and nasal block
What are the investigations of rhinitis?
Clinical diagnosis
What is the management of rhinitis?
Health education → self-limiting (no ABx; virus) → may reduce anxiety and unnecessary visits to doctor
- Cough may last 4 weeks after cold
- Generally, recovery after 2 weeks
- Pain → paracetamol or ibuprofen
- Potentially decongestants or antihistamines
What are the complications of rhinitis?
- otitis media
- acute sinusitis
What is sinusitis?
Infection of the maxillary sinuses from viral URTIs –> can get a secondary bacterial infection
- Frontal sinuses do not develop until late childhood, so frontal sinusitis uncommon until after 10yo
What are the signs and symptoms fo sinusitis?
- Pain, swelling and tenderness on front of face
- Influenza-like illness
What are the investigations of sinusitis?
Clinical diagnosis
When do you refer to the hospital of sinusitis?
Refer to hospital if there are symptoms and signs of:
- Severe systemic infection
- Intraorbital or periorbital problems (e.g. periorbital cellulitis, displaced eyeball, double vision)
- Intracranial complications (e.g. features of meningitis)
What is the management of sinusitis lasting less than 10 days?
If the symptoms last <10 days:
- No antibiotic
- Advice – virus, takes 2-3 weeks to resolve, only 2% get bacterial complication, simple analgesia
- Some people may find some relief using nasal saline or nasal decongestants
- Medical advice if symptoms worsen rapidly, do not improve in 3w, systemically unwell
What is the management of sinusitis lasting more than 10 days?
Symptoms lasting >10 days:
- High-dose nasal corticosteroid for 14 days (if >12yo; e.g. mometasone)
- May improve symptoms but unlikely to affect duration of illness
- Could cause systemic side-effects
ABx not indicated (as per guidelines) but can give back up prescription (if given, only use if symptoms don’t get better in 7 days or if symptoms get rapidly worse):
- 1st line: phenoxymethylpenicillin (clarithromycin if penicillin-allergic)
- 2nd line: co-amoxiclav
What is acute otitis media?
Middle ear infection:
- Young eustachian tubes are short, horizontal and function poorly
- Very common; most 6-12 months (most children have 1 episode)
What are the RFs for acute otitis media?
FHx, male gender, cleft palate, Down’s syndrome, smoking in the house
What is the causative organism for acute otitis media?
H. influenza, S. pneumoniae, RSV
What are the signs and symptoms of acute otitis media?
Pain in the ear and fever
What are the investigations for acute otitis media?
- Temperature
- Otoscopy –> bright red bulging tympanic membranes, loss of normal light reaction, perforation and pus
When to admit someone with acute otitis media?
- Severe systemic infection
- Complications (e.g. meningitis, mastoiditis, facial nerve palsy)
- Children <3 months with a temperature >38 degrees
What is the management of acute otitis media?
Advice (otitis media without effusion):
• Acute otitis media lasts about 3 days (up to 1 week) – most recover without ABx
• Use regular ibuprofen/paracetamol
• No evidence to support the use of decongestants or antihistamines
Medical Management:
Antibiotic regimen:
• No antibiotic prescription – most cases will resolve spontaneously –> seek help if symptoms haven’t improved after 3 days or if the child deteriorates clinically
• Delayed antibiotic prescription –antibiotics NOT needed immediately but should be used if symptoms not improved after 3 days or if worsened greatly at any time
• Immediate antibiotic prescription – systemically unwell, age <2yo
What are the antibiotics of choice for acute otitis media?
1st line = amoxicillin, 5 days - penicillin allergy: clarithromycin, erythromycin
What is the treatment of acute otitis media with perforation?
- Oral amoxicillin, 5 days
- Review in 6 weeks to ensure healing
What is glue ear?
“Otitis media with effusion”
What are the signs and symptoms of glue ear?
Asymptomatic except for possible reduced hearing (conductive hearing loss)
• Can interfere with normal speech development –> learning difficulties
• Otoscopy = eardrum is dull and retracted, often with a fluid level visible
What are the investigations of glue ear?
- Tympanometry
* Audiometry
What is the management of Glue ear?
Co-existent cleft palate or Down’s syndrome or other* –> refer to ENT
•* hearing loss, structurally abnormal tympanic membrane, cholesteatoma discharge
No co-morbidities –> active observation for 6-12 weeks:
1) Two hearing tests (pure tone audiometry), 3 months apart
2) If persistent past 6-12 weeks, refer to ENT
- Non-surgical – hearing aids, active monitor for 3m, auto-inflation
- Surgical – myringotomy and grommets
- Benefits do NOT last longer than 12 months
- Problems after extrusion of grommet –> reinsertion of grommets
- SEs: otorrhoea > cholesteatoma, bleeding, tympanosclerosis
What are the complications of glue ear?
- Perforation
- Mastoiditis (chronic OM –> honeycomb structure behind ear inflamed –> discharge + swelling behind ear)
- Meningitis
- Facial nerve palsies
- Febrile convulsions
What is otitis externa?
Inflammation of the outer ear – auricle, external auditory canal and outer surface of eardrum
What is acute diffuse otitis externa?
- Moderate temperature and lymphadenopathy, diffuse swelling, variable pain and pruritus, moving ear/jaw is painful, impaired hearing, bacterial infection common
- Also called Swimmer’s ear
What is chronic otitis externa?
Fungal and associated with underlying skin conditions, diabetes, immunosuppression
- Discharge and itch are common
- Less acute
What is necrotising otitis externa?
Life-threatening extension into mastoid and temporal bones
- Mainly due to P. aeruginosa or S. aureus
- Mainly in elderly
- Criteria – pain, oedema, exudate, micro abscess, granulation tissue, pseudomonas culture
- If suspected requires urgent ENT referral
What are the risk factors otitis externa?
- Hot and humid climates
- Swimming
- Older age
- Immunocompromised - Diabetes
- Wax build-up
- Narrow external canal - Obstruction of canal
- Insufficient wax (predispose infection)
What are the investigations for otitis externa?
Swabs and culture
What is the management of acute otitis externa?
Topical drops of…
• Acetic acid but is only effective for 1 week
• Antibiotics – neomycin or clioquinol
Wicking and removal of debris
- If this fails, reconsider diagnosis
- If cellulitis or cervical lymphadenopathy –> oral antibiotics
What is Tonsillitis (and Pharyngitis and Laryngitis)?
Tonsillitis is a form of pharyngitis with inflammation of the tonsils and purulent exudate (as for Laryngitis)
What is the cause of tonsillitis?
- Group A β-haemolytic streptococcus (GAS) – N.B. rare under 3yo or ≥45yo, common 3-14yo
- EBV (i.e. bacterial or viral) – no amoxicillin treatment (as you can get a generalised maculopapular eruption)
What is the centor score for tonsillitis?
“Centor Score” determines likelihood of bacterial over viral (if ≤3 days of pharyngitis):
- +1 = Exudate/swelling on tonsils (1 = 5-10% chance GAS, no ABx)
- +1 = Tender/swollen anterior cervical lymph nodes (2 = 11-17% chance GAS, rapid strep test)
- +1 = Temperature >38C (3 = 28-35% chance GAS, rapid strep test)
- +1 = Cough absent (4 = 51-53% chance GAS, ABx + rapid strep test)
- +1 = Age 3-14yo (-1 if age ≥45yo) (5 = 51-53% chance GAS, ABx + rapid strep test)
What are the signs and symptoms of tonsillitis?
- Sore throat and fever
- Dysphagia/odynophagia
- Hoarseness, GORD, rhinitis, lethargy, fatigue, post-nasal drip, laryngitis (dysphonia, aphonia)
What are the investigations for tonsillitis?
- ENT exam + temperature
- Rapid strep test (2-5 (modified) Centor score)
- Consider swabs
What is the management of tonsillitis?
Admission if:
- Difficulty breathing
- Clinical dehydration
- Peri-tonsillar abscess (quinsy) or cellulitis
- Marked systemic illness or sepsis
- Suspected rare cause (e.g. Kawasaki disease, diphtheria)
Specific cases to watch out for (take urgent FBC):
- DMARDs – could cause immunodeficiency
- Diphtheria = ‘web’/pseudomembrane
- Carbimazole – idiosyncratic neutropoenia (at back of throat; tx: penicillin + anti-toxin)
Medical Management (if bacterial tonsillitis is confirmed using rapid streptococcal antigen testing)
- Phenoxymethylpenicillin, 10 days, QDS –> prevent sequelae like rheumatic fever
• N.B avoid amoxicillin as can cause widespread maculopapular rash if due to mono
- Clarithromycin if pen-allergic
What is the advice to give for a child with tonsillitis?
- Adequate fluid intake
- Paracetamol or ibuprofen when necessary
- Saltwater gargling
- Lozenges or anaesthetic sprays (e.g. Difflam)
What is GAS?
GAS (S. pyogenes) infection can progress to Scarlet Fever
What are the signs and symptoms of GAS?
After 2-4 day incubation)…
- Fever, coryza (fever, headache, vomiting, myalgia)
- Rash (12-48 hours later) ± erythroderma:
• Neck + chest –> spread to trunk + legs
• Characteristic ‘sandpaper’ texture
• ‘Pastia’s lines’ (rash in prominent skin creases)
- Strawberry tongue (≤2 days = white tongue –> ≥2 days = desquamated strawberry tongue)
- May progress to Rheumatic Fever with a week latency period
What are the investigations for GAS?
Clinical (also, FBC (polymorphonuclear lymphocytosis, eosinophilia), ELISA, rapid antigen test, etc.)
What is the management of GAS?
Phenoxymethylpenicillin (2nd line: azithromycin), notify PHE
What is the advice for GAS?
S/S resolve after 1 week, exclude for 24hrs from nursery from starting ABx
What is cystic fibrosis?
Defective CFTR (CF transmembrane conductance regulator) – cAMP dependent chloride channel, chromosome 7 o 1 in 2,500 live births [most common life-limiting autosomal recessive condition in Caucasians] o 1 in 25 carrier rates o >900 different gene mutations of CFTR (78% are F508, a class 2 mutation = incorrect folding of CFTR protein)
What are the signs and symptoms of CF?
- Meconium ileus (surgery may be needed)
- Growth faltering (difficulty putting on weight)
- Recurring chest infections, wheezing, coughing, SoB
- Damage to the airways (bronchiectasis)
- ABPA, nasal polyps, sinusitis
- Jaundice (cirrhosis, portal HTN)
- Diarrhoea or constipation
- Diabetes mellitus
- Male sterility (absence of the vas deferens)
- CLUBBING FINGERS
What are the investigations for CF?
Screening at birth = heel prick test for IRP / Immunoreactive Trypsinogen (if +ve, further tests are done):
- Sweat test (abnormally high NaCl in sweat) – normal (10-40mmol/L), CF (60-115mmol/L)
- Genetic tests
CXR (hyperinflation, peri-bronchial shadowing, bronchial wall thickening, ring shadows)
What is the management of CF?
MDT-based: Members of the MDT (all should be specialists in CF): - Paediatrician - Nurses - Physiotherapists - Social worker* - Dieticians - Pharmacists - Clinical psychologists
Social workers * can provide extra support for people with CF and their families regarding employment, education, help adjusting to the condition, benefits, respite care, and many other problems
When are the routine reviews for CF?
At specialist CF centres:
- Weekly in 1st month - Every 4w in 1st year
- Every 6-8w when 1-5yo - Every 2-3m when 5-12yo - Every 3-6 months…
What is the respiratory management for CF?
- Increased monitoring with spirometry and symptoms watches
- Physiotherapy twice a day → airway clearance manoeuvres and devices + encourage physical activity
- Mucolytic therapy:
• 1st line: rhDNase (If too young to tolerate, use mannitol dry powder (INH))
• 2nd line: rhDNase + hypertonic saline
• Orkambi: Lumacaftor with Ivacaftor (potentiators and correctors) –> may be effective in treating (prolonging life) CF caused by the F508 mutation (78% of CF sufferers)
What is the infection management of CF?
Common infections: • S. aureus • P. aeruginosa • Burkholderia cepacia complex (can be very severe) • H. influenzae • Non-tuberculosis mycobacterium • Aspergillus fumigatus
- Prophylaxis oral antibiotics (flucloxacillin and azithromycin to reduce exacerbation chance)
- Rescue packs (for prompt IV ABx with any symptoms or signs of infection)
- If end stage CF lung disease – transplant is the only option
- Minimise contact with other CF sufferers
What is the nutritional management of CF?
- High calorie + high fat diet (150% of normal) + fat-soluble vitamin supplements
- Pancreatic enzyme replacement (with every meal) –> CREON
What is the psychological management of CF?
General TEENAGERS and ADULTS Management:
- DM therapy (as DM is becoming more common as CF live longer)
- Liver problems (i.e. cirrhosis, portal HTN) may ultimately require transplantation
• Ursodeoxycholic acid therapy (improve bile flow)
- Distal Intestinal Obstruction Syndrome (DIOS) = viscous muco-faeculent material obstructs the bowel
• Usually cleared by a combination of oral laxatives
- Sterility (only for males, but can father children through intracytoplasmic sperm injection)
What is the new drug for CF?
- Trikafta – a 3 drug combination medicine; but VERY expensive ($311,000/year) – not around in UK yet…
- 2 drugs allow F508del-misfolded CFTRs to get to cell surface, the 3rd allows the protein to fold properly
- Dramatically improves lung function (but only for >12yo)
What is laryngomalacia?
- Congenital abnormality of larynx cartilage predisposing to supraglottic collapse during inspiration
- Upper airway obstruction and stridor (most frequent congenital stridor in infants and cause ‘noisy breathing’ in infancy)
What are the signs and symptoms of laryngomalacia?
- 2-6 weeks old with noisy respiration and inspiratory stridor – worse supine, when feeding or if agitated
(I.E. not present at birth) - GORD ± feeding difficulties, slow, ↑ cough/choking, ↑ respiratory noise
- Normal cry → no abnormality with vocal cords
- Baby otherwise comfortable
What are the investigations for laryngomalacia?
- O2 monitor
- Flexible laryngoscopy
What is the management of laryngomalacia?
- Conservative (close observation and monitoring of growth) –> resolve by 18-24 months (70% by 1-year-old)
• May initially worsen with age, max at 6-8 months
• Complications: respiratory distress, failure to thrive, cyanosis - Endoscopic supraglottoplasty if airway compromise or feeding disrupted sufficiently to prevent normal growth
What is breath-holding attack?
- Occurs during vigorous crying triggered by pain, frustration, anger, fear
- Child cries vigorously for <15 seconds and then becomes silent
- Breath hold on outward breath –> turns blue –> loses consciousness –> child may become floppy or stiff
- Will regain consciousness <1 minute later and breathe normally
What is the management of breath-holding attack?
o Acute attacks resolve spontaneously
o Behaviour modification with distraction
What is the causative org of pneumonia in a child?
- Neonate = Mother’s genital tract commensals (GBS, gram -ve enterococci)
- Infants, young children = RSV, S. pneumoniae, H. influenzae, Bordetella pertussis, C. trachomatis, S. aureus
What is the causative org of pneumonia in a child?
- > 5yo = M. pneumoniae, S. pneumoniae, Chlamydia pneumoniae
- All ages = Mycobacterium tuberculosis should be considered
What are the signs and symptoms of pneumonia?
- Fever, couch, SoB, preceding URTI
- Auscultation: consolidation (stony dull, bronchial breathing, decreased breath sounds), coarse crackles
What are the investigations for pneumonia?
- Basic obs: temperature, O2 saturations, RR, respiratory exam
- FBC, U&Es
- Cyanosis and hydration status
- VBG (blood gases)
- CXR
Bronchiolitis = fine crackles, pneumonia = coarse crackles
What is the management of pneumonia?
Determine severity:
- Measure temperature
- Examine chest
- Record BP, HR and RR
- Note degree of agitation and consciousness
- Note signs of exhaustion
- Note cyanosis and accessory muscle use
- Assess hydration status (cap refill, skin turgor, dry mucous membranes and urine output)
Antibiotics (cannot distinguish viral from bacterial, so give anyway):
- Child <2yo with mild LRTI –> do not have pneumonia usually (so, no ABx)
- 1st line / mild CAP = amoxicillin, 7-14 days
- 2nd line / severe CAP = Co-amoxiclav + macrolides (clarithromycin)
• Alternative = cefaclor
• Macrolides for pen-allergic patients (i.e. clarithromycin)
• In pneumonia associated with influenzae, co-amoxiclav is recommended
When to admit a child with pneumonia is a hospital?
Hospital admission if… (this is the same for any respiratory condition)
- SpO2 <92% on air
- Grunting
- Marked chest recession
- RR >60/min (severe tachypnoea)
- Cyanosis
- T >38C
- Child <3months
- Low feeding
- Low consciousness
When to consider admission of a child with pneumonia?
Consider admission if: dehydration, decreased activity, nasal flaring, predisposing diseases (e.g. CLD)
- Whilst awaiting hospital admission –> supplemental oxygen if SpO2 <92%
What are the investigations for TB?
Manteaux test (if -ve, excludes) –> IGRA test (if -ve, prophylaxis; if +ve, treat)
• Manteaux >5mm = +ve in immunodeficiency
• Manteaux >10mm = +ve in at-risk groups (child <4yo, healthcare workers, IVDU)
• Manteaux >15mm = +ve in normal population
What is the management of TB?
RIPE, RiCES or prophylaxis:
• (MTB) RIPE = 6m Rifampicin, 6m Isoniazid, 2m Pyrazinamide, 2m Ethambutol
• (NTM) RiCES = Rifampicin, Clarithromycin, Ethambutol ± Streptomycin/amikacin
• Prophylaxis = isoniazid
What is whooping cough caused by?
Gram negative bacterial, Bordetella pertussis
What are the signs and symptoms of whooping cough?
Gradually decrease/convalesce but can persist for months):
- 1-week coryzal symptoms (catarrhal phase) followed by…
- Continuous coughing followed by inspiratory whoop ± vomiting ± epistaxis ± conjunctival haemorrhages
o Child = worst at night, may go red/blue
o Infants = apnoea rather than a whoop
What are the investigations for whopping cough?
Investigations (NOTIFY HPU):
o Culture ± PCR NPA (Naso-Pharyngeal Aspirate – i.e. nasal swab) for Bordetella pertussis
o Notify HPU
What is the management of whopping cough?
Admit (and isolate on ward) if <6mo or acutely unwell (see below):
- Significant breathing difficulty (severe paroxysms, apnoea episodes, cyanosis)
- Significant complications (e.g. seizures, pneumonia)
Treatment (if admission is not needed, prescribe an antibiotic if the onset of the cough is within 21 days):
- <1 month = oral clarithromycin
- 1+ months = oral azithromycin
- 2nd line = co-amoxiclav (if macrolides are contra-indicated; not in pregnant adults or babies <6w)
What advice do you give to a child with whopping cough?
- Rest, fluids, paracetamol or ibuprofen
- Educate parents – disease is likely to cause a protracted non-infectious cough (may take weeks to resolve fully); complete any outstanding immunisations; close contacts prophylaxis macrolides
- Avoid nursery until 48 hours of antibiotics or until 21 days after the onset of the cough if not treated
What is BPD/CLD, chronic lung disease?
Chronic lung disease / AKA: Bronchopulmonary dysplasia
• Lung damage in the newborn / child due to:
- Delay in lung maturation (i.e. premature)
- Pressure and volume trauma from artificial ventilation
- Oxygen toxicity
- Infection
What is shown on an CXR in someone with CLD?
widespread opacification
What is the management of CLD?
o Artificial ventilation [bad CLD]
o CPAP or high-flow nasal cannula [normal CLD]
o Corticosteroids (low-dose, short course; fear of abnormal development) –> induce earlier weaning
What are the investigations for cardiac disease?
o CXR, ECG, echocardiography
o Right-sided lesions –> cyanotic (if duct dependent), shunting
o Left-sided lesions –> pump issue, shock
What are the location dependant cardiac problems in kids?
- Right Atrium –> tricuspid atresia (needs ASD/PFO and VSD to continue to allow blood to shunt)
• Ebstein’s anomaly –> less severe, not as reliant on shunt - Right Ventricle –> pulmonary stenosis (if critical, VSD allows shunting), pulmonary atresia, ToF (VSD, overarching aorta, right outflow tract obstruction, RV hypertrophy)
• VSD and Eisenmenger’s syndrome → reversed shunt → late presentation - Left Atrium –> mitral stenosis/atresia
- Left Ventricle –> hypoplastic L heart, coarctation of aorta, interrupted arch, aortic stenosis (AS)
What is transportation of the great arteries?
TGA –> aorta and VC switched, must need re-adjustment for it to be survivable (SURGERY when ready), cyanotic once ductus arteriosus closes
- Ductus arteriosus closes at 2-4 days (when duct dependent lesions* manifest –> acidosis, death)
- *Coarctation of aorta (before PDA), TGA, hypoplastic left heart, critical AS, pulmonary atresia
- Give prostaglandin infusion to keep ductus arteriosus open (5ng/kg per minute)
What are the different timing of cardiac disease?
- First few hours –> AVSD, Tricuspid Atresia, hypoplastic left heart syndrome
o Peripheral transient cyanosis is very common in the first 24 hours of life – reassess them regularly - First few days –> ToGA (day 2), ToF, large PDA in premature contraction
- First few weeks –> aortic stenosis, coarctation of the aorta
- First few months –> any L to R shunt as pulmonary resistance falls
Innocent murmurs:
Still’s murmur
Venous hum (blowing noise)
What are innocent murmurs?
Innocent murmurs:
- Still’s murmur
- Venous hum (blowing noise)
Majority of murmurs in paediatrics are innocent
- Characteristics –> Soft, Systolic, Asymptomatic, left Sternal edge, Sitting/Standing variation, Short
- Can be due to ↑CO in illness or anaemia
What is the nitrogen washout test used for?
Hyperoxia (nitrogen washout test):
- To determine the presence of HD in a cyanosed neonate
(1) 100% O2 for 10mins
(2) If right radial artery PaO2 from blood gas stays low (<15kPa, 113mmHg) –> diagnose of cyanotic CHD
o Only if lung disease and persistent pulmonary HTN of the newborn have been excluded
o If PaO2 >20kPa then it is not cyanotic HD
What does a presentation of a blue baby mean?
Blue Baby = Cyanotic = R-L shunt
Age: TA –> TGA –> ToF; or complete AVSD if breathless + blue –> EM
What does a presentation of a breathless baby mean?
Breathless Baby = L-R shunt
VSD [30%], ASD [7%], PDA [12%]
What does an outflow obstruction in an otherwise well child mean?
P or A stenosis
What does an outflow obstruction with collapse and show mean?
coarctation of the aorta
What increases risk for CHD?
Maternal = Rubella; DM; SLE; warfarin; FAS
Chromosomal = Down’s; DiGeorge; Edwards; Patau’s; Turner’s; William’s; Noonan’s
What an CHD be split into?
Left to right shunts = ASD, VSD, PDA, CoA, aortic valve stenosis
Cyanotic heart disease (right to left shunts) = ToF (1-2m), ToGA, Tricuspid Atresia (at birth)
What are the types of ASD?
o Secundum ASD (80% of ASDs) – defect in atrial septum (foramen ovale does not close)
o Partial AVSD (or ‘primum ASD’) – defect of AV septum
What are the signs and symptoms of ASD?
o Asymptomatic o Recurrent chest infections / wheeze o Arrhythmias (from 40yo+) o Murmur: - Ejection-Systolic Murmur at ULSE - Fixed wide splitting of S2
What are the investigations for ASD?
o CXR o ECG (secundum --> RBBB and RAD; partial AVSD --> ‘superior’ QRS axis) o Echocardiography (diagnostic)
What is the management of ASD?
Usually at 3yo:
o Secundum ASD –> cardiac catheterisation + insertion of occlusive device (percutaneous/endovascular closure)
o Partial AVSD –> surgical correction
What are the types of VSD?
Classified based on size (<3mm [smaller than AV] or >3mm [bigger than AV])
What are the signs and symptoms of small VSD?
- Asymptomatic
- Murmur = loud Pan-Systolic Murmur at lower-left sternal edge (LLSE) - (louder = smaller defect)
- Soft pulmonary 2nd sound
- “Breathless 3m-old baby, normal saturations, poor feeding with tiredness, LOUD murmur”
What are the investigations for small VSD?
Echocardiography diagnostic (all else is normal)
What is the management of small VSD?
- Self-limiting (these close by themselves)
- After these close, they are no longer at a high risk of IE
What is the aim of management of large VAD?
prevent Eisenmenger syndrome
What are the signs and symptoms of large VSD?
- Heart failure, SOB, recurrent chest infections, hepatomegaly
- Murmur = soft Pan-Systolic Murmur (i.e. large defect), mid-diastolic murmur (apical)
- Loud pulmonary 2nd sound
What are the investigations for large VSD?
- CXR (heart failure ‘ABCDE’)
- ECG (heart hypertrophy R wave height >8mm)
- Echocardiography (diagnostic)
What is the management of large VSD?
“CDC” – Calories, Diuretics, Captopril
- Diuretics + captopril
- Additional calorie input
- Surgery is usually performed at 3-6 months to prevent permanent lung damage from pulmonary hypertension and high blood flow (i.e. to prevent Eisenmenger syndrome)
What is PDA?
Connects pulmonary artery to descending aorta (should close by 1 month postpartum)
High –> low pressure flow (not a cyanotic condition, as flow from left to right does not reduce O2 to body)
Continuous high blood flow into pulmonary system –> pul. HTN (pressure above left side) and eventual heart failure through a right –> left shunt forming and Eisenmenger syndrome
What are the signs and symptoms of PDA?
Can be asymptomatic:
- Murmur = continuous ‘machine-like’ / Gibson’s murmur at ULSE
- Left sub-clavicular thrill
- Heaving apex beat
- Wide pulse pressure
- Large volume, bounding, collapsing pulses
- Respiratory symptoms (increased work) –> apnoea, bradycardia, high O2 need
- May be difficult to wean off a ventilator
What is the management of PDA?
- Medical: indomethacin (NSAID) –> will promote duct closure
- Surgical: coil/device closure at cardiac catheter at 1yo, or Ligation
What is Ebstein anomaly?
- Malformation of TV leading to severe Tricuspid Regurgitation –> cardiomyopathy
- TV leaflets are attached to walls and septum
of the right ventricle
Associated with lithium use in pregnancy
What are the signs and symptoms of Ebstein anomaly?
- split 1st & 2nd heart sounds, cardiomegaly
What is the investigation for Ebstein anomaly?
Echo
What is the management of Ebstain anomaly?
- prostaglandin –> cone repair of TV
What is tricuspid atresia?
• The most common form of complex cyanotic
heart disease (there are many others)
• Only left ventricle effective (right too small)
What are the signs and symptoms of tricuspid atresia?
o Cyanosis and SoB - Presents very early (10mins) - Similar to ToF presentation but TetoFallot presents at 1-6m of age o ESM at left sternal edge o Hypoplastic left heart
What is the management of tricuspid atresia?
o 1st: maintain a secure supply of blood to the lungs (i.e. acts like an artificial ductus arteriosus):
- Option 1: Blalock-Taussig (BT) shunt insertion (between subclavian and pulmonary arteries)
- Option 2: Pulmonary artery banding operation to reduce pulmonary blood flow if breathless
IMPORTANT: complete corrective surgery NOT possible in most cases because only one functioning ventricle
o 2nd: Glenn operation –> connect SVC to pulmonary artery
o 3rd: Fontan operation –> connect IVC to pulmonary artery
What is TGA?
TGA = two main vessels OUT of the heart are switched (Pulmonary Artery and Aorta)
o Aorta is connected to the RIGHT atrium and the pulmonary artery is connected to the LEFT atrium
o Oxygenated blood goes TO the lungs and deoxygenated blood is sent to the body – usually fatal immediately but often, the condition is found alongside VSDs, ASDs, PDAs, etc. which aid mixing in the short-term
What are the signs and symtpoms of TGA?
o Cyanosis within a few hours
o Loud S2 (but, no murmur)
What are the investigations for TGA?
o CXR:
- Narrow upper mediastinum (‘egg on side’)
- Increased pulmonary markings
o Echocardiography
What is the management of TGA?
o Immediate prostaglandin infusion (PDA patency)
o Balloon atrial septoplasty (tears atrial septum down to allow mixing)
o Arterial switch surgery to switch the vessels
What is AVSD?
Commonly found in Down’s syndrome –> single large defect connecting all atria and ventricles
What are the signs and symptoms of AVSD?
o Cyanosis at weeks 2-3 of life (no murmur) –> found on routine echocardiography of Down’s
What is the management of AVSD?
o Treat Heart Failure medically + surgery at 3 months
What is ToF (teratology of fallot)?
Most common cause of cyanotic heart disease
Features (4 characteristics): o VSD o Overriding aorta (compresses pulmonary outflow --> pulmonary stenosis --> RVH) o Right ventricle hyperthrophy o Pulmonary stenosis
What are the signs and symptoms of ToF?
o Clubbing
o Murmur = loud ESM at left lower sternal border (pulmonary stenosis)
o Tet spells = crying –> inc. pul. resistance –> R-L shunt –> cyanosis
What are the investigations for ToF?
o CXR (small heart, boot-shaped due to RVH) o Echocardiography
What is the management of ToF?
Medical first, followed by surgical when 6 months old:
o 1st = prostaglandin or alprostadil (maintain PDA), reverse severe cyanosis:
- Severe/prolonged = BT shunt from subclavian-pulmonary artery OR balloon dilation of RV outflow
• Morphine (sedation and pain relief)
• IV propranolol (peripheral vasoconstriction and relieve sub-pulmonary muscle contraction)
• IV fluids + bicarbonate (correct acidosis)
• Muscle paralysis and artificial ventilation to reduce metabolic O2 demand
- Mild cyanosis = self-limiting (<15 minutes cyanosis)
o 2nd = surgery (6 months later)
What is eisenmenger syndrome?
Eisenmenger syndrome = irreversibly raised pulmonary vascular resistance from chronically raised pulmonary arterial pressure and flow (i.e. from a large VSD or chronic PDA) –> a right to left shunt forming
o A cyanotic heart disease
What is the pathophysiology of Eisenmenger syndrome?
o High pulmonary flow from large L-to-R shunt untreated –> arteries thick walled –> resistance increases
o Eventually, shunt decreases, and child becomes less symptomatic
o At 10-15y, shunt reverses and teenager become blue + cyanotic with Eisenmenger syndrome –> death by right-sided heart failure (40-50yo)
- Cyanosis typically affects lower extremities in PDA-Eisenmenger
What is the management of Eisenmenger syndrome?
o Early intervention for pulmonary blood flow
o Heart transplantation not easy but can be done
What is aortic and pulmonary stenosis?
Aortic/pulmonary valve leaflets partially fused together
- AS often co-existent coarctation of aorta ± mitral valve stenosis
What are the signs and symptoms of aortic and pulmonary stenosis?
NO CYANOSIS
- ESM
- Aortic Stenosis = carotid thrill
- Pulmonary Stenosis = no carotid thrill, harsh heart murmur at left sternal edge, no other symptoms
What is the management of aortic and pulmonary stenosis?
transcatheter balloon dilatation
What are the signs and symptoms of coarctation of the aorta?
NO CYANOSIS
- Asymptomatic or
- ESM
- High BP in arms, low BP in legs
- 3rd day of life –> a few weeks of life
- ‘Rib notching’ occurs due to large collateral intercostal arteries forming
What are the investigations for coarctation of the aorta?
- Echocardiography
- MRA (Magnetic Resonance Angiography)
What is the management for coarctation of the aorta?
N.B. re-coarctation can occur later:
- Sick infant –> follow ABC and prostaglandin infusion guidelines
- Well child –> surgical repair OR balloon angioplasty ± stenting
What is Hypoplastic Left-Heart Syndrome?
THIS IS CYANOTIC
• Often will be the sickest of all the left outflow presentations in a neonate
What is the management of Hypoplastic Left-Heart Syndrome?
1st –> ABCs and prostaglandin:
- 2nd –> Blalock-Taussig (BK) shunt (artificial ductus arteriosus) OR Norwood stage 1
- 3rd –> BK shunt removed –> Glenn or hemi-Fontan –> Fontan or TCPC (Total Cavo-pulmonary Connection)
What is SVT?
• Sinus arrhythmia is normal in children and detectable as cyclical change (up to 30bpm) in HR with respiration
- Acceleration on inspiration and slowing on expiration
• SVT = most common childhood arrhythmia
What are the signs and symptoms of SVT?
o HR 250-300bpm –> poor CO, pulmonary oedema
o Neonatal = HF, hydrops fetalis
o Foetus = IUD
What are the investigations for SVT?
o ECG – narrow complex tachycardia (delta wave in WPW), T wave inversion due to ischemia
o Echocardiography
What is the management of SVT?
(SVT) – prompt restoration of sinus rhythm is key to improvement:
(1) Circulatory and respiratory support:
- Tissue acidosis corrected
- Positive pressure ventilation if needed
(2) Vagal stimulating manoeuvres (e.g. carotid sinus massage, cold ice pack to face) –> 80% success
(3) IV adenosine = treatment of choice –> induces AV lock after rapid bolus infusion –> terminates tachycardia
(4) Electrical cardioversion with synchronised DC shock if adenosine fails
- Once sinus rhythm is restored, maintenance therapy will be required (e.g. flecainide or sotalol)
- 90% of children will have no further attacks after infancy
- Children who relapse or at risk treated with percutaneous RFA or cryoablation of accessory pathway
What is rheumatic fever?
- Group A β-haemolytic streptococcus (GAS) / Scarlet Fever
- Children age 5-15y
- Long term damage (chronic progression in up to 80%) leads to mitral stenosis
What are the signs and symptoms of rheumatic fever?
o Latent interval of 2-6 weeks after pharyngeal infection → PPE
- Polyarthritis (tender joints, swelling)
- Pericarditis (endocarditis, myocarditis, pericarditis)
- Erythema marginatum (map-like outlines)
o Sydenham’s chorea 2-6 months later – involuntary movements
What is the diagnostic criteria for rheumatic fever?
Diagnosis (JONE’S CRITERIA) – evidence of recent strep throat and… - 2 majors; OR MAJOR: CASES - 1 major + 2 minors MINOR: FRAPP - Evidence of recent strep throat: • ↑ ISO titre • Other streptococcal Abs • Group A strep on throat culture
What is the acute management of rheumatic fever?
- Bed rest and anti-inflammatory agents
- High-dose Aspirin (suppresses the inflammatory response of the joints and heart)
- Antibiotics (if evidence of persistent infection) – amoxicillin
- Corticosteroids (if the fever and inflammation does NOT resolve rapidly)
What is the prophylaxis management of rheumatic fever?
Monthly injections of benzathine penicillin
- Until 10 years after the last episode OR until the age of 21 years (OR lifelong if severe valve disease)
- Surgical treatment with valve repair or replacement may be required
What are the risk factors of infective endocarditis?
• Risk factors = any congenital heart defect or abnormality which gives rise to a turbulent blood flow (i.e. VSD)
What are the signs and symptoms of infective endocarditis?
- Fever, anaemia, pallor
- Clubbing, splinter haemorrhages
- Necrotic skin lesions (infected emboli)
- Changing cardiac signs
- Splenomegaly
- Neuro signs from cerebral infarct
- Retinal infarcts
- Arthritis or arthralgia
- Microscopic haematuria
How is the diagnosis of infective endocarditis made?
with multiple blood cultures (before ABX) and echocardiography to identify vegetations
What is the management of infective endocarditis?
o Most commonly caused by streptococcus viridians
o High dose penicillin in combination with aminoglycoside (gentamicin or streptomycin) for 6w IV
- Beta-lactam (i.e. amoxicillin) plus aminoglycoside (i.e. gentamycin)
- Antibiotic prophylaxis is not used in the UK regularly
o Surgical removal of infected prosthetic material
What are the signs and symptoms of cardiac failure?
Signs of heart failure:
- SOB, poor feeding, recurrent chest infections, fatigue
Symptoms of heart failure:
- poor weight gain, ↑ RR, ↑ HR, murmur, gallop rhythm, signs of venous congestion, enlarged heart, hepatomegaly, cool peripheries, insufficient CO, respiratory distress, pallor, FTT
What are the neonatal causes of cardiac failure?
Neonate (duct dependent, obstructed systemic circulation) –> hypoplastic L-heart, aortic stenosis, severe
What are the infant causes of cardiac failure?
Infants (defect –> high pulmonary blood flow –> L-to-R shunt) –> persistent VSA, ASD, PDA
What are the older child causes of cardiac failure?
Older children (R- or L-HF) –> Eisenmenger (RHF), Rheumatic HD, cardiomyopathy
Also: volume overload (anaemia or sepsis); pressure overload (HTN)
What are the investigations for cardiac failure?
o Basic – O2 sats, BP, FBC, U&Es, Ca2+, BNP/ANP
o CXR
o ECG
o Echocardiography
What is the management of cardiac failure?
o Multiple faceted approach with specific aims: - Reduce preload: • Diuretics (e.g. furosemide) or GTN - Enhance cardiac contractility: • Dopamine; or • Digoxin, dobutamine, adrenaline, milrinone - Reduce afterload: • Oral ACE inhibitors • Hydralazine, nitroprusside, alprostadil - Improving oxygen delivery • Beta-blockers (e.g. carvedilol) - Enhance nutrition
o If cyanotic –> prostaglandin infusion (alprostadil / prostaglandin E2)
What are the signs and symptoms of UTI?
o Dysuria
o Frequency
o Flank pain
Infants:
- Fever
- Vomiting
- Lethargy or irritability
- Poor feeding / faltering growth
- Jaundice
- Septicaemia
- Offensive urine
- Febrile seizure (>6m)
Children:
- Dysuria, frequency & urgency
- Abdominal pain / lion tenderness
- Fever ± rigors
- Lethargy and anorexia
- D&V
- Haematuria
- Enuresis
- Offensive urine
- Febrile seizure (>6m)
What are the investigations for UTI?
o Urine dip: - Nitrite stick test – very specific - Leucocyte esterase test • +ve in children with febrile illness without UTI • +ve in balanitis and vulvovaginitis
o Urine MC&S
- Diagnose UTI
o Imaging not recommended (unless atypical or recurrent UTIs –> USS –> DMSA ± MCUG):
- Atypical UTI –> USS ± DMSA (<3yo only)
- Recurrent UTI –> USS + DMSA
What is the aetiology of UTI?
- Common (3-7% girls; 1-2% boys ≥1 UTI by 6yo –> 12-30% recurrence in <1y)
- Aetiology – up to 50% have a structural abnormality of the urinary tract
What is the difference between upper and lower UTI?
o Upper / pyelonephritis:
- Bacteriuria + fever >38 degrees
- Bacteriuria + loin pain/tenderness
o Lower / cystitis –> anything else (i.e. dysuria but NO systemic symptoms)
What is the management of UTI? (less than 3 months)
o <3m –> admit to hospital, IV ABx, 5-7 days, then switched to oral prophylaxis - refer to paediatrician
- EMERGENCY
- Urgent USS should be booked (4-6w)
What is the management of upper UTI? (greater than 3 months)
o >3m, upper UTI –> consider hospital admission and IV ABx; OR oral ABx, 7-10 days
- If <6m old when they have their first UTI, an urgent USS should be booked (4-6w)
What is the management of lower UTI? (greater than 3 months)
o >3m, lower UTI –> oral ABx (local guidelines; i.e. trimethoprim, nitrofurantoin), 3 days
- SAFETY NET: parents should bring the child back if they remain unwell after 48 hours (may be atypical)
- If <6m old when they have their first UTI, an urgent USS should be booked (4-6w)
What is the management of recurrent UTI?
Recurrent UTI –> antibiotic prophylaxis, USS (during admission if <6m; urgent if >6m) and DMSA scan (routine)
What are the antibiotics for UTI?
IV ABx –> Co-amoxiclav, cephalexin
Oral ABx –> nitrofurantoin, trimethoprim, amoxicillin, cephalexin
What are the medical measures to prevent UTI?
- High fluid intake to produce high urine output
- Regular voiding
- Ensure complete bladder emptying
- Treatment and/or prevention of constipation
- Good perineal hygiene
- Lactobacillus acidophilus probiotic
What is enuresis?
Potty training started around 2.5y, but every child is different…
o Dry by day = by 4yo
o Dry by day and night = by 5yo (most by 3-4 years old)
What is the management of primary bedwetting without morning symptoms in less than 5?
- Reassure parents – often resolves by 5yo
- Educate – easy access to toilet at night, bladder emptying before bed, positive reward system
What is the management of primary bedwetting without morning symptoms in greater than 5?
- Infrequent (<2/week) –> offer watch-and-see approach
- Frequent:
• 1st line: enuresis alarm, positive reward system (i.e. encourage child to help change sheets)
• 2nd line: desmopressin
• 1st line if >7yo
• 1st line for short-term control (i.e. sleepovers, school trips, etc.)
• 3rd line: combination
What is the advice for enuresis?
- Bedwetting not the child/parent’s fault / take a neutral attitude to bedwetting so not to embarrass
- Reason is excess volume that does not wake the child to go to the toilet
• Reassure that pretty much all children become dry with time as their bladder capacity increases and they learn to wake at the sensation of a full bladder - Child should go to the toilet regularly and particularly before bed
- Avoid caffeine before bed, healthy diet encouraged
- Easy access to toilet
- Waterproof mattress or bed pads can be used
- Lifting or waking during the night does not promote long-term dryness
- Positive reward systems can be used (e.g. rewards for going to the toilet before bed, drinking the recommended amount of fluid during the day)
- SUPPORT: ERIC (Education and Resources for Improving Childhood Continence)
What is the management of primary bedwetting with daytime symptoms?
Referral to enuresis clinic, community paediatrician
What are the investigations for enuresis?
- Renal USS
- Urine diary
- Dipsticks
- MCUG
- Urine MC&S
What is secondary bedwetting?
enuresis that occurs after the child has previously been dry at night for 6 months
What are the management causes of secondary bedwetting in primary care?
- UTI
- Constipation
What are the management causes of secondary bedwetting in secondary care?
- Diabetes
- Recurrent UTI
- Psychological problems
- Family problems
- Developmental, attention or learning difficulties
- Known or suspected physical or neurological problems
What is phimosis?
inability to retract foreskin, “tight” foreskin
o Physiological at birth
- By 1yo –> 50% have a non-retractable foreskin
- By 4yo –> 10%; and by 17yo –> 1%
o If persistent to puberty, can increase risk of infection and cause problems with urination and intercourse
What is the management of phimosis in <2 years old?
reassure and review in 6 months (personal hygiene promotion)
What is the management of phimosis in >2 years old?
circumcision or topical steroid creams (depends on severity)
What is BXO?
o Balanitis Xerotica Obliterans (BXO) = pathological phimosis = scarring of foreskin; rare before 5y
What are the signs and symptoms of BXO?
- S/S: haematuria, painful erections, recurrent UTI, weak stream, swelling, redness, tenderness
What is paraphimosis?
EMERGENCY = foreskin becomes trapped in the retracted position proximal to swollen glans
o Restricting blood flow to head of penis –> penis turns dark purple –> urological emergency
What is the management of paraphimosis?
- 1st line = adequate analgesia, attempt to reduce foreskin (gentle compression with saline soaked swab)
- 2nd line = emergency referral to urologist
What is hypospadias?
Wrongly positioned meatus (ventral in hypospadias; dorsal in epispadias)
o 1 in 200 (epispadias is 1 in 100,000)
o Ventral aspect foramen (through corpus spongiosum)
What are the features and extra features of hypospadias?
o Features:
- Ventral foramen
- Foreskin not fused
- End-membrane
o Extra features ± hooded foreskin
ventrally
± chordee (ventral curvature)
What is the management of hypospadias?
- Do nothing / surgery is not mandatory
- Hypospadias repair surgery (after 3 months) – no circumcision should be done prior as skin required
What is balanoposthitis?
- inflamed/purulent discharge from foreskin
- Single attacks common
What is the management of balanoposthitis?
- Warm baths
- Broad spectrum ABX
- Recurrent (rare) –> circumcision
What is testicular torsion>
Post-pubertal age (mean: 16yo; 11-30yo) most commonly
- Twisting of processes vaginalis
- Must be excluded in any-aged boy with an acute abdomen
- RFs: undescended testes, ‘clapper bell’ testis (testes free hanging on spermatic cord)
- Torsion of appendix testes (Hydatid or Morgagni – a Mullerian remnant) is more common, however, pain evolves over multiple days. Surgery often needed as cannot be distinguished from true torsion however, if a ‘blue dot’ is seen over the superior pole of the testes, no surgery may be needed, only simple analgesia
What are the signs and symptoms of testicular torsion?
o Redness, oedema, N&V
o Sudden onset pain – localised in testis or in the abdomen
What are the investigations for testicular torsion?
o Doppler USS (but this cannot delay surgery)
o Lifting testes increases pain (in epididymitis, it relieves / Prehn’s sign)
What is the management of testicular torsion?
Acute emergency:
o Urgent urological referral
o Exploratory surgery ± bilateral orchiopexy ± orchidectomy ± fixation of contralateral testes
- Raphe incision –> untort testes –> watch reperfusion in warm saline –> decide if orchidectomy needed
o Supportive care – analgesia, sedation, antiemetics
What is orthostatic proteinuria?
Orthostatic proteinuria = common transient cause of proteinuria –> measure urine protein: creatinine ratio (PCR) in a series of early morning urine specimens
What are the stages of AKI?
o AKI Stage 1:
- Increase ≥26 µmol/L; or by 1.5-1.9x the reference sCr
- <0.5mL/kg/hr, 6-12hr
o AKI Stage 2:
- Increase 2.0-2.9x the reference sCr
- <0.5mL/kg/hr, ≥12hr
o AKI Stage 3:
- Increase ≥354 µmol/L; or by ≥3x the reference sCr
- <0.3mL/kg/hr, ≥24hr
- Anuric for ≥12hr
What are the investigations for renal disease?
o Urine dip –> blood, protein, leucocytes, nitrates, glucose
o Renal USS (only if pyelonephritis or if no identifiable cause)
What is the triad of nephritic syndrome?
- haematuria (+/- red cell casts)
- HTN
- proteinuria
What is the traid of nephrotic syndrome?
- low albumin
- peripheral oedema
- proteinuria
Most commonly caused by Minimal Change Disease
What are the signs and symptoms of nephrotic syndrome?
1st = peri-orbital oedema (often misdiagnosed as allergy)
2nd = other delayed features of oedema (i.e. peripheral leg swelling), features of underlying diagnosis
o Steroid-sensitive nephrotic syndrome (80-95% nephrotic syndrome) –> responds to ≤6 weeks of steroids
o Steroid-resistant nephrotic syndrome –> does not respond –> further analysis and specialist care
What are the investigations for nephrotic syndrome?
o Urine dipstick testing, urea, U&Es, urine MC&S, urinary sodium
o FBC, ESR, creatinine, albumin
o Complement levels (C3, C4)
o Anti-streptolysin O or anti-DNase B titres (recent streptococcal throat infection)
o HBV, HCV, malaria screen
What is the management of nephrotic syndrome?
1st –> oral prednisolone for 4-6 weeks (reduced dose from 4+ weeks)
- Renal histology of steroid-sensitive nephrotic syndrome = normal on light microscopy
- However, on electron microscopy, fusion of podocytes is seen (minimal change disease)
2nd (unresponsive or atypical) –> specialised renal biopsy
What is the common cause of acute renal failure?
Most common causes of ARF in children in the UK:
o Haemolytic Uraemic Syndrome / HUS – low RBC, low platelets and AKI; admit these patients
- Shistocytes on blood film (distorted erythrocytes –> MAHA –> shistocytes)
- Haemorrhagic E. coli O157 (produces shiga toxin) –> infectious diarrhoea
o Acute Tubular Necrosis / ATN – usually in context of organ failure in ITU or after cardiac surgery
What are the signs and symptoms of renal failure?
- Oliguria or anuria
- Discoloured urine – brown
- Oedema – feet, legs, abdo, weight gain
- Fatigue, lethargy, N&V
Pre-renal failure
o Fluid replacement /circulatory support is key (n.b. little sodium is excreted as the body is trying to maintain it)
Intrinsic renal failure
o Monitoring water and electrolyte balance
o A high-calorie, normal protein feed will decrease catabolism, uraemia and hyperkalaemia
What is post-renal failure?
o Refer immediately to urology if any of the following are present:
- Pyonephrosis
- Obstructed solitary kidney
- Bilateral upper urinary tract obstruction
- Complications of AKI caused by urological obstruction
o Requires assessment of the site of obstruction (i.e. PUV, VUJ obstruction, etc.)
o Relief can be achieved by nephrostomy or bladder catheterisation
What are the investigations of renal failure?
Renal USS (identify obstruction): o CKD = small kidneys o AKI = large, bright kidneys with loss of cortical medullary differentiation
What is the management of renal failure?
o Diuretics PRN (i.e. to treat fluid overload or oedema whilst the patient is awaiting dialysis)
o Fluid restriction
o Dialysis – indicated if failure of conservative management, multisystem failure or one of the following:
- Refractory hyperkalaemia
- Refractory fluid overload
- Metabolic acidosis
- Uraemic symptoms (encephalopathy, nausea, pruritis, malaise, pericarditis)
- CKD stage 5 (GFR <15mL/min)
o Good prognosis (in childhood) unless masking a more serious condition (e.g. infection following cardiac surgery)
What is acute glomerulonephritis?
- minimal change disease, focal-segmental glomerulosclerosis, membranous; causes:
o Post-infectious (streptococcus in children) o Vasculitis (SLE, ANCA +ve)
o IgA nephropathy (adults, but includes HSP in children)
o Mesangiocapillary glomerulonephritis
o Goodpasture’s
Range of immune mediated disorders --> inflammation in the glomerulus and other kidney compartments, 1st or 2nd: o Minimal change o Diffuse (all glomeruli) o Focal (some glomeruli) o Segmental (only parts of affected glomerulus)
What is minimal change disease?
o Children 2-4yo, 90% nephrotic syndrome
o Normal renal function / complement / BP
o Usually responds to high dose prednisolone (steroid-sensitive nephrotic syndrome)
What is focal segmental glomerulonephritis?
o Segmental scarring and foot process fusion, common in older children
o HTN, impaired renal function
o 50% respond to steroids and 50% ESR
What is membranous nephropathy?
o Widespread thickening, granular deposits of Ig and complement, more common in adults
What are the signs and symptoms of acute glomerulonephritis?
o Nephrotic syndrome – low albumin, oedema, proteinuria
o Nephritic syndrome – haematuria, HTN, proteinuria
o Decreased urine output and volume overload / oedema
o Hypertension and seizures
What are the investigations for acute glomerulonephritis?
o Urine dipstick testing, urea, U&Es, urine MC&S, urinary sodium
o FBC, ESR, creatinine, albumin
o Complement levels (C3, C4)
o Anti-streptolysin O or anti-DNase B titres (recent streptococcal throat infection)
o HBV, HCV, malaria screen
What is the management of acute glomerulonephritis?
Depends on type, severity and complications
- Minimal change –> see “Nephrotic Syndrome” / corticosteroids
- Focal-segmental –> depends on cause…
• Corticosteroids • Immunosuppressive drugs
• Plasmapheresis • ACE inhibitors and ARBs
• Diuretics • Diet change
- Membranous –> supportive, ACEi and ARBs
o Correct water and electrolyte balances
o Treat oedema with diuretics and potassium supplement
o BP management, dietary advice, lipid lowering therapy
What are the features of igA Vasculitis (HSP)?
o Most common vasculitis of childhood – affects the small vessels
o Boys 3-10y, peaks in winter, often preceded by URTI (2-3 days; otherwise if 1-12 weeks, think post-infectious)
o IgA and IgG complex and deposit in organs activating complement
What are the signs and symptoms of IgA Vasculitis?
o Purpuric Rash (100%)
- Extensor surface of legs, arms, buttocks, ankles
- Urticarial –> maculopapular; spares trunk
o Arthralgia and periarticular oedema (60-80%):
- Large Joints
- Joint pain and swelling of knees and ankles
o Abdominal pain (60%)
- Colicky abdominal pain
- Haematemesis, melena, intussusception
o Glomerulonephritis (20-60% –> 97% within 3m of onset):
- Microscopic or macroscopic haematuria
- Nephrotic syndrome (rare)
What are the investigations for IgA Vasculitis?
o 1st –> FBC, clotting screen, urine dipstick, U&Es
o Urinalysis: RBCs, proteinuria, casts, urea, creatinine, 24hr protein to rule out meningococcal sepsis
o Increased IgA, normal coagulation
o Follow-up (weekly for 1 month, 2-weekly for 2 months, 3 months, 6 months, 12 months):
- BP measurements
- Urine dipstick (haematuria)
What is the management of IgA Vasculitis?
o Most cases will resolve spontaneously within 4 weeks
o Symptomatic management:
- Joint pain –> NSAIDs
- Scrotal involvement or severe oedema or severe abdominal pain –> oral prednisolone
o Renal involvement:
- IV corticosteroids (nephrotic-range proteinuria and those with declining renal function
- Renal transplant may be considered in end-stage renal disease
What are the complications of IgA Vasculitis?
- Testicular pain (rare)
- Arthritis of knees
- Intussusception
- Acute renal failure / CRF (as an adult)
- Pancreatitis
What is a nephroblastoma?
Wilm’s tumour
- Most common intra-abdominal tumour of childhood (2nd most common cancer of childhood after ALL)
o <5yo (80%) – often 3yo
o 95% unilateral
o 1-2% familial /FHx - Undifferentiated mesodermal tumour of intermediate cell mass – primitive renal tubules and mesenchymal cells
What are the associations of nephroblastoma?
o Beckwith-Wiedemann syndrome (specific body parts overgrow; usually presents at birth; islet cell hyperplasia)
o WAGR syndrome (Wilm’s tumour, Aniridia, Genitourinary malformations, (mental) Retardation)
o Hemihypertrophy
o 33% with a loss-of-function mutation in the WT1 gene on chromosome 11
What are the signs and symptoms of nephroblastoma?
Commonly:
- Asymptomatic abdominal mass (MOST COMMON)
- Painless haematuria
Less common:
- Abdominal pain
- Anorexia
- Anaemia (haemorrhage into mass)
- Hypertension
What are the investigations of nephroblastoma?
Avoid biopsy as it may worsen the condition:
- USS
- CT/MRI
What are the stages of nephroblastoma?
Staging 1-5:
- 1 = limited to kidney, completely excisable
- 2 = not limited to kidney, completely excisable
- 3 = not limited to kidney, not completely excisable
- 4 = spread beyond abdomen, haematogenous metastasis
- 5 = bilateral (each tumour graded separately)
What is the management of nephroblastoma?
o Nephrectomy + chemotherapy (± radiotherapy prior to surgery if advanced disease)
o 80% cure rate
What are CNS tumours?
• In children, the majority of these are primary, 60% are infratentorial
• Most common solid organ tumour in childhood –> leading cause of childhood cancer deaths
- Polocytic astrocytomas are the most common
What are Pilocytic astrocytomas?
(WHO grade I):
- Most common child brain tumour (20% CNS tumours <14yo)
- Common in neurofibromatosis I (NF1)
- MRI: cerebellar; well circumscribed, cystic, enhancing
- BRAF mutation present in 70% of cases
Histopathology:
- Piloid (hairy) cell
- Rosenthal fibres and granular bodies
- Slow growing with low mitotic activity
What are the signs and symptoms of pilocytic astrocytomas?
- Headaches (worse in morning, coughing)
- Vomiting (on waking)
- Gait problems, co-ordination problems, clumsy
- Irritability, failure to thrive
- Visual changes
- Behaviour or personality change
↑ ICP → papilledema (disc oedema, obscuration of margins, elevation, venous congestion, haemorrhages):
- May take between hours and weeks to develop so may not always be found at presentation
- Benign intracranial hypertension = normal MRI, normal exam, papilloedema, 14yo, high BMI
• Mx: LP with manometry –> siphon off CSF to reduce intracranial pressure + monitor
- Separation of sutures/tense fontanelle, developmental delay or increased head circumference
Focal signs (depending on location of tumour):
- Intracranial HTN –> headache, vomiting, changed mental state
- Supratentorial –> focal neurological deficits, seizures, personality change
- Subtentorial –> cerebellar ataxia, long tract signs, cranial nerve palsies
What are the investigations of pilocytic astrocytomas?
MRI > CT / PET (higher dose of radiation)
What is the management of pilocytic astrocytomas?
MDT: paediatrician, neurologist, SN, OT, PT, SALT, psychology, radiologist, oncologist, CLIC Sargent
- CLIC Sargent = Cancer and Leukaemia in Children social worker
1st line: Surgery (maximal safe resection to obtain and extensive excision with minimal damage to the patient)
- Resectability is dependent on the location, site and number of lesions
- Craniotomy –> debulking (subtotal and complete resections)
- Open biopsies –> inoperable but approachable tumours
- Stereotactic biopsy –> open biopsy not indicated
o Radiotherapy –> used for… low and high-grade gliomas, metastases
o Chemotherapy –> used for… high-grade gliomas (temozolomide)
- Biological agents (EGFR inhibitors, PD-1 inhibitors etc.)
What are paediatric leukaemias?
o 80% are ALL (85% of ALL is B-lineage; 15% T-cell lineage)
o 20% are AML or acute non-lymphocytic leukaemias (Transient Abnormal Myelopoiesis in Down’s syndrome)
o Peak incidence = 2-5yo; M > F
What are the signs and symptoms of ALL?
o Bone marrow failure (anaemia, thrombocytopenia, neutropoenia)
o Local infiltration
- Lymphadenopathy (± thymic enlargement)
- Splenomegaly - “Leukaemia cutis” = petechial rash on face and trunk
- Hepatomegaly
- Testes, CNS (these are ‘sanctuary sites’ as chemotherapy cannot reach them easily)
- Bone (causing pain)
What are the investigations for ALL?
FBC may show ‘tumour lysis syndrome’ = high K+, LDH, PO42-, uric acid
o FBC and clotting studies – anaemia, neutropoenia, thrombocytopaenia, ±DIC
o Peripheral blood film – lymphoblasts (any abnormalities, i.e. “Auer Rods”)
o CXR – enlarged thymus
o Bone marrow biopsy:
- >20% blasts in BM or peripheral blood (and type of blast – B- and T-cell lineage treated differently)
- Immunological and cytogenic characteristics
What is the management of ALL?
IMMEDIATE action high WCC –> reduce Tumour Lysis Syndrome: Allopurinol + hyperhydration
o Specific therapy: - Systemic chemotherapy
• 2-3 years of therapy (induction and consolidation)
• Boys treated for longer because testes are a site of accumulation of lymphoblasts
- CNS-directed therapy (e.g. intrathecal)
• This is done in all patients even if initial LP is negative (6-8 treatments)
• Can also be done by giving high-dose chemotherapy so that it penetrates the BBB - Molecular treatment:
• Imatinib (Tyrosine Kinase Inhibitor / TKI) for Ph +ve cases
• Rituximab (monoclonal antibodies against CD20 – for B-cell depletion) - Transplantation
o Supportive care
- Blood products
- Antibiotics (broad-spectrum for fever; prophylaxis for PCP infection)
- General medical care
• Central venous catheter • Hyperuricaemia management
• Hyperkalaemia management
• Sometimes haemodialysis
What is the prognosis of ALL?
o Children: 5-year disease-free survival of 80%
o Adults: 5-year disease-free survival of 30-40%
What are the bad prognostic factors of ALL?
- Non-Caucasian
- Male sex
- Age <2 or >10yo
- T/B-cell surface markers
What is a lymphoma?
Lymphoma (Paediatric-specific) = Hodgkin’s, Non-Hodgkin’s, (Burkitt’s)
o NHL = more common in childhood
o HL = more common in adolescence
What are the key differences between HL and NHL?
o Hodgkin is more localised (usually only one nodal site)
o Hodgkin spreads contiguously to adjacent lymph nodes (NHL involves multiple sites and spreads sporadically)
What are the types of HL?
o Classical (subtypes exist) o Nodular Lymphocyte Predominant HL (NLPHL)
What are the signs and symptoms of HL?
- Painless lymphadenopathy (in neck)
- Painful on drinking alcohol (in 10%)
- B symptoms (fever, night sweats, weight loss)
What are the investigations for HL?
o LN biopsy – Reed-Sternberg cells “Owl’s eyes”
o PDG-PET or CT staging – Ann Arbor Staging –>
o Bloods – FBC, ESR, LFTs, LDH, Alb – prognostic markers
o Immunophenotyping – CD30, CD15 diagnostic markers
What is the management of HL?
o Combination chemotherapy (ABVD) ± radiotherapy
- Adriamycin
- Bleomycin
- Vincristine
- DTIC (Dacarbazine)
o PET scanning monitors response and guides therapy
What are the signs and symptoms of NHL?
Can be high- or low-grade, describing the speed and aggressiveness of onset:
o Painless lymphadenopathy ± compression symptoms
o B symptoms (fever, night sweats, weight loss)
What are the investigations for NHL?
o LN/BM biopsy (cytology, histology, immunophenotyping)
o PDG-PET or CT staging – Ann Arbor Staging
o Bloods – FBC, ESR, LFTs, LDH, Alb – prognostic markers
What is the management of NHL?
(1) Urgent chemotherapy
(2) Monitor only
(3) Antibiotic eradication (H. pylori gastric MALToma)
What is the management of diffuse B cell lymphoma?
Treated with 6-8 cycles of
- R(Rituximab)-CHOP
- Cyclophosphamide
- Rituximab to deplete B-cells
- Adriamycin
- Vincristine
- Prednisolone
Some eligible for HSCT
What are the 3 types of burkitts lymphona?
o Endemic – EBV infection (chronic malaria may reduce EBV resistance):
- Most commonly in children living in malaria endemic regions
- Most common childhood cancer in Africa
- Involves JAW or facial bones
o Sporadic – EBV infection
- Western world, associated with EBV infection
o Immunodeficiency – HIV infection
- Usually associated with HIV infection
- Or in those immunocompromised post-transplant
What is the histopathology of burkitts?
o Arises from germinal centre cells
o Starry-sky appearance
What is the molecular structure of burkitts?
o C-myc translocation (8;14, 2;8 or 8;22)
What is the prognosis of burkitts?
Bad… the fastest growing human tumour known
What is a osteosarcoma?
Osteosarcoma incidence > Ewing’s sarcoma incidence (but Ewing’s is seen more often in younger children)
o Most common primary bone malignancy of childhood / most common bone sarcoma
o Occurs at the end of long bones (60-75% in knee)
o M > F; 10-30yo (75% <20yo)
What are the symptoms of osteosarcoma?
o Relatively painless, mass/swelling, restricted movement
o Rapid metastasis to lung
What are the investigations of osteosarcoma?
o XR (bone destruction and formation)
- Soft tissue calcification = sunburst appearance
- Elevated periosteum = “Codman’s triangle”
o Biopsy
o CT/PET/MRI
What is the management of osteosarcoma?
o Specialised sarcoma team (London) management o Surgery (limb-sparing surgery ± amputation) + chemotherapy o Post-treatment --> OT, PT, dietician, orthotics/prosthetics, support (sarcoma UK)
What is the difference between osteosarcoma, ewings sarcoma and chrondrosarcoma?
- Osteosarcoma = forms bone
- Ewing’s sarcoma = forms mesenchymal tissue (neuroectodermal)
- Chondrosarcoma = forms cartilage (occurs in those >40yo)
What is the prognosis of osteosarcoma?
Poor (60% 5-year survival)
What is a Ewing sarcoma?
Primitive Neuroendocrine Tumour (PNET) / malignant, small round blue-cell tumour
o <25y, median 15y
o Long bones of arms, legs, chest, skull and trunk
o Associated t (11:22) (EWSR1/FLI1) (q24; q12)
What are the signs and symptoms of Ewing sarcoma?
o Mass or swelling and bone pain
o Malaise, fever, paralysis (may precipitate osteomyelitis)
What are the investigations of Ewing sarcoma?
o XR (bone destruction with overlying onion-skin layers of periosteal bone formation) o Biopsy (small round blue cells) o CT/PET/MRI
What is the management of Ewing sarcoma?
o Specialised sarcoma team (London) management
o Surgery (limb-sparing surgery ± amputation) + chemotherapy (VIDE) + radiotherapy
o Post-treatment –> OT, PT, dietician, orthotics/prosthetics, support
o Prognosis –> survival 5-year at 75% (20-40% for metastasis)
What is a retinoblastoma?
Malignant tumour of retinal cells; RARE but accounts for 5% of severe visual impairment in children o Unilateral (80% spontaneous, 20% hereditary) or bilateral (100% hereditary) o Autosomal dominant, chromosome 13 --> encodes pRB (protein retinoblastoma) o Average age of diagnosis = 18 months
What are the signs and symptoms of retinoblastoma?
o Red reflex -ve (i.e. a white pupillary reflex instead of normal red one)
o Squint
What are the investigations of retinoblastoma?
o MRI and EUA
N.B. biopsy not required; treatment based on ophthalmology findings
What is the management of retinoblastoma?
o Enucleation (removal of eye, leaving eye muscles intact) o Chemotherapy (bilateral) + laser treatment to retina ± chemotherapy (advanced disease)
What is the prognosis of retinoblastoma?
o Prognosis:
- Most cured, some may be visually impaired (>90% survive to childhood)
- Risk of secondary malignancy (sarcoma) in survivors of hereditary retinoblastoma
What is a neuroblastoma?
Arise from neural crest tissue in adrenal medulla and SNS; most common extra-cranial tumour in children
o Spectrum of disease = benign (ganglioneuroma) –> malignant (neuroblastoma)
o Most common <5yo; prognosis from AGE and STAGE of disease (>1yo, MYCN gene = poor prognosis)
What are the signs and symptoms of neuroblastoma?
o Abdominal mass (but tumour can be anywhere on the sympathetic chain)
o Systemic symptoms – WL, pallor, hepatomegaly, bone pain, limp
o Symptoms of spinal cord compression
o Over 2yo –> symptoms of metastatic disease (bone pain, BM suppression, WL, malaise)
What are the investigations for neuroblastoma?
o Radiological findings
o Raised urinary catecholamine metabolites (VMA/HVA)
o Confirmatory biopsy from BM and MIBG sampling
What is the management for neuroblastoma?
o Spontaneous regression can occur in very young infants
o Localised primaries without metastatic disease –> surgery alone
o Metastatic disease –> chemotherapy + radiotherapy (with autologous stem cell rescue) + surgery
- High risk of relapse
What is the prognosis of neuroblastoma?
cure rates for children with metastatic disease is around 40%
What is haemophilia?
Deficiency of factor 8 (A) or 9 (B) – intrinsic pathway defect – i.e. detect with APTT prolongation
- X-linked recessive, primarily affecting males (A: 1 in 10,000; B = 1 in 50,000)
- If a female is affected, it is likely they have Turner’s syndrome (only 1 X chromosome)
- Most present around 1yo (when walking begins, and falling over begins)
What are the signs and symptoms of haemophilia?
Presenting around 1yo:
- Heamarthrosis (leading to arthritis)
- Suspicions of NAI (if no FHx)
Presenting at neonatal age (40%):
- Intracranial haemorrhage
- Bleeding circumcision
- Prolonged bleeding from venepuncture
What are the investigations for haemophilia?
o Neonate history (bleeding at… vit-K injection, umbilical cord separation, circumcision)
o FHx
o Clotting studies (PT/INR [extrinsic] and APTT [intrinsic]) –> APTT prolonged, PT normal
o Platelet count + factor 8 levels (n.b. F8 is low in vWD as well as Haemophilia A)
Same S/S:
- Girl = vWD (AD)
- Boys Haemophilia A
What is the management o haemophilia?
MDT: haemophilia centres:
o Mild haemophilia A –> Desmopressin (stimulates F8 and VWF release)
o Severe haemophilia –> prophylactic factor replacement (via central venous access device, i.e. HICKMAN)
- At home, central prophylactic concentrate replacement; begins at 2-3yo, 2-3x/week
- Raise baseline to above 2%
o If actively bleeding:
- IV infusion of F8/9 concentrate
• Minor bleeds –> raise to 30% normal to treat minor/simple bleeds
• Major bleeds –> raise to 100%; maintain at 30% for 2/52 to prevent secondary haemorrhage
o AVOID:
- IM injections
- Aspirin
- NSAIDs
What are the complications of haemophilia?
- Chronic arthropathy,
- compartment syndrome,
- haematuria,
- HBV (transfusion-related)
What is ITP?
Idiopathic TP and (auto)immune TP are the same thing (‘immune’ is the newer terminology)
o ITP is the most common cause of thrombocytopaenia in childhood; 4 in 100,000
o Presents between 2yo and 6yo; often 1-2w after viral infection
o Aetiology = immune destruction of platelets by IgG autoantibodies
What are the signs and symptoms of ITP?
Short history (days to weeks):
- Petechiae, purpura
- Often presents much more acutely than in adults
- Superficial bruising
- Other: epistaxis (and other mucosal bleeding); RARE: intracranial bleeding (0.1-0.5%)
What are the investigations for ITP?
Diagnosis of exclusion (i.e. exclude genetic and leukaemia/cancer causes):
o FBC
o Blood smear
What is the management of ITP?
o 80% of children –> acute, benign and self-limiting condition –> resolve spontaneously within 6-8 weeks
- Manage at home
- Treatment only if evidence of major bleeding (e.g. intracranial) or persistent minor bleeding
o Asymptomatic or Minor Bleeding (plts >20 x109/L) –> observation
o Major Bleeding (plts <20 x109/L) –> IVIG + corticosteroids ± anti-RhD
- Life-threatening haemorrhage –> platelet transfusion (raises plts for only a few hours)
- Anti-RhD (anti-D coats the RBCs and is preferentially removed by the reticuloendothelial system in preference to the AB-covered platelets, thus conserving platelet levels)
o Chronic Disease (if plts remain low 6/12 after diagnosis)
- Mycophenolate mofetil
- Rituximab
- Eltrombopag (thrombopoietin agonist)
- 2nd line = splenectomy
What are the main causes if IDA?
o Inadequate intake - common in infants
o Malabsorption
o Blood loss
What are sources of iron?
o Breastmilk (low content, but 50% is absorbed)
o Infant formula
o Cow’s milk (high content, only 10% absorbed)
o Solids introduced at weaning (i.e. cereal)
What are the signs and symptoms of IDA?
o Asymptomatic (until <60-70g/L)
o Feed slowly / tire quickly
o “Pica” (eating soil, dirt, etc.)
What are the investigations for IDA?
o Microcytic (low MCV)
o Hypochromic
o Low ferritin
What is the management of IDA?
o Dietary advise –> dark-green vegetables, meat, apricots, raisins
o Oral ferrous sulphate, 200mg, TDS –> until normal Hb –> continue for at least 3/12 after:
Monitoring:
• Re-check iron levels 2-4w after therapy start (at 3w, Hb should rise 2g/100mL)
• If normal, check at 2-4m (if not, address compliance issues)
Advise black stools are a common and normal side effect (reduce by eating with food / reduce dose)
What are the complications of IDA?
cognitive impairment, impaired muscular performance, preterm delivery
What are the causes of microcytic anaemia?
Thalassaemia Anaemia of Chronic Disease Iron deficiency anaemia Lead poisoning Sideroblastic anaemia (congenital)
What are the causes of normocytic anaemia?
Renal failure Iron deficiency (early) Anaemia of Chronic Disease (early) Aplastic anaemia, Acute blood loss Leukaemia Myelofibrosis
What are the causes of macrocytic anaemia?
Alcoholism Myelodysplastic syndrome, Multiple myeloma Hypothyroidism, Haemolytic anaemia Liver failure Folate/B12 deficiency
What is the structure of haemoglobin?
o Chr 11 (beta, gamma, delta) and Chr 16 (alpha)
o beta globin (Chr 11) changes affect HbA (alpha2beta2)
o HbA synthesis becomes predominant around 6m of life
as the HbF synthesis drops and HbA takes over
What is a haemoglobinopathy?
Structurally abnormal haemoglobin
o Sickle Cell Anaemia = defective beta globin chain (point mutation at codon 6 on Chr 11) –> glutamine to valine)
o Autosomal recessive; 1 in 2,000 births
o RFs: Afrocaribean of African descent
What are the different sickle cell phenotypes?
Sickle cell train/HBAS:
- Low HbA
- Extra HbS+
- Mild anaemia
Sickle cell anaemia:
- very low HbA
- high HbF
- Extra HbS+++
- Sickle cell anaemia
HbC disease:
- Low HbA
- Extra HbC+
- Milder sickling than HbSS
What is thalassemia?
Reduced rate of synthesis of haemoglobin
o Beta-thalassaemia = reduced synthesis of beta globin chain
o Autosomal recessive –> manifests after the first 3-6m of life (decline of HbF and increased production of HbA)
What are the different beta-thalassemia phenotypes?
Beta thal trait/minor:
- Low HbA
- High HbA2
- Asymptomatic/microcytosis
Bete thal intermedia:
- Low HbA
- High HbA2
- High HbF
- Mild anaemia
Betal thal major:
- Very low HbA
- High HbA2
- very high HbF
- Major anaemia
What are the alpha thalessemia phenotypes?
- α-thalassemia major / Hb Barts (x4 α-globin deletion) –> hydrops fetalis and death in utero
- HbH disease (x3 α-globin deletion) –> mild/mod anaemia (occasionally transfusion dependent)
- α-thalassemia trait (x1 or x2 α-globin deletion) –> asymptomatic with mild/no anaemia
What is the gold standard investigation for haemoglobinopathy?
gold-standard diagnosis of either sickle-cell disease or thalassaemia
What are the different beta globin genes?
- Normal beta globin chain = Glutamine = very +ve
- Defective beta globin chain (HbS) = Valine = neutral
- Defective beta globin chain (HbC) = Lysine = very -ve
What are the signs and symptoms of sickle cell disease?
- Hand and foot syndrome (swollen hands & feet; dactylitis*)
- Acute chest syndrome (ACS)
- Splenic sequestration –> anaemia, shock, death
- Painful crises / vaso-occlusive (± priapism)
- Infection (pneumococcus and parvovirus)
- Splenomegaly (only in children)
IMPORTANT: the anaemia in sickle cell anaemia is NOT totally due to haemolysis alone HbS is a low-affinity Hb meaning that it more readily releases O2 to tissues, so the EPO-drive is lower which results in anaemia
What are the investigations for sickle cell disease?
- Family origins questionnaire (FOQ) – Afrocaribean of African descent, some northern Europe
- Guthrie testing after antenatal screening
- Solubility test (if cloudy, do the next step) –> haemoglobin electrophoresis (gold-standard)
- FBC and blood smear (sickle cells, Howell-Jowell bodies (hyposplenism), nucleated RBCs)
What is the management of sickle cell disease?
o Education –> minimise trigger exposure for crises (cold, dehydration, excessive exercise, hypoxia)
o Vaccination –> immunisation against encapsulated organisms (e.g. Pneumococcus / S. pneumoniae and HiB)
- Parvovirus B19 infection infects RBC precursors and can lead to an APLASTIC anaemia
- In Parvovirus B19 infection, reticulocyte counts will be LOW
o Prophylaxis:
- OD oral penicillin
- OD oral folic acid (due to… hyperplastic erythropoiesis, growth spurts, increased turnover)
What is the treatment of an acute sickle cell crisis?
o Treatment of Acute Crises:
- Analgesia (avoid morphine <12 years)
- O2
- Hydration
- Exchange transfusion (ACS, priapism, stroke)
- Antibiotics (in infection; i.e. parvovirus)
What is the treatment of chronic sickle cell problems?
Treatment of Chronic Problems:
- Hydroxycarbamide (for recurrent hospital admission for ACS or vaso-occlusive crises)
• Stimulated HbF production
• Monitor for white blood cell suppression
- HSCT (severe cases)
What is the prognosis of sickle cell disease?
- Premature death due to complications
- 50% of patients with the most severe form of sickle cell disease will die <40 years
- Aplastic anaemia from B19 infection
What are the signs and symptoms of beta thalassemia major?
- Extramedullary haematopoiesis –> bone expansion, hepatosplenomegaly, frontal bossing
- Anaemia (3-6m of age) –> heart failure, growth retardation
- Iron overload –> heart failure, gonadal failure
What are the signs and symptoms of beta thalessemia trait?
- Asymptomatic
- Microcytosis (normal/low-normal haemoglobin)
What is the management of beta thalessemia major?
- Prenatal diagnosis (FOQ)
- Beta thalassaemia major:
• Blood transfusion (± iron chelation –> desferrioxamine, deferiprone)
• HSCT (for beta thal major; reserved for children with an HLA-identical sibling)
What is the management of beta thalessemia minor?
- Prenatal diagnosis (FOQ)
- Beta thalassaemia minor:
• No treatment necessary
What is HDN?
Aetiology = maternal ABs against foetal blood group antigens
- <2 days old
- Important Groups – Anti-D, Anti-A/B, anti-Kell
- Mother always Rh -ve; baby is always Rh +ve
- Mother ABs cross placenta or mix at delivery –> haemolysis
- Sensitise when mother-baby blood mixing
What are the signs and symptoms of HDN?
- Yellow amniotic fluid
- Hydrops fetalis (hepatosplenocardiomegaly)
- Pallor
- Jaundice 24-36 hours after birth (<2 days)
What is the management of HDN?
Prevention:
- Prophylaxis after sensitising events <72hrs –> Kleiheur test can determine need for more…
• 250 IU before 20 weeks • 500 IU after 20 weeks
- Routine Antenatal Anti-D Prophylaxis (if necessary, from antibody screen at 28 weeks):
• Either:
o 2 doses of 500 IU at 28 and 34 weeks; OR
o 1 dose of 1500 IU at 28 weeks; AND
• Foetal cord gas post-delivery and prophylaxis <72 hours (500 IU anti-D) if baby +ve Kleiheur
Treatment:
- Phototherapy (uBR) and IVIG (if bilirubin is rising >8.5 umol/L/hr)
- Severe or in utero –> transfusion (O, Rh -ve blood) into umbilical vein –> delivery 37-38w
What are inherited metabolic disease leading to toxicity?
- Aminoacidopathies (PKU, G6PDD, homocystinuria)
- Urea cycle disorders (Citrullinaemia type III)
- Organic acidaemias (Isovaleric acidaemia)
- Carbohydrate disorders (Galactosaemia)
- Neurotransmitter disorders
What are inherited metabolic disease leading to energy metabolism?
- Mitochondrial disorders (Barth (birth), MELAS (5-15yo), Kearns-Sayre (12-30yo))
- Fatty-acid oxidation disorders (MCADD)
- Glycogen storage disease (Type 1 to 5; von-Gierke’s, Pompe, Cori, Anderson, McArdle)
What are inherited metabolic disease leading to complex organelles?
- Lysosome storage disorders (Mucopolysaccharidoses, oligosaccharidosis, mucolipidoses)
- Peroxisomal disorders (Zellweger syndrome)
What is von Glerke’s disease?
- Hypoglycaemia
- Lactic acidosis
- Neutropoenia
What diseases are screened for in the newborn blood test?
o Congenital hypothyroidism
o Cystic fibrosis
o Sickle Cell Disease
o 6 Inborn Errors in Metabolism / IEM (see below)
What is G6PDD?
G6PD is the rate-limiting enzyme in the pentose-phosphate shunt (vital to prevent oxidative damage to RBCs)
- RFs: 10-20% people from… central Africa, Mediterranean, Middle East, Far East
- X-linked (affects males, homozygous females or ‘Lionised’ females – random X-chromosomes inactivated)
Causative drugs:
- Antimalarials (i.e. quinine)
- Analgesics (i.e. high-dose aspirin)
- Antibiotics (i.e. nitrofurantoin)
- Chemicals (i.e. fava beans, naphthalene moth balls)
What are the signs and symptoms of G6PDD?
o Neonatal jaundice (<3/7 of life – most common cause requiring transfusion)
o Acute intravascular haemolysis (precipitated by… infection, drugs, fava/broad beans, mothballs):
- Fever
- Malaise
- Abdominal pain
- Dark urine
What are the investigations of G6PDD?
Nothing abnormal between acute episodes…
- Raised G6PD during an acute episode – higher enzyme concentration in reticulocytes
- Reduced G6PD after the acute episode
- Blood film (acute) –> Heinz bodies, bite cells
1st line Ix = G6PDD levels now and in 1 month
What is the management of G6PDD?
- Aware of signs of acute haemolysis (jaundice, pallor, dark urine)
- Avoidance of specific drugs, chemicals and foods
- Acute haemolysis –> supportive care + folic acid (blood transfusion rarely required)
What is Gaucher disease?
The most common lysosomal storage disease (subtype: sphingolipidosis)
- Gaucher disease (Beta-glucosidase deficiency (n.b. Pompe’s disease = alpha glucosidase))
- Fabry disease (Alpha-galactosidase A defect)
- Niemann-Pick Disease type C (Cholesterol trafficking disorder)
- Wolman disease (Lysosomal acid lipase defect)
Autosomal recessive; most common lysosomal storage disease
o Carrier rate of 1 in 100 –< 1 in 40,000 births
o Ashkenazi Jew carrier rate 1 in 10 –> 1 in 500 births; other Ashkenazi Jew diseases…
- Tay-Sachs disease = hexosaminidase A deficiency; S/S: deaf, blind, progressive neurodegeneration
- Inflammatory bowel disease
What are the signs and symptoms of gauchers disease?
Acute infantile form:
- Hepatosplenomegaly
- Neurological degeneration with seizures
Chronic childhood form (most common):
- Hepatosplenomegaly
- BM suppression (with anaemia)
What are the investigations for gaucher disease?
- FBC and blood film
- LFTs and clotting
- USS of liver and spleen (BM aspirate –> Gaucher cells)
What is the management of gaucher disease?
- Splenectomy
- Bisphosphonates
- Enzyme replacement (IV recombinant glucocerebrosidase)
- Anaemia treatment
What is galactosemia?
There are 3 forms of galactosaemia but the most common is Galactose-1-Phosphate Uridyl Transferase deficiency
o Gal-1-PUT deficiency
What are the signs and symptoms of galactosemia?
Usually presents in neonatal life with cBR and hypoglycaemia:
o cBR
o Hepatomegaly
o Hypoglycaemia
o Sepsis (gal-1-phos inhibits the immune response)
If not picked up in infancy, can present in early life with bilateral cataracts
- High concentrations of Gal-1-phosphate –> substrate for aldolase –> cataracts
What are the investigations of galactosemia?
o High galactose in urine
o Red cell Gal-1-PUT
WHat is the management of galactosemia?
Avoid galactose (e.g. milk)
What are the types of glycogen storage disease?
o Type 1 - von Gierke’s glucose-6-phosphatase deficiency
o Type 2 - Pompe’s alpha-glucosidase deficiency
o Type 3 - Cori’s / Forbe’s amylo-1, 6-glucosidase deficiency
o Type 4 - Anderson’s 1, 4-alpha-glucan branching enzyme deficiency
o Type 5 - McArdle’s myophosphorylase deficiency
What is con gierkes disease?
Glucose cannot be liberated from glucose-6-phosphate (G6P builds up inside the cells as G6-phosphotase is used to remove the high-energy phosphate group so the glucose can leave the cell)
What is McArdles disease?
Often has muscle cramps / weakness after first few minutes of exercise –> ‘second wind’ of energy
What are the signs and symptoms of glycogen storage disease?
o Hypoglycaemia –> G6P cannot leave cells
o Lactic acidosis –> G6P builds up as lactate
o Neutropenia –> G6P supresses the immune system
Hepatomegaly
Nephromegaly
What is the management of glycogen storage disease?
o Manage intake of CHO carefully to avoid storage o Pompe (T2-specific) --> alpha-glucosidase injections (Pompe is both a GSD and a lysosomal storage disease)
What is acne vulgaris?
• Disorder of pilosebaceous follicles found in the face and upper trunk – at puberty, increased sebum –> blocked glands
- Bacterium = Propionibacterium acnes
- 20% of adolescents have moderate to severe acne
• Levels of acne:
o Comedones (follicles impacted and distended by incompletely desquamated keratinocytes and sebum)
- Open (blackheads) or closed (whiteheads)
o Papules and pustules
o Nodulocystic and scarring
What are the signs and symptoms of acne vulgaris?
o Greasy face
o Comedones, papules, pustules, nodules
o Psychological impact, low self-esteem
What is the advice management of acne vulgaris?
For age 12yo onwards:
o Advice:
- Cleaning face –> avoid over-cleaning the skin (twice a day with gentle soap is ok)
- Make-up –> use emollients and cleansers, non-comedogenic preparations
- Face –> avoid picking and squeezing scars due to the risk of scarring
What is the medication management of mild to moderate acne vulgaris?
For age 12yo onwards:
- Topical retinoid ± benzoyl peroxide (BPO) (Adapalene + BPO)
- Topical antibiotic + benzoyl peroxide (BPO) (Topical clindamycin 1% + BPO)
- Azelaic acid 20%
may take up to 8w to begin working… / review each step at 8-12w
What is the medication management of moderate acne vulgaris?
Not responding to topicals:
• Oral antibiotic (max 3m) + BPO / retinoid (Oral tetracycline + BPO / adapalene)
- 1st line = tetracyclines (Lymecycline, doxycycline)
- 2nd line = macrolides (Erythromycin)
• COCP + BPO / retinoid (COCP + BPO / adapalene)
What is the medication management of severe acne vulgaris?
Dermatologist referral:
• Oral isotretinoin (Roaccutane)
Once cleared, maintain with topical retinoids or azelaic acid (20%)
What is roaccutaine
Synthetic form of vitamin A:
- Very teratogenic – must be on 2 forms of contraception
- SE: dryness, pruritis, conjunctivitis, muscle aches, teratogenic, deranged LFTs
- Associated with low mood and suicidal ideation
- Prescription –> aim for an accumulated dose = body weight x 100
• I.E. 80kg = 8,000mg accumulated dose
When do you refer acne vulgaris to a dermatologist?
- Nodulocystic acne / scarring
- Severe form (acne conglobata, acne fulminans)
- Severe psychological distress
- Diagnostic uncertainty
- Failing to respond to medications
What si the support given to acne vulgaris patients?
- NHS Choices leaflet on Acne
- British Association of Dermatologist
What is ezcema?
Eczema = chronic, relapsing, inflammatory skin condition characterised by an itchy red rash, commonly on flexures
o Triggers: irritants, contact allergens, extremes of temperature (worse in winter), abrasive fabrics, sweating, dietary factors (10%), inhaled allergens (pollens, dust mite)
o Classified as mild, moderate, severe and infected
What are the signs and symptoms of ezcema?
o Infant – face and trunk
o Older child – extensors of limbs (Many children grow out of eczema)
o Young adult – localises to flexures
What is mild ezcema?
- Areas of dry skin, infrequent itching (± small areas of redness)
- Little impact on everyday activities, sleep and psychosocial wellbeing
What is moderate ezcema?
- Areas of dry skin, frequent itching, redness (± excoriation and localised skin thickening)
- Moderate impact on everyday activities and psychosocial wellbeing, frequently disturbed sleep
What is severe ezcema?
- Widespread areas of dry skin, incessant itching, redness (± excoriation, extensive skin thickening, bleeding, oozing, cracking and alteration of pigmentation)
- Severe limitation of everyday activities and psychosocial functioning, nightly loss of sleep
What are the investigatiosn for ezcema?
o Consider food allergies –> blood or skin prick testing
o Consider contact dermatitis –> patch testing
What is the mild management of ezcema?
- Emollients
- Mild-potency topical corticosteroids
What is the manahedmenet of moderate ezcema?
- Emollients
- Moderate-potency topical corticosteroids (step-down approach)
- Topical calcineurin inhibitors
- Bandages
What is the manahedmenet of severe ezcema?
- Emollients
- Potent topical corticosteroids
- Systemic therapy
- Phototherapy
- Topical calcineurin inhibitors
- Bandages
What is the management of infected ezcema?
- Skin swab and culture
- Oral flucloxacillin (erythromycin if pen-allergic)
What is the management of ezxema herpeticum?
- Oral aciclovir
- If around eyes, refer to ophthalmologist (same day)
- Health education (emergency = rapidly worsening eczema, clustered blisters, punched-out erosions)
What are the emollients used in ezcema?
Emollients (e.g. 50/50, Dermol, e45 cream):
- Minor differences between types (i.e. 50/50 very greasy, Dermol contains chlorhexidine, etc.)
• Cream = some water (thin, contains preservative)
• Ointment = no water (thick, no preservative)
- Apply to whole body and wait 30 minutes before applying steroid creams
- Apply with Finger-Tip Units (FTUs) / 500mg – reference: 1 FTU = palm of hand, elbows or knees
What are the topical steroids used in ezcema?
Topical corticosteroids:
- OD or BD, apply only to active areas
- Steroid ladder – Help (hydrocortisone) Every (Eumovate) Busy (Betnovate) Dermatologist (Dermovate)
- SE: infections, thin skin, stretch marks, systemic side effects
What topical calcineruin inhibitors are used in ezcema?
Topical calcineurin inhibitors:
- Topical to active eczema areas
- Do not use under occlusive bandages
What bandages used in ezcema?
- Used with emollients for areas of chronic lichenified skin
- Can be used for short-term flares (7-14 days)
What are the antihistamines in ezcema?
- Severe itching / urticaria –> 1-month trial of a non-sedating antihistamine (e.g. fexofenadine, cetirizine)
- Acute flare-up with sleep disturbance –> 7-14-day trial of a sedating antihistamine (e.g. promethazine)
What are the indications of referral in ezcema treatment?
o Immediate –> eczema herpeticum
o Urgent referral (<2 weeks) –> severe atopic eczema not responded to optimum therapy within 1-week
o Urgent referral (<2 weeks) –> treatment to bacterially infected eczema has failed
o Non-urgent referral (>2 weeks) –> diagnosis uncertain, atopic eczema on face not responding, contact allergic dermatitis is suspected, causing significant social and psychological problems or severe recurrent infections
What are vascular malformations?
Present at birth
Naevus flammeus = Port-wine stain in distribution of trigeminal nerve:
o Sturge-Weber syndrome / Encephalotrigeminal Angiomatosis:
- Flat patch –> bumpy
- Aetiology: GNAQ mutation –> intracranial lesions
- Epilepsy, contralateral hemiplegia, intellectual disability
o Parkes Weber syndrome
o Kippel-Trénaunay syndrome
o Proteus syndrome
Naevus simplex / Salmon patches / Stalk Bites / Angel’s Kiss:
o Pink or red patch at birth
o Goes redder when the infant cries
What are the investigations for vascular malformations?
o Clinical diagnosis
o 1st: USS
o 2nd: MRI (Sturge-Weber)
What is the management of vascular malformations?
Conservative
What is an infantile haemangioma?
Develops a few days/weeks after birth, last around 6-10 months, then shrink
o Capillary haemangioma is present at birth
o RFs: LBW, prematurity, female, multiple gestation
Whata re the signs and symptoms of infantile haemangioma?
o Superficial (50-60%) – bright red area of skin and feels warm
- Not present at birth (appear in few days/weeks - rapidly grow –> regress over 1-2 years)
- Upper eyelids, midforehead, nape of neck
o Deep (15%) – blue in colour, forms a lump
- Not present at birth (only evident after a few weeks)
- May just look like a lump of normal skin
o Mixed – bright red area on blue, forms a lump
What is kasabeach-merritt?
Kaposiform haemangioendothelioma –> thrombocytopenia –>
- Haemangioma with thrombocytopenia
What is PHACES syndrome?
- Posterior fossa malformations
- Haemangioma
- Arterial anomalies
- Cardiac anomalies / Co-arctation of the aorta
- Eye anomalies
- Sternal anomalies
What is LUMBAR syndrome?
- Lower body or lumbosacral haemangioma
- Urogenital anomalies or ulceration
- Myelopathy
- Bony deformities
- Anorectal and arterial anomalies
- Renal anomalies
What are the investigations for infantile haemangiomas?
o Clinical diagnosis o USS --> MRI / MRA (gold-standard to diagnose complex vascular tumours) if the lesions are… - Deep - Single large capillary haemangioma - Multiple haemangiomas - Near the eye
What is the management of infantile haemangiomas?
o Conservative (easy bleeding, try not to catch it (apply pressure if bleeding); use Vaseline and avoid irritants)
- Change from bright red to grey-purple, flatten and become less firm and more fatty
- 50% involute by 5 years, 70% involute by 7 years and 90% involute by 9 years
- Medical photography + review in 3 months
o Topical or intra-lesional steroid
o Topical timolol –> small superficial infantile haemangiomas; i.e. if near…
- Eyes - Lips (often becomes ulcerated)
- Nappy area - Nasal tip, ear
o Oral propranolol –> larger lesions
o Complication = ulceration (10-20%) –> antibiotics and analgesia
What are worrying distributions that need referral in infantile haemangiomas?
- Function threatening (periocular, nasal tip, ear, lips, genetalia)
- Large facial, anogenital, perineal
- Lumbosacral
- Ulcerating
- “Beard” distribution (laryngeal haemangioma) –> ENT referral
- Multiple lesions (>5 –> USS liver)
What is a congenital haemangioma?
Always present at birth (much rarer than infantile haemangiomas)
o M = F
o Rare
What are the 3 types of congenital haemangioma?
o Rapidly involuting congenital haemangiomas (RICH)
- Maximum size by birth –> involute by 12-18 months
o Non-involuting congenital haemangiomas (NICH)
- Continue to grow as baby grows
- Do not shrink after birth (unlike infantile haemangiomas and RICH)
o Partially involuting congenital haemangiomas (PICH)
- Combination RICH and NICH types
What are the signs and symptoms of congenital haemangioma?
o Present at birth
o Raised or flat, pink or purple
o Transient thrombocytopenia
What are the investigations of congenital haemangioma?
o USS
o Medical photography
What is the management of congenital haemangioma?
NB. propranolol is not effective:
o Conservative
o Embolisation (if they need to be removed)
What are the complications of congenital haemangioma?
heart failure (if large enough, may generate a high blood flow)
What is erythema toxicum?
Benign skin condition; affects ~50% of new-borns
What are the signs and symptoms of erythema toxicum?
EXCLUDE CONGENTIAL INFECTION:
o Maculo-papular-pustular lesions (last for 1 day at a time)
o Wax and wane over the first few days/weeks of life
o Begins on the face and spreads to the limbs
What is the management of erythema toxicum?
Self-limiting
What is milia?
Milia = white pimples on nose and cheeks, from retention of keratin and sebaceous material of the pilosebaceous follicle
What are the signs and symptoms of milia?
Neonatal –> affects up to 50% of new-borns
- Often nose, but also mouth, palate, scalp, face, upper trunk
- Heal spontaneously within a few weeks
Primary:
- Around eyelids, cheeks, forehead, genitalia
- Should clear in a few weeks
- Associated with trauma
What is the management of milia?
Self-limiting
What is molluscum contagiosum?
- Common viral infection (molluscum contagiosum / pox virus); 2-5yo
- Skin-to-skin transmission but not very contagious (wear long-sleeve tops and don’t share towels)
What are the signs and symptoms of molluscum contagiosum?
o ≥1 small pink skin-coloured or pearly papules, ulcerated/umbilicated
o Painless but may be itchy occasionally
o Commonly found on the chest, abdomen, back, armpits, groin, back of knees
What is the management of molluscum contagiosum?
Acute = self-resolving (6-9 months; but normally within the year)
- No need to avoid school
- Long-sleeve clothes
Chronic (>2 years) = cryotherapy
What are the signs and symptoms of mongolian blue spot?
o Blue/black macular discolouration at base of the spine and on buttocks
o Afro-Caribbean or Asian infant
What is the management of mongolian blue spot?
self-limiting – they fade slowly over the first few years (by 4yo)
What is impetigo?
Common skin infection – Staphylococcus aureus, Streptococcus pneumonia
What are the signs and symptoms of impetigo?
Golden-yellow, crusted appearance
What is the management of impetigo?
Explain hygiene measures for all forms:
Localised, non-bullous: - Topical H2O2 1% cream –> 2nd line: topical fusidic acid (2%) antibiotic
Widespread, non-bullous:
- Oral flucloxacillin OR topical fusidic acid (2%) antibiotic
Bullous, systemically unwell:
- Oral flucloxacillin
School exclusion (until lesions crusted over or 48 hours after ABx started)
What is tinea?
Fungal infection – dermatophyte fungi invade dead keratinous structures
- Trichophytum rubrum
What are the signs and symptoms of tinea?
o Ringed appearance ± kerion (severe inflamed ringworm patch), red or silver rash
o Tinea capitis – scalp
o Tinea pedis – feet
What is the management of tinea?
Tinea Faciei, Tinea Corporis, Tinea Cruris or Tinea Pedis:
- Mild –> topical antifungals (e.g. terbinafine cream, clotrimazole)
- Moderate –> hydrocortisone 1% cream
- Severe –> oral antifungals (1st line: oral terbinafine; 2nd line: oral itraconazole)
Tinea Capitis:
- oral antifungal (e.g. griseofulvin or terbinafine)
What is the advice you give for tinea?
Advice (very contagious so take steps to prevent spread):
- Wear loose-fitting cotton clothing
- Wash affected areas of skin daily
- Dry thoroughly after washing
- Avoid scratching
- Do not share towels
- Wash clothes and bed lined frequently
- No need for school exclusion
What is the management of scabies?
permethrin
What is seborrhoeic dermatitis?
Dandruff; presents in first 6 weeks, resolves over following weeks
What are the signs and symptoms of seborrhoeic dermatitis?
Flaking skin on scalp (infants), erythematous, yellow, crusty, adherent layer (cradle cap) that can spread to behind ears, face, flexures → non-itchy, associated with Malassezia yeasts
What are the investigations of seborrhoeic dermatitis?
I.E. Pityriasis versicolor causes by malassezia furfur
o Clinical diagnosis
o Skin scrapings for Malassezia, culture of swabs
What is the management of seborrhoeic dermatitis?
Spontaneous resolution (by 8m)
1st line if scalp affected –> regular washing with baby shampoo –> gentle brushing to remove scales
- Soaking crusts overnight with white petroleum jelly or slightly warmed vegetable/olive oil, and shampooing in the morning / soften scales with baby oil, gentle brush, wash off with baby shampoo
- Emulsifying ointment can be used if these measures don’t work
- If other areas of skin affected, bathe infant ≥1/day using emollient as a soap substitute
2nd line if scalp affected –> topical imidazole cream (e.g. clotrimazole, econazole, miconazole)
- BD or TDS (depending on preparation) until symptoms disappear
- Consider specialist advice if it lasts >4 weeks
3rd line if severe –> mild topical steroids (e.g. 1% hydrocortisone)
What is nappy rash?
Most commonly a form of contact dermatitis
o Babies 3-15 months of age
o Follows damage to normal skin barrier – urine, faeces, friction, pre-existing conditions, damp predisposition
What are the signs and symptoms of nappy rash?
Erythematous macules and papules in genital area
Irritant – well-demarcated variety of erythema, oedema, dryness, scaling
- Sparing skin folds (just skin in contact with nappy is erythematous)
Candida albicans – erythematous papules and plaques with small satellite spots or superficial pustules
- Sharply demarcated redness
- Check for oral candidiasis
Seborrheic – cradle cap and bilateral salmon pink patches, desquamating flakes, skin folds
What is the health education management of nappy rash?
Health education (refer to NHS choices nappy rash leaflet/website):
- Nappy type –> high-absorbency nappies that fit properly, disposable preferable to towel nappies
- Leave nappy off as much as possible to help skin drying
- Clean/change every 3-4 hours / ASAP after soiling
• Use water, or fragrance-free or alcohol-free baby wipes
• Dry gently after cleaning
• Bath the child daily (do NOT use soap, bubble bath, lotions or talcum powder)
What is the mild management of nappy rash?
If mild erythema and the child is asymptomatic:
- Advise on the use of barrier preparation (available OTC) – applied thinly at each change
- Zinc and Castor oil ointment BP, Metanium ointment, white soft paraffin BP ointment
What is the moderate management of nappy rash?
If moderate erythema and discomfort:
- If >1-month-old = hydrocortisone 1% cream OD (max 7 days)
What is the management of severe nappy rash?
If rash persists and CANDIDAL INFECTION is suspected or confirmed on swab
- Advise against the use of barrier protection
- Prescribe topical imidazole cream (e.g. clotrimazole, econazole, miconazole)
If rash persists or BACTERIAL INFECTION is suspected or confirmed on swab
- Prescribe oral flucloxacillin (clarithromycin if pen-allergic) for 7 days
- Arrange to review the child
What are the common neck lumps in children?
Most commonly lymphadenitis (background of an inflammatory/infective process)
o Resource here
o Lumps <1cm are generally normal in children
What are the signs and symptoms of neck lumps?
Red flags:
- Sepsis/unwell
- Stridor
- Poor feeding
- Change in voice
- Rapid progression
Whata re the most common neck lumps?
Most common lumps:
Thyroglossal cysts:
• Most common midline congenital mass
• Failure of thyroglossal duct to involute
• S/S: midline mass that moves with swallowing
Branchial cleft abnormality:
• Most common lateral congenital mass
• Failure of pharyngeal clefts to involute
• S/S: cyst, sinus or fistula; may be infected
Lymphadenitis:
• Most common neck lump in children
• S/S: transiently enlarged, tender lymph nodes
• There may often be multiple small tender bumps
What are the investigations for neck lumps?
o Clinical examination
o Systemic symptoms (FBC and blood film)
o Thyroglossal cyst (USS)
o Atypical lymphadenopathy (TB PPD test; bartonella henselae, EBV, CMV, HIV, toxoplasmosis serology)
What is the management of neck lumps?
Lymphadenitis –> self-limiting (6 weeks) –> secondary investigations for atypical lymphadenitis
- ABx if secondary bacterial infection
Thyroglossal cyst / Branchial cleft abnormality:
- Asymptomatic –> conservative management
- Symptomatic –> Sistrunk’s procedure (surgical removal)
What is congenital adrenal hyperplasia?
Most common non-iatrogenic cause of low cortisol and MR secretion
o Multiple forms of CAH – 90% are a deficiency of 21-hydroxylase enzyme
o Autosomal recessive
What are the signs and symptoms of congenital adrenal hyperplasia?
o Virilisation of external genetalia
- Female infants –> clitoromegaly, fusion of labia
- Male infants –> enlarged penis and scrotum pigmented [much harder to see]
o Salt-losing crisis [often the 1st sign in boys]
- Week 1 to 3 of age – more common in boys (in girls, virilisation is noted early and CAH treated)
- Vomiting, WL, hypotonia, circulatory collapse
o Tall stature
- Occurs in 20% of “non-salt losers”
o Excess androgens –> muscular build, adult body odour, pubic hair, acne
What are the investigations for CAH?
o Initial (ambiguous genetalia, no external gonads) –> USS [examine internal genetalia]
o Confirmatory (CAH) –> raised plasma 17a-hydroxyprogesterone (cannot do in a newborn)
- The mother’s levels will often obscure the reading in a newborn
- An USS for internal genetalia may often be the best first investigation of a newborn
o Biochemical abnormalities [FBC]:
- Salt-losing crisis –> low sodium, high potassium
- Metabolic acidosis –> low bicarbonate
- Hypoglycaemia –> low glucose from low cortisol
o Other confirming tests:
- Karyotyping
- High urea (dehydrated)
- Beta-hCG
What is the management of CAH?
o Corrective surgery – for affected females on the external genetalia
- Girls are raised as girls (they have a uterus and ovaries)
- Definitive surgery often delayed until early puberty
o Long-term management:
- Life-long glucocorticoids (hydrocortisone) to suppress ACTH levels (and hence testosterone)
- Mineralocorticoids (fludrocortisone) if there is salt loss
- Monitoring growth, skeletal maturity, plasma androgens and 17a-hydroxyprogesterone levels
- Additional hormone replacement at times of illness or surgery [i.e. double hydrocortisone]
o Salt-losing crisis –> IV hydrocortisone, IV saline, IV dextrose
What are the chances of an identical twin from developing diabetes?
An identical twin of a diabetic has a 30-40% chance of developing the disease
What are the different types of diabetes?
o Type 1 → 96% of DM children – destruction of pancreatic β1 cells
o Type 2 → insulin resistance, usually in older children and obesity related
o Type 3 → other – genetic defects, infections, drugs, pancreatic exocrine deficiency (CF), endocrine disease
o Type 4 → GDM
What are the risk factors of diabetes in a child?
Neonatal hypoglycaemia = jittery and hypotonic baby; RFs:
- IUGR
- Maternal DM
- Premature
- Hypothermia
- Neonatal sepsis
- Inborn errors of metabolism
- Labetalol (pre-eclampsia)
What are the early signs and symptoms of diabetes?
o Early signs – often occur over a few weeks… - Most common ‘classical triad’: • Polydipsia • Polyuria • Weight loss
Less common:
- Candida (and other infections)
- Secondary enuresis
- Skin sepsis
Type-2 specific:
• Acanthosis nigricans (sign of insulin resistance; ‘tanning’ in skin folds i.e. neck and axillae)
• Skin tags
• PCOS
What are the late signs of diabetes/DKA?
- Acetone breath
- Vomiting
- Dehydration
- Abdominal pain
- Kussmaul breathing
- Hypovolaemic shock
- Drowsiness
- Coma and death
What are the signs of hypoglycaemia?
- Sweating
- Pallor
- CNS irritability
What are the investigations for hypoglycaemia?
o Blood glucose o Other (growth hormone, IGF-1, cortisol, insulin, C-peptide, fatty acids, ketones, etc.)
What are the investigations for diabetes?
OGTT = 75g oral glucose –> 2 hours later measure blood glucose
o Symptoms + Fasting ≥7.0mmol/L OR Random ≥11.1mmol/L
o No symptoms + TWO of… Fasting ≥7.0mmol/L AND/OR Random ≥11.1mmol/L
o No symptoms + OGTT ≥11.1mmol>L
o HbA1c >6.5% / >48mmol/mol
o Whole blood fasting plasma glucose ≥6.1mmol/L
o Impaired Glucose Tolerance (IGT):
- Fasting = <7.0 mmol/L
- OGTT = 7.8-11.1 mmol/L
o Impaired Fasting Glucose (IFG) – only if fasted:
- Fasting = 6.1-7.0 mmol/L
What is the management of diabetes type 1?
3 types of insulin therapy:
- 1st line –> Multiple Daily Injection Basal-Bolus: injections of short-acting insulin before meals, with 1 or more separate daily injections of intermediate acting insulin or long-acting insulin analogue
- 2nd line –> Continuous SC Insulin Infusion (insulin pump): programmable pump / insulin storage device that gives regular or continuous amounts of insulin (usually rapid- acting insulin or short-acting insulin)
• If appropriate; often child needs to be older and in control of the diabetes - One, Two or Three Insulin Injections Per Day: injections of short-acting insulin or rapid-acting insulin analogue mixed with intermediate-acting insulin
What is the educational programme for children and parents with type 1 diabetes?
Basic pathophysiology of diabetes:
• Body attacking its own pancreas
• Depleted ability to produce insulin
- Insulin injection method and sites:
• Types of insulin:
• Long acting –> Glargine, Determir
• Short acting –> Lispro, Glulisine, Aspart
• Sites: antero-lateral thigh, buttocks, abdomen
• Rotate sites frequently to avoid lipohypertrophy
• Method: gently pinch up skin and inject at a 45-degree angle (avoid IM)
• Not too deep (IM) and not too shallow - Blood glucose prick monitoring (glucose, ketones):
• ≥5 capillary blood glucose a day (fasting = 4-7mmol/L; after meals = 5-9; driving = >5)
• Ongoing real-time continuous monitoring with alarms for children with:
• Frequent severe hypoglycaemia
• Impaired hypoglycaemic awareness
• Inability to recognise/relay symptoms of hypoglycaemia (i.e. cognitive disability)
• HbA1c checked ≥4x per year (last 6-12 weeks overview) - Healthy diet and exercise:
• Carbohydrate counting education from diagnosis and to family members (DAFNE)
• 5 fruit and vegetables a day
• Regular exercise (with insulin adjustment)
- ‘Sick-day rules’ during illness to prevent DKA: • Explain symptoms of DKA: • Nausea/vomiting • Abdominal pain • Hyperventilation • Dehydration • Reduced consciousness • Check blood ketones when ill or hyperglycaemic
- Recognition and treatment of hypoglycaemia:
• Can be very individual (i.e. feeling ‘wobbly’, feeling sick)
• Can develop/vary with age
What is the help and advice given to a child with type 1 diabetes?
Help and advice:
• Offer 24hr helplines and voluntary groups (‘Diabetes UK’, DAFNE)
• Access to mental health services (e.g. psychologist often part of the MDT)
• School is often very involved (nurse aware)
What is the annual monitoring of a child with diabetes type 1?
Annual monitoring from 12yo for diabetic retinopathy, nephropathy and hypertension
• Macrovascular complications –> HTN, CHD, CVD
• Microvascular complications –> retinopathy, nephropathy, neuropathy
Who is involved in the MDT for diabetic kids?
MDT = paediatrician, PDSN (specialist nurse), psychologist, school, (GP)
What is the management of DKA?
Hyperglycaemia, ketonuria, acidosis (1-year incidence of 3.6% in those with T1DM):
o Causes – anything to raise the bodies need for insulin (thus the lack of insulin can –> DKA)
- Discontinuation / not enough insulin (i.e. anorexic T1DM that want to lose weight)
- Drugs – steroids, thiazides, SGLT-2 inhibitors
- Physiological stress – pregnancy, trauma, surgery
o Investigate:
- Blood gases, blood glucose
- Plasma osmolarity – will be hyper-osmolar (like in HONK/HHS; but is much higher in HHS) >29
o Management = fluid replacement –> IV insulin –> tx underlying cause
- Lower rate fluid replacement than usual due to risk of cerebral oedema
What is the management of hypoglycaemia?
Treating this depends upon the patient’s consciousness:
o I.E. from too much insulin (± skipped meal)
(N.B. care with IV dextrose as hypertonic)
o Oral glucose (e.g. Coca-Cola –> banana) –> glucose gel to gums / IM glucagon –> IV glucose (e.g. dextrose)
What are social factors that affect diabetes in teenagers?
Teenagers are more resistant to treatment as they find out they don’t have to always obey parents and be okay
Interference:
- Biological factors:
• Insulin resistance 2nd to growth and sex hormone secretion
• Growth and pubertal delay if diabetes control is poor
- Psychological factors:
• Reduced self-esteem (i.e. impaired body image)
- Social factors: • Different from peer group • Hypoglycaemia (emphasise differences) • Increased risk from alcohol, smoking, drugs • Vocation plans (can’t be a pilot) • Separation from parents more complex
What is the transition vs transference of care in child with chronic health conditions?
o Transitional care = joined adult and paediatric care (16-22yo) clinics –> much better care!
o Transference = immediate transfer of care to the adult team
What is the management of HHS/HONK in type 2 diabetes?
Symptoms:
- Weakness, leg cramps and visual disturbances
- N&V (less than in DKA)
- MASSIVE DEHYDRATION (e.g. dry membranes, confusion & lethargy)
- Focal neurological symptoms (seizures in up to 25% –> coma in ~10%)
Investigations:
- Bloods – no hyperketonaemia, no acidosis
- Serum osmolarity will be >320mOsmol/kg (normal 275-295)
Same causes as DKA
What is the management of type 2 diabetes?
(1) Diet & exercise
(2) Oral monotherapy – metformin
- 1st line = Biguanide / Metformin (sensitises cells to insulin)
(3) Oral combination
- 2nd line = sulphonylurea (increases insulin secretion of cells) – for non-obese T2DM
• Glibenclamide Chlorpropamide Tolbutamide
- 3rd line = a-glucosidase inhibitor (inhibits carbohydrase) – for post-prandial hyperglycaemia
• Acarbose
(4) Oral + injectable incretin mimetics
(5) Oral + insulin
(6) Insulin
What is the definition of DKA?
Diagnosis = “D” diabetes (BM > 11.1mmol/L), “K” ketones (>3) and “A” acidosis (pH <7.3):
DKA definition:
- Metabolic acidosis (acidosis + bicarbonate of <15mmol/L);
OR
- Metabolic acidosis (pH <7.3 + ketones >3.0mmol/L)
What is the classification of different levels of DKA?
Classify as mild, moderate and severe –> allow you to classify their dehydration status:
- Mild DKA: pH <7.3 (5% fluid deficit)
- Moderate DKA: pH <7.2 (7% fluid deficit)
- Severe DKA: pH <7.1
(10% fluid deficit)
What is the emergency treatment of DKA?
o ABCDE
o Emergency fluid resuscitation:
- Shocked –> 20mL/kg bolus (over 15 minutes) –> + 10mL/kg bolus if required (max 40mL/kg)
- Not shocked –> 10mL/kg bolus (over 60 minutes)
o Investigations (i.e. blood glucose, FBC, U&Es, blood gas, ketones) and full clinical assessment (inc. weight, GCS)
What is the fluid management for DKA?
(1) Deficit = ((deficit x weight x 10) – initial bolus if non-shocked) –> replace over 48 hours
- Mild DKA: pH <7.3 (5% fluid deficit)
- Moderate DKA: pH <7.2 (7% fluid deficit)
- Severe DKA: pH <7.1 (10% fluid deficit)
(2) Maintenance requirement/or use the 4-2-1 method…
- First 10kg = 100mL/kg/day
- Next 10kg = +50mL/kg/day
- Every kg above 20kg = +20mL/kg/day
(3) Requirement of fluids – ensure 20mmol of KCl per 500mL saline (i.e. 40mmol per litre):
- Requirement = deficit (- bolus in non-shocked children) + maintenance
(4) Insulin / dextrose therapy after 1-2 hours of IV fluid replacement: Insulin Dose = IV 0.05-0.1 units/kg/hour
- Start dextrose when <14mmol/L; change to SC insulin and then oral fluids if child starts to resolve
- Monitor with ECG to identify hypokalaemia (ST depression, prominent U waves, flattened P waves)
What is the monitoring of DKA?
Monitoring during therapy – monitor every hour; every 30 minutes if severe DKA or child <2yo:
o Hourly –> CBG, vital signs, fluid balance (input/output), GCS, ± ECG
o At 2 hours, every 4 hours –> glucose, U&Es, blood gas, beta-hydroxybutyrate
What are the complications of DKA?
o Cerebral Oedema (~25% mortality):
- S/S: headache, agitation or irritability, Cushing’s triad of ICP (bradycardia, hypertension, irregular breathing), other high ICP signs (low GCS, oculomotor palsies, pupillary inequality or dilatation)
- Mx: mannitol or hypertonic saline; restrict fluid intake
o Hypokalaemia (<3mmol/L): - Mx: stop insulin temporarily
o Aspiration pneumonia
o Inadequate resuscitation
What is delayed puberty?
Most common cause in boys due to CDGP (Constitutional Delay of Growth and Puberty)
Delayed puberty = absence of pubertal development by…
o Males, no testicular development (volume ≤4mL) by age 14 years
o Females, no breast development by age 13 years OR Females, no periods by age 15 years
What is growth faltering and when do you refer?
Growth faltering and referral:
o If ≥75th centile, only refer once the centile drops ≥3
o If 25th – 75th centile, only refer once centile drops by ≥2
o If <25th centile, refer once centile drops by ≥1
What is functional delayed puberty?
Functional (most commonly):
- Constitutional Delay of Growth and Puberty (GDGP; commonest in boys)
• S/S: low bone age, no puberty signs, no organic causes
• FHx; M > F – usually FHx of same delay in parent of same sex
- Chronic disease, malnutrition
- Psychiatric – excessive exercise, depression, anorexia nervosa
What is hypogonadotrophic delayed puberty?
Hypogonadotrophic (low LH and FSH) hypogonadism:
- Hypothalamo-pituitary disorders – panhypopituitarism, intercranial tumours
- Kallmann’s syndrome (LHRH deficiency and anosmia), Prader-Willi syndrome
- Hypothyroidism (acquired)
What is hyperganotrophic delayed puberty?
Hypergonadotrophic (high LH and FSH) hypogonadism:
- Congenital – cryptorchidism, Klienfelter’s syndrome (47 XXY), Turner’s syndrome (45 XO)
- Acquired – testicular torsion, chemotherapy, infection, trauma, autoimmune
What are the investigations of delayed puberty?
Initial examination:
- Charting (Height and weight plots, mid-parental height) and note dysmorphic features
- Prader’s orchidometer (see picture) for boys; Tanner’s staging for girls
Bloods:
- Gonadotrophin-dependant vs independent –> LH and FSH levels (GnRH stimulation given if <12yo)
- TSH, prolactin, testosterone
Imaging –> bone age (from wrist X-ray), MRI brain
Karyotyping
What is the management of delayed puberty?
CDGP [most do not need treatment; fantastic prognosis]:
- 1st line: reassure and offer observation
- 2nd line: short course sex hormone therapy:
• Boys –> short course IM testosterone (every 6 weeks for 6 months)
• Girls –> transdermal oestrogen (6 months) –> cyclical progesterone once established
o Primary testicular / ovarian failure – pubertal induction –> regular hormone replacement:
- Boys: regular testosterone injections
- Girls: oestrogen replacement (gradual to avoid premature fusion of epiphyses / overdeveloped breasts)
o Address psychosocial concerns
What is early normal puberty and precious puberty?
Early normal puberty and precocious puberty are distinct conditions:
o Early normal puberty (Girls Order of onset: “Boobs, Pubes, Grow, Flow”):
- Girls = 8 < age ≤ 10
- Boys = 9 < age ≤ 12
o Precocious puberty (Girls “8” looks like boobs):
- Girls = age <8yo
- Boys = age <9yo
What is puberty defined by in boys and girls?
Girls = breast development (Tanner’s 5 breast development stages)
- Stage 1 = flat
- Stage 2 = buds appear, breast and nipple raised, fat forms, areola enlarges
- Stage 3 = breasts grow larger (conical –> rounder shape)
- Stage 4 = nipple and areola raise above mound; menstruation within 2 years of this stage
- Stage 5 = mature adult breast is rounded, and only nipple is raised
Boys = testicular development >4mL (Prader’s orchidometer)
What is ganototrophin-dependant precocious puberty?
- Premature activation of HPG axis
- Idiopathic (no cause found in 80% girls and 40% boys)
- CNS abnormalities (tumours, trauma, central congenital disorders)
What is gonatrophin-independant precocious puberty?
20% of PP:
- Early puberty from increased gonadal activation independent of HPG
- Ovarian – follicular cyst, granulosa cell tumour, Leydig cell tumour, gonadoblastoma
- Testicular – Leydig cell tumour, testotoxicosis (defective LH-R function; a familial GIPP)
- Adrenal – CAH, Cushing’s syndrome
- Tumours – b-hCG-secreting tumour of liver, tumours of ovary, testes, adrenals
- McCune-Albright syndrome – a multiple endocrinopathy of thyrotoxicosis, Cushing’s, acromegaly
• S/S: polyostotic fibrous dysplasia, café-au-lait spots, ovarian cysts
- Exogenous hormones – COCP, testosterone gels
What is benign isolated precocious puberty?
These are all generally self-limiting:
- Premature thelarche [isolated breast development before 8yo; normally between 6m and 2yo]:
• May occur in those <3yo –> spontaneously regresses (from maternal oestrogen early on)
• Features of premature thelarche:
• Absence of other pubertal signs/ Normal growth/ Normal USS of uterus / Rarely progress past Tanner stage 3 - Premature pubarche/adrenarche [isolated pubic hair development before 8yo (girls) or 9yo (boys)]:
• Due to early adrenal androgen secretion in middle childhood
• More common in Asian or Afro-Caribbean - Premature menarche [isolated vaginal bleeding before 8yo]
What are the investigations for precocious puberty?
Females [normally not of concern] → pelvic USS
- Premature onset of normal puberty –> multicystic ovaries and enlarging uterus
- Rule out gonadal tumour, cysts
Males [organic cause] → examination of testes, MRI (intracranial tumours), GnRH-stimulated LH/FSH
- Most commonly has an organic cause
• N.B. if LH and FSH are normal, any virilisation has a primary cause (i.e. adrenal hyperplasia)
• CAH –> initial growth spurt (tallest in class) –> premature bone fusion (smallest in class)
- Prader’s orchidometer measurement and examination of testes:
• Bilateral enlargement → GDPP (intercranial lesion; i.e. optic glioma in NF1)
• Unilateral enlargement→ gonadal tumour
• Small testes → tumour or CAH (adrenal cause)
General investigations:
- GOLD-STANDARD: GnRH stimulation test – suppressed LH/FSH if G-independent
• FSH, LH low = GIPP –> other tests…
• FSH, LH high = GDPP –> other tests…
- Wrist XR (non-dominant) for skeletal age
- General hormone profile –> basal LH/FSH, serum testosterone and oestrogen
- Urinary 17-OH progesterone if CAH suspected
What is the management of precocious puberty?
REFER TO PAEDIATRIC ENDOCRINOLOGIST:
o If GDPP with no underlying pathology, often no treatment is required
o Gonadotrophin-Dependent Precocious Puberty (exclude neoplasms; n.b. 90% females no identifiable cause)
- GnRH agonist (e.g. leuprolide) + GH therapy:
• GnRH agonists overstimulate pituitary –> desensitisation –> arrest puberty
• GH therapy used as GnRH agonists can stunt growth
- GnRH agonist + cryproterone (anti-androgen)
• Supresses peripheral androgen action
o Gonadotrophin-Independent Precocious Puberty (exclude neoplasms):
- McCune Albright or Testotoxicosis: 1st: ketoconazole or cyproterone; 2nd: aromatase inhibitors
- CAH: hydrocortisone + GnRH agonist
What is skeletal dysplasia?
> 350 disorders leading to various degrees of dwarfism; most commonly due to…
- Achondroplasia (S/S: arms and legs short, normal length thorax)
- Hypochondroplasia (S/S: small stature, micromelia (small extremities), large head
What is dwarfism?
height less than 2 S.D. below the mean
What is the aetiology of skeletal dysplasia?
FGFR3 gene:
- Defects –> achondroplasia, hypochondroplasia
- Autosomal dominant defects in Fibroblast Growth Factor Receptor 3 (FGFR3) gene
- FGFR3 gene causes severe bone shortening through constitutively active receptors
SHOX (Short stature Homeobox) gene:
- Defects –> Turner’s (XO) = 1 less SHOX; Klienfelter’s (XXXY) tall stature from >2 SHOX genes
- X-linked; accounts for most cases of extreme short stature
- Idiopathic short stature thought to be due to polymorphisms in this gene
- RF: advancing parental age at time of conception
What is osteogenesis inperfecta?
- S/S: blue sclera, short stature, loose joints, hearing loss, breathing problems
- Types = 7 forms (type 1 is the most common = abnormal pro-alpha 1 or 2 collagen polypeptides)
What is achondroplasia?
Most common type of skeletal dysplasia:
- Autosomal dominant, but 70% are sporadic mutations in fibroblast growth factor receptor 3 – FGFR3
What are the signs and symptoms of achondroplasia?
Signs & symptoms:
- Short stature, shortening of limbs, ± hydrocephalus
- Large head, frontal bossing
- Depression of nasal bridge
- Short, broad hands
- Marked lumbar lordosis
- ‘Trident Hands’
What are the investigations of achondroplasia?
- Prenatal scans (not apparent until more than 22w GA so may be missed)
- Clinical diagnosis (and XR findings)
• Metaphyseal irregularity (inverted V metaphysis = ‘chevron deformity’
• Flaring in long bones, late-appearing irregular epiphyses - Molecular analysis confirmation
What is the management of achondroplasia?
- Condition specific centile charts (final height 80-150cm), prone to excess weight gain
- Regular follow-up (complications)
• Gross motor skill delay
• Kyphosis
• Early osteoarthritis
• Risks from hydrocephalus
• Obesity
• ENT issues
What do you need to rule out in a young girl with isolated short stature?
Must exclude Turners syndrome (karyotype)
What are the causes of congenital hypothyroidism?
Lack of thyroid hormones from birth:
- Associated with irreversible neurological problems and poor growth if untreated
Causes:
- Thyroid gland defects (75%) – missing, ectopic or poorly developed thyroid, not inherited
- Disorder of thyroid hormone metabolism (10%) – TSH unresponsive / defects in TG structure, inherited
- Hypothalamic or pituitary dysfunction (5%) – tumours, ischemic damage, congenital defects
- Transient hypothyroidism (10%) – maternal medication (carbimazole), maternal ABs (i.e. Hashimoto’s)
What are the signs and symptoms of congenital hypothyroid?
- Feeding difficulties, lethargy, constipation
- Large fontanelles, myxoedema, nasal obstruction, low temperature, jaundice, hypotonia, pleural effusion, short stature, oedema, ± goitre ± congenital defects
Unique symptoms:
- coarse features,
- macroglossia,
- umbilical hernia
What are the investigations for congenital hypothyroid?
- High TSH and low T4
- Measure thyroid autoantibodies ± US or radionucleotide scan
What is the management for congenital hypothyroidism?
Early detection + replacement:
- Thyroxine hormone replaced with levothyroxine OD, titrate dose to TFTs + regular monitoring
- Monitor growth, milestones, development
What is primary hypothyroidism and the causes?
Acquired:
- Most common cause of acquired childhood hypothyroidism = Hashimoto’s autoimmune thyroiditis
- More common in girls
- RFs: Down’s syndrome, Turner’s syndrome
What are the signs and symptoms of primary hypothyroid?
- Growth failure
- Excess weight gain
- Short stature
What is the management of primary hypothyroidism?
if treated, catch-up growth can rapidly occur
What can cause hyperthyroidism in a child?
If mother has Grave’s disease, 1-2% of new-borns are hyperthyroid – due to circulating TSHr-AB which can cross the placenta, bind to TSHr and stimulate foetal thyroxine production
What are the signs and symptoms of hyperthyroidism?
- Foetus = high CTG trace and foetal goitre on USS
- Neonate (<2w) = irritability, WL, tachycardia, heart failure, diarrhoea, exophthalmos
What is the management of hyperthyroid?
Medical management – 2 years:
- Carbimazole or propylthiouracil
• IMPORTANT: both thionamides are associated with a risk of neutropoenia
• Safety net to seek medical attention and a blood count if sore throat or fever on treatment
- Beta-blockers may be considered for symptomatic relief
Other management:
- Radioiodine treatment
- Surgery
How do you classify malnutrition in a child and what are the RFs?
Classification (not on BMI):
- Severely Obese: 99th centile
- Obese: >95th centile
- Overweight: 85-94th centile
RFs: low socioeconomic status, poor diet, genetics, little exercise
What are the investigations for malnutrition?
- Growth chart plotting – BMI percentile chart, adjusted to age and gender
- Nutritional assessment – BMI, triceps skinfold thickness
- Bloods – cholesterol, triglyceride levels, endocrine assays for conditions e.g. adrenal disease
- Urine – glucosuria – T2DM
- Radiology – USS/CT/MRI head for specific conditions or syndromes
What is the management of malnutrition?
Exclude underlying medical condition
Conservative:
- Self-esteem and confidence building – early intervention is key
- Address lifestyle (i.e. food diary and locate where they may eat too much)
Therapeutic aims:
- Reduce excess weight whilst not compromising growth needs
- Dietary counselling with vitamin & micronutrient supplementation
- Behaviour modification (adjust approach dependent on age group)
- Stepwise physical activity programme – increase activity & decrease inactivity
- Adherence to plan needs strong support from child and family
- Fat intake <30% of total calories
Surgical – not recommended in young people
What are the complications of malnutrition?
- Psychosocial – bullying, discrimination, isolation
- Growth – advanced bone age, increased height, early menarche
- Respiratory system – sleep apnoea, Pickwickian syndrome (obesity hyperventilation syndrome)
- Orthopaedic – slipped capital femoral epiphysis, Blount disease (varus bowing of tibia)
- Metabolic syndrome – insulin resistance, atherogenic dyslipidaemia from inc. TG and decreased HDL and HTN
- Hepatobiliary – hepatis steatosis, gallstones
What is rickets?
Impaired skeletal growth through inadequate mineralisation of bone laid down at the epiphyseal growth plates
What is the aetiology of rickets?
Calcium deficiency:
- Dietary
- Malabsorption
Vitamin D defects:
- Deficiency – diet, malabsorption, lack of sunlight, iatrogenic (drug induced – phenytoin therapy)
- Metabolic defect – 1α hydroxylase deficiency, liver disease, renal disease
- Defect in action – HVDRR (Hereditary Vitamin D Receptor Resistant) Rickets
Phosphate deficiency:
- Reduced phosphate intake
- Renal tubular phosphate loss → hypophosphatemic rickets (X-linked, AR or AD)
- Acquired hypophosphatemic rickets –> Fanconi syndrome, renal tubular acidosis, nephrotoxic drugs
What are the signs and symptoms of rickets?
o Growth delay or arrest
o Bone pain, fracture
o Skeletal – swelling wrists/costochondral junctions (rickets rosary), bowed long bones, frontal bossing
What are the investigations for rickets?
X-ray:
- Thickened and widened epiphysis
- Cupping metaphysis
- Bowing diaphysis
Biochemical:
- Reduced Ca2+ and PO42-
- Raised ALP
- Ca2+ x PO42- = <2.4 = diagnostic
What is the management of rickets?
- Prevention – infants receive daily VitD in formula/multivitamin, pregnant/lactating women receive 400iu/day
- Dietary sources – fatty fish (herring, mackerel, salmon, tuna), egg yolk, fortified foods, shop bought milk, cereals
Correct low vitamin D levels with increased intake:
- Calcium supplements
- Oral vitamin D2 (ergocalciferol) or oral vitamin D3 (cholecalciferol)
Periodic measurement of serum calcium, phosphate, ALP, urine calcium: creatinine ratio
Why do children get unique fracture patterns?
Unique fracture patterns in children because of:
- Compressibility of bones
- Increased fibrous strength of periosteum
- Presence of physes (growth plates)
Consider NAI with every child fracture
What are the common neonatal fractures?
Clavicle – from shoulder dystocia –> great prognosis, no specific treatment needed
Humerus or femur – from breech delivery –> heals rapidly with immobilisation
What is the manegement of of fractures in a child?
Pain management: - <16yo –> oral ibuprofen/paracetamol (IV if severe)
- >16yo –> paracetamol ± codeine ± IV morphine
Manipulation and reduction (consider IV local anaesthetic)
- Radial fractures –> elbow plaster cast or k-wire fixation
- Femoral shaft fractures:
• Neonates (0-28 days) – padded splints or Pavlik’s harness
• <18 months – Gallows traction
• 1-6 years – straight leg skin traction
• >4 years – intramedullary nail (+ more support if >11y)
What kind of sedation can you give a child for fracture manipulation?
- 1st line: intranasal/oral midazolam or NO
- 2nd line / severe: intranasal ketamine
What is the Ottawa ankle rule?
“X-ray only indicated if…”
- Pain in malleolar zone and…
• Bone tenderness at the posterior edge or tip of the lateral malleolus (A); OR
• Bone tenderness at the posterior edge or tip of the medial malleolus (B); OR
• An inability to bear weight both immediately and in the emergency department for four steps
- Pain in the mid-foot zone and…
• Bone tenderness at the base of the fifth metatarsal (C); OR
• Bone tenderness at the navicular (D); OR
• An inability to bear weight both immediately and in the emergency department for four steps
What is the ottawa knee rule?
“X-ray only indicated if…” (for age 2yo+)
- Age 55+; OR
- Isolated patellar tenderness; OR
- Cannot flex to 90 degrees; OR
- An inability to bear weight both immediately and in the emergency department for four steps
What is Perthes disease?
Avascular necrosis of femoral epiphysis from an interruption of blood supply (osteochondritis) –> followed by revascularisation and re-ossification over 18-36m –> complication: premature fusion of growth plates ± osteoarthritis
What is the epidemiology of perthes disease?
Epidemiology = mainly boys (5x) 4-8yo
o Bilateral in 10-20%
o Commonly mistaken for transient synovitis
What is the risk factors of Perthes disease?
- Hyperactivity
- Short stature
What are the signs and symptoms of perthes disease?
Insidious presentation, limp, hip/knee pain –> limb shortening
What are the investigations for perthes disease?
X-Ray ± MRI (early stages might not show up, so MRI scan may be needed)
- “Increased density of femoral head”, subsequently becomes…
- “Fragmented and irregular” / “Flattened femoral head”
Roll test – pt. supine, roll affected hip internally and externally guarding or spasm (esp. on internal)
What is the management of perthes disease?
Simple analgesia for pain management
<6 years –> observation (mobilisation and monitoring as healing potentials are good at this age)
- Non-surgical containment using splints
> 6 years –> surgery
What is OSD?
Osteochondritis (inflammation of cartilage or bone) of the patellar tendon insertion at the knee
- May be caused by multiple small avulsion fractures from contractions of quadriceps muscle at their insertion into proximal tibial apophysis (ossification centre) – during growth spurt
- Epidemiology = 4% of 10-15yo physically active
- Bilateral in 25-50%
What are the signs and symptoms of OSD?
- Knee pain after exercise (gradual onset) –> relieved by rest
- Localised tenderness and swelling over tibial tuberosity
- Hamstring tightness
What are the investigations for OSD?
Clinical diagnosis ± XR (may be indicated by Ottawa knee rules):
- XR –> fragmentation of the tibial tubercle + overlying soft tissue swelling
What is the management of OSD?
- Analgesia (paracetamol or NSAIDs), ice packs (intermittent and over the tibial tuberosity, 10-15 minutes, ≤3/day, including after exercise), protective knee pads (may relieve pain when kneeling), stretching
- Reassure –> this will resolve over time but may persist until the end of a growth spurt
What advise do you give for OSD?
Advise stopping/reducing all sporting activity (intensity, frequency or duration)
- Could change type of exercise to limit running and jumping requiring powerful quadriceps contraction
- As symptoms decrease, they can gradually increase their exercise levels
- Introduce low-impact quadriceps exercises (e.g. straight leg raises, cycling or swimming)
What is chondromalacia patellae?
- Anterior knee pain from degeneration of articular cartilage on posterior surface of patella
- Common in young adults from overuse in physical activity
What are the signs and symptoms of chondromalacia patellae?
o Anterior knee pain
o Pain exacerbated by running, climbing stairs or getting up from a chair
o Painless passive movements but repeated extension –> pain and grating sensation
What is the management of chondromalacia patellae?
o Physiotherapy (strengthen the quadriceps)
What is Osteochondritis dissecans?
Reduced blood flow –> cracks form in the articular cartilage and subchondral bone –> avascular necrosis –> fragmentation of bone and cartilage with free movement of fragments –> activity-related joint pain
What are the signs and symptoms of Osteochondritis dissecans?
o Pain after exercise
o Catching, locking and giving way
What is osteomyelitis?
• Infection of the metaphysis of long bones, commonly the distal femur and proximal tibia
- Growth plates in children can prevent further spread into joints
- In infants, before maturation of the growth plates, there can still be possible joint destruction
• Often due to haematogenous spread (can be from direct insult) – commonly, staphylococcus aureus
o Normally <5yo
What are the signs and symptoms of osteomylitis?
Most chronic in onset and less severe than septic arthritis (i.e. over a week rather than a day):
o Fever
o Acute onset limb pain, immobile limb, skin swollen, tender and erythematous
What are the investigations for osteomyelitis?
o Septic screen
o Blood cultures and FBC (↑ WCC, ↑ CRP/ESR)
o Joint aspiration and MC&S
o XR –> MRI of the joint (shows soft tissue)
- USS can be used
- XR often normal until late disease progress (i.e. >7 days –> osteopaenia, bone destruction)
What is the management of acute osteomyelitis?
Acute Osteomyelitis –> high-dose IV empirical –> narrow spectrum antibiotics (usually for 2-4 weeks):
- 1st line: Flucloxacillin
- 2nd line:
• Penicillin-allergic –> Clindamycin
• MRSA –> Vancomycin
- Take blood cultures before starting IV ABx
- IV to oral once CRP returns to normal
- Surgical debridement may be necessary if there is dead bone or a biofilm
What is chronic osteomyelitis?
- Clinical assessment, disease staging (Cierny-Mader classification) and optimisation of comorbidities
- Surgical debridement
- IV antibiotics
- Functional rehabilitation
What is septic arthritis?
Infectious arthritis of the synovial joint (vs osteomyelitis of bone); hip = 75% of cases
o Most common in children <2yo; often presents late
Aetiology:
- Usually haematogenous spread (may occur following puncture around or infected skin lesions)
- RFs: RhA, osteoarthritis, joint prosthesis, crystal arthritis, chronic disease, immunosuppression
Organism: Staphylococcus aureus (Salmonella is most associated with SCD; however, SA is still more common)
What are the signs and symptoms of septic arthritis?
- Single joint, usually hip
- Erythematous, warm, tender; reduced range of movement; infants will hold limb still (pseudoparalysis) / cry
- Acute unwell, febrile child
What are the investigations for septic arthritis?
- Septic screen
- Blood cultures and FBC (↑ WCC, ↑ CRP/ESR)
- Joint aspiration and MC&S
- 1st: XR (not evident until >2-3w of symptoms)
- 2nd: MRI (shows soft tissue and effusions/collections)
What is the management of septic arthritis?
(IV (2 weeks) –> oral (4 weeks) ABx):
- 1st line: Flucloxacillin
- 2nd line:
- Penicillin-allergic –> Clindamycin
- MRSA –> Vancomycin
- Gram-negative –> 3rd generation cephalosporin (e.g. cefotaxime)
o Joint wash-out and aspirated to dryness PRN (through closed needle aspiration or arthroscopically)
o Washing out of the joint or surgical drainage may be required
What is JIA?
• Most common chronic inflammatory joint disease in children/adolescents in the UK
• JIA = persistent joint swelling (>6w duration) presenting before 16yo, in the absence of infection or other defined cause
- 95% have disease distinct from RhA in adults (think of it like a distinct child’s form of RhA)
- 1 in 1,000 children (i.e. common as epilepsy)
What are the signs and symptoms of JIA?
≥7 clinical subtypes of JIA – clinical classification and based on number of joints affected in first 6m and presence of rheumatoid factor and HLA B27 tissue type
- Polyarthritis = >4 joints
- Oligoarthritis = ≤4 joints
- Systemic with fever and rash
- Gelling (stiffness after periods of rest)
- Morning joint stiffness/pain
- Intermittent limp - Limited movement
What are the late signs of JIA?
- Inflammation ± bone expansion (overgrowth with leg lengthening/valgus in systemic onset)
• Genu valgum / “Knock Knees” - Salmon-coloured rash (Koebner phenomenon) –> pathogenomic of systemic JIA
- Intermittent fever
- Visual impairment (chronic anterior uveitis)
- Swan-neck deformity and hand problems
What are the investigations for JIA?
Clinical diagnosis:
o Bloods, imaging to provide classification and prognostic information
o ANA, FBC, RhF, CRP/ESR, anti-CCP
o USS ± MRI
What is the management of JIA?
MDT rheumatology management:
- OT and PT (inactivity leads to deconditioning, disability and decreased bone mass)
- NSAID analgesia (pain and stiffness)
- Corticosteroids (whilst waiting for second-line agents to have an effect): high to low dose…
o Intra-articular
o High dose to induce a remission-state –> switch to low dose oral to maintain - DMARDs –> used when disease fails to respond to conventional treatments
o 1st line = oral/SC methotrexate
o 2nd line = sulfasalazine - DMARDs indications = JIA, RhA, SLE, psoriasis
- DMARD medications = methotrexate, sulfasalazine, MMF, hydroxychloroquine, cyclophosphamide, ciclosporin, azathioprine, tacrolimus, IM gold, tofacitinib, apremilast, penicillamine, leflunomide
- Regular blood tests required
o Biologics / cytokine modulators (i.e. TNF-a inhibitors)
o Other treatments: interleukin receptor antagonists, anti-emetics
What is the prognosis for JIA?
Most children can expect good disease control and quality of life:
- With poor disease control, patients can experience significant morbidity from joint damage and visual impairment leading to anterior uveitis and fractures from osteoporosis
Other complications:
- Chronic anterior uveitis (often insidious)
- Constitutional problems (i.e. anaemia)
- Flexion contractures of the joints
- Osteoporosis
- Growth failure
- Amyloidosis
What are the main causes of reactive arthritis?
Causative organisms (preceding):
- Enteric bacteria – Salmonella, Shigella, Campylobacter, Yersinia
- Viral infections
- STIs (adolescents) – chlamydia, gonococcus
- Other – mycoplasma, borrelia burgdorferi / Lyme disease
What are the signs and symptoms of reactive arthritis?
- Transient joint swelling (<6w duration) – often ankles or knees
- Follows evidence of extra-articular infection
- Low-grade fever
What are the investigations for reactive arthritis?
A diagnosis of exclusion as no +ve findings:
- Bloods (CRP normal or mildly elevated)
- Normal XR
What is the management of reactive arthritis?
- Self-limiting
- Analgesia / NSAIDs
What is a SUFE?
- Slipped upper femoral epiphysis
- Displacement of epiphysis of femoral head postero-inferiorly, requiring prompt treatment to prevent avascular necrosis
o Adolescent (10-15yo during growth spurts); bilateral in 20% - Risk factors = obesity, metabolic endocrine disease (i.e. hypothyroid, hypogonadism), male
What are the signs and symptoms of SUFE?
- Limp/hip pain ± referred to the knee
- Insidious or acute onset (i.e. after minor trauma)
- “Loss of internal rotation of a flexed hip”
- Trendelenburg gait +ve (lean on one side)
What are the investigations for SUFE?
Hip XR in AP and frog-lateral view (both hips)
- Trethowan sign; loss of triangular sign of Capener; metaphyseal blanch sign
What is the management of SUFE?
- Analgesia, bed-bound
- Surgical internal fixation at growth plate
What is transient synovitis?
Transient synovitis = irritable hip; 3-10yo
- If age <3yo with an acute limp – urgent hospital assessment
Commonest cause of hip pain in children
What are the signs and symptoms of transient synovitis?
- Acute hip pain associated with a viral infection
- Low-grade fever
What are the investigations and management of transient synovitis?
- Clinical
- Self-limiting
What is the Kocher Criteria?
Distinguishing transient synovitis from septic arthritis
More likely to be due to septic arthritis if: • Temperature >38.5C • Unable to bear weight on limb • ESR >40 • WCC >12
0 = not likely 1 = 3% SA risk 2 = 40% SA risk 3 = 93% SA risk 4 = 100% SA risk
What is DDH?
Spectrum of conditions affecting proximal femur and acetabulum, ranging subluxation to frank dislocation
o True DDH = femoral head has a persistently abnormal relationship with acetabulum –> abnormal bony development, premature arthritis and significant disability
RF: female (5x), FHx, breech presentation, first born, multiple pregnancy, oligohydramnios, high BW / macrosomia
What are the signs and symptoms of DDH?
o Neonatal screening (Barlow and Ortolani +ve)
o Limp or abnormal gait, delayed crawling/walking, toe-walking
o Asymmetrical skin folds
o Limb-length discrepancy (Galeazzi sign – baby on back, legs together and knees flexed – look at leg length)
What are the investigations of DDH?
o <6m old –> Barlow and Ortolani manoeuvre at neonatal screen ± USS (if suspicion remains)
o >6m old –> X-ray (better than USS at this age)
o USS regardless of presentation at 6 weeks if:
- Born breech (irrespective of mode of delivery); OR
- FHx (1st degree family member) of DDH
What is the management of DDH?
1st line (newborn) = Pavlik harness (most will resolve spontaneously by 3-6w of age)
- Harness –> keeps hips flexed and abducted
- Worn constantly for several weeks
- Progress is monitored by repeat ultrasound or X-ray
Complications:
• Avascular necrosis
• Temporary femoral nerve palsy
2nd line (>6 months old) = surgery (if conservative measures fail OR no progress with harness)
What are breath-holding attacks?
Breath-holding attacks – toddler upset –> cries and holds breath –> goes blue, lose consciousness and goes limp
o Attacks resolve spontaneously, drug therapy unhelpful
o Manage with behaviour modification and distraction
What are reflex anoxic seizures?
Reflex anoxic seizures (infants and toddlers):
o Triggered by – pain, head trauma, cold food (ice cream), fright, fever
o Child becomes pale and falls to floor ± general tonic clonic fitting –> brief seizure and rapid recovery
o Episodes due to cardiac asystole due to vagal inhibition
What is a febrile convulsion?
Febrile convulsion = a seizure and fever in the absence of intracranial infection
o 6m to 3yo (shouldn’t occur in older children)
o Genetic predisposition (30% will have further seizures)
What are the signs and symptoms of a febrile convulsion?
o Brief, generalised tonic-clonic seizure on background of fever
o Simple febrile seizure –> do not cause brain damage and no increases risk of epilepsy
o Complex febrile seizures* –> focal, >15 minutes, repeated in same illness, ↑ risk 4-12% of subsequent epilepsy
What are the investigations for febrile seizures?
After a febrile seizure: o Identify and manage cause of fever o No other main investigations (EEG not recommended) o Potentially: - Screen for meningitis/encephalitis - Urine MC&S if infection source unclear - Blood glucose
What is the management of febrile seizures?
Management during a seizure**:
- Protect from injury (cushion their head, remove nearby objects) and do not restrain
- Seizure lasts <5 minutes –> do nothing (unless if… 1st seizure, severe cause, breathing problems)
- Seizure lasts >5 minutes (no drugs available) –> call ambulance (if no medication available)
- Seizure lasts >5 minutes (drugs available) –> administer one of the below – doses on BNFc:
• PR diazepam (repeated once after 5 minutes if the seizure hasn’t stopped); OR
• Buccal midazolam - 10 minutes after first dose ongoing seizure, twitching, or another seizure –> call ambulance
When to call an ambulance for a febrile seizure?
If ongoing seizure in HOSPITAL –> Status Epilepticus Guidelines
- 1st seizure (of any duration and cause)
- Suspect seizure caused by serious illness
- Seizure lasts >5 minutes (no drugs)
- Breathing difficulties
What is the management after a febrile seizure?
Immediately after – check ABCs and place in recovery position
When to admit a patient with a febrile seizure?
- First febrile seizure
- <18 months old
- Diagnostic uncertainty about cause
- Complex febrile seizure (>15mins, focal, repeat <24 hrs, no recovery <1hr)
- Currently on ABx
How to educate a parent after a child has a febrile seizure?
- Febrile convulsions are not the same as epilepsy
- Simple: no increased risk of future epilepsy
- 33%-50% will have another febrile convulsion
- Complex: slight increased risk of epilepsy (4-12%)
- If recurrent –> teach parents how to give medications
- Continue routine immunizations
Managing a fever:
- Do not try and cool the child
- Regular paracetamol and ibuprofen
- Adequate fluid intake
- Seek advice if prolonged fever
What is epilepsy?
a disease characterised by an enduring predisposition to generate epileptic seizures and by the neurobiological, cognitive, psychological and social consequences of the condition
What is a seizure?
Transient occurrence of signs or symptoms due to abnormal excessive or synchronous activity in the brain:
o Focal (partial) → start in one part of the brain
o Generalised → more distributed, affect both hemispheres of the brain
What are the risk factors of epilepsy?
- Genetic predisposition
- Perinatal asphyxia - Metabolic disorders
- Trauma
- Structural CNS abnormalities
- Complex febrile seizures
What is the classification of epilepsy?
New classification according to International League Against Epilepsy 2017:
- Where seizures begin in the brain
- Focal
- Unknown
- Generalised
- Focal to bilateral - Level of awareness
- Focal aware (awareness intact)
- Focal impaired
- Awareness unknown (unwitnessed)
- Generalised (presumed to affect awareness) - Other features of seizure
- Focal onset:
• Motor onset (movements can include → twitching, jerking, stiffening, automatisms)
• Non-motor (cognitive, emotional, sensory)
- Generalised onset:
• Motor → tonic (stiffening) and clonic (jerking) = “Grand Mal”
• Non-motor → absence, brief changes in awareness ± automatic/repeated movements
N.B. focal to bilateral is the old term for secondary generalised (now generalised only applies to how the seizure begins, and not the fact that it became a generalised after starting as focal)
A “focal aware, motor onset seizure” or say, a “generalised non-motor seizure” = absence seizure
What are the signs and symptoms of an absence seizure?
Absence / generalised non-motor seizure:
• Brief impairment of consciousness, 5-10 seconds
• Behavioural arrest or staring – interrupting normal activity
What are the signs and symptoms of a tonic-clonic seizure?
Tonic-clonic:
• Patient falls unconscious ± preceding aura
• Violent muscle contractions and shaking
• Eyes may roll back, tongue biting, incontinence
• Post-ictal phenomena
What are the signs and symptoms of a myoclonic seizure?
Myoclonic:
• Brief arrhythmic muscular jerking movements
• Last a few seconds, sudden jerking or twitching
3-12yo
Benign Rolandic Epilepsy (BRE) (most common childhood epilepsy)
o S/S: seizures of face / upper limbs during sleep with hypersalivation & speech arrest
o AKA: Sylvian seizures
o Childhood (age 3-12yo) seizures – outgrown at end of puberty
12-18yo
Juvenile myoclonic epilepsy:
o Usually involving neck, shoulders, upper arms, most occur after waking up
o Begin around puberty
Progressive myoclonic epilepsy:
o Rare syndromes
o Combination of myoclonic and tonic-clonic
o Patient deteriorates over time
What are the investigations and management of epilepsy?
MDT: paediatrician, neurologist, SN (epilepsy nurse), school nurse, GP
Referral to neurologist if 1st fit (“first fit clinic”) –> whilst waiting for referral, advise…
- How to recognise a seizure Video record future seizure
- Avoid dangerous activities (i.e. swimming) Seek help if another seizure before referral
Treatment decisions – not all children will require antiepileptic drugs:
- Choice to treat based on –> seizure types, epilepsy type, frequency
• Needs to be weighed against possibility of side effects from antiepileptics
- Treatment is NOT usually given for Benign Rolandic Epilepsy
Appropriate Antiepileptic Drug (AED) Choice:
- Appropriate AED for seizure and epilepsy type (as some make the seizures worse)
• Lamotrigine –> exacerbate myoclonic seizures
• Carbamazepine –> exacerbate absence seizures
- Monotherapy at lowest dose possible (potential adverse side effects)
• Can use adjuncts to monotherapy but aim for lowest dose possible
- Rescue therapy for prolonged epileptic seizures (convulsive with loss of consciousness >5 minutes)
• Buccal midazolam
- No monitoring requires (apart from carbamazepine)
- AED therapy may be discontinued after 2 years free of seizures
Generalised:
- Tonic-Clonic –> valproate 2nd line: lamotrigine, carbamazepine, oxcarbazepine
- Absence –> valproate, ethosuximide
2nd line: lamotrigine
- Myoclonic –> valproate 2nd line: levetiracetam, topiramate
- Focal –> carbamazepine, lamotrigine
2nd line: levetiracetam, oxcarbazepine, valproate
Side effects:
• Valproate –> weight gain, hair loss, rare idiosyncratic liver failure
• Carbamazepine –> rash, neutropoenia, hyponatraemia (SIADH), ataxia, inducer
• Lamotrigine –> severe skin rash (SJS)
• Levetiracetam –> sedation (rare)
What are other treatments for epilepsy?
Other treatment options in children with intractable epilepsies:
- Ketogenic diets (low carb, fat based)
- Vagal nerve stimulation
- Surgery (only in children with epilepsy that has a well-localised structural cause)
What is status epilepticus?
- 1 epileptic seizure lasting >5 minutes; OR
- ≥2 seizures within a 5-minute period without the person returning to normal between them; OR
- 1 febrile seizure lasting >30 minutes
What are the causes of west syndrome?
Causes and aetiology:
- Symptomatic (any disorder causing brain damage)
- Prenatal conditions
- Genetic syndromes
- Hypoxic/ischaemic/trauma brain damage
- Congenital infections
- Idiopathic
What are the signs and symptoms of west syndrome?
o Spasms – sudden, rapid, tonic contraction of trunk and limb muscles with gradual relaxation over 0.5-2 seconds
- “Salam attacks” – head goes down and arms go up in the air
- Looks like ‘colic’
- Contractions last 5-10 seconds
- From gentle nodding of the head to powerful movements of the body
- Occur in clusters, usually associated with waking or before sleeping
o Psychomotor delay
o Hyperpigmented skin lesions
o Growth restriction
What are the investigations for west syndrome?
EEG (hypsarrhythmia – disordered activity in the brain)
What is the management of west syndrome?
o Poor prognosis
o Vigabatrin or corticosteroids
What is vasovagal syncope?
Emotional → fear, pain, shock, sudden sounds or sights
Orthostatic → prolonged standing, crowds, hot
What are the signs and symptoms of vasovagal syncope?
- Brief LOC,
- spontaneous recovery,
- no signs of seizure activity,
- link to trigger
What are the investigations for vasovagal syncope?
- Lying and standing BP with ECG if indicated (i.e. query cardiac cause)
- FBC (rule out anaemia ± bleeding)
What is the management of vasovagal syncope?
- Avoid triggers
- Lie down flat to avoid fainting
What are children at high risk of?
Children are at a high risk for contusion and intracerebral haemorrhage following head injury, but they are also at an increased risk from CT radiation to the head causing cancer so clear guidelines depict CT scanning in children
What is the criteria for brain haemorrhage management?
Head injury and ≥2 of the following –> CT scan <1 hour; if just 1 of the following –> observe for a minimum of 4 hours
o LOC >5 minutes
o Abnormal drowsiness
o ≥3 episodes of vomiting
o Dangerous mechanism / high-impact injury
o Amnesia >5 minutes (anterograde and retrograde)
Head injury and 1 or more of the following –> CT scan <1 hour
o NAI
o Post-traumatic seizure (no epilepsy history)
o GCS <14
o 2 hours after injury GCS <15
o Suspected open/depressed skull fracture / tense fontanelle
o Basal skull fracture signs (i.e. racoon eyes, battle sign, rhinorrhoea)
o Focal neurological deficit
o Child <1yr and bruise, swelling or laceration >5cm on head
What is extradural haemorrhage?
• Usually following direct trauma
• Can be associated with skull fracture – tear of middle meningeal artery
o Battle sign
o Racoon eyes
What are the signs and symptoms of an extradural hemorrhage?
o Lucid interval followed by deterioration of consciousness and seizures o Potential focal neurological signs - Dilatation of ipsilateral pupil - Paresis of contralateral limb - Anaemia - Shock
What are the investigations for an extradural haemorrhage?
CT-head
What is a subdural haemorrhage?
• Results from tear of vein as they cross the subdural space
o Gradually decreasing GCS (no lucid interval, just gradually decreasing)
• Characteristically NAI with shaking of a baby or direct trauma
• Potential retinal haemorrhages
What is a subarachnoid haemorrhage?
Rare in children; cause often aneurysm or AVM
What are the signs and symptoms of subarachnoid haemorrhage?
acute onset head pain, neck stiffness, fever ± seizures or coma
What are the investigations of subarachnoid haemorrhage?
CT, avoid LP (due to risk of increased ICP)
What is the management of subarachnoid haemorrhage?
neurosurgery or interventional radiology
What is an intraventricular haemorrhage and its grades?
Bleeding into ventricles, occurs more often in premature babies due to VLBW and LBW:
o Grade I – bleeding just in germinal matrix
o Grade II – intraventricular bleeding (but no enlargement)
o Grade III – intraventricular bleeding with enlargement ventricles
o Grade IV – bleeding extends into brain tissue around ventricles
- After grade 3 or 4, blood clots can form which can lead to secondary hydrocephalus
- 50% with progressive post-haemorrhagic ventricular dilatation –> cerebral palsy in later life
Bilateral multiple cysts = Periventricular Leukomalacia (PVL) = 80-90% risk of spastic diplegia (Cerebral Palsy)
- Periventricular white matter damage –> difficult to detect –> if cystic lesions become evident 2-4w later on USS, there is a definite loss of white matter (bilateral multiple cysts = Periventricular Leukomalacia / PVL)
What is the aetiology of intraventricular haemorrhage?
Due to changes in perfusion of the delicate cellular structures present in the growing brain from…
- ECMO (Extra-Corporeal Membrane Oxygenation) in preterm babies (severe RDS)
- Congenital CMV infection
What are the signs and symptoms of intraventricular haemorrhage?
o Presenting = sleepiness and lethargy
o Other = apnoea, reduced/absent Moro reflex, low tone, tense fontanelle
What are the investigations for intraventricular haemorrhage?
trans-fontanelle USS
What is the management of intraventricular haemorrhage?
o Fluid replacement
o Anticonvulsant
o Acetazolamide (reduce CSF) ± LP
o Ventriculo-peritoneal Shunt (VPS) – if hydrocephalus
What is hydrocephalus?
Hydrocephalus = increased volume of CSF occupying ventricles
What is communicating hydrocephalus?
Communicating → flow of CSF is obstructed after it exits the ventricles (failure to resorb CSF); causes:
- Meningitis (pneumococcal, TB)
- SAH
What is a non-communicating hydrocephalus?
Non-communicating → flow of CSF is obstructed within the ventricles; causes:
- Congenital –> Aqueduct stenosis (often of cerebral aqueduct (3rd to 4th ventricles) blocked)
• Dandy-Walker malformation (4th ventricle enlarged with no outlets)
• Chiari malformation (cerebellar tonsils displaced down through foramen magnum)
- Acquired –> Aqueduct stenosis
• IVH (preterm infants; grade 3 or 4)
• Tumour
What are the signs and symptoms of hydrocephalus?
o Acute: vomiting, irritable, impaired consciousness
o Chronic: FTT, developmental delays
o Other: ↑ head circumference, tense fontanelle,
increased tone, papilloedema, ataxic gait, 6th nerve palsy
o Sunset sign – eyes appear to be driven down bilaterally
What are the investigations of hydrocephalus?
o Cranial USS
o Measure head circumference
What is the management of hydrocephalus?
o 1st line = Ventriculoperitoneal shunt (may fail due to blockage or infection –> require replacement)
- May require removal of obstruction
- Sometimes, endoscopic treatment to create a ventriculostomy is performed
o Medical = furosemide (inhibit CSF production)
What is a primary, secondary or trigeminal migraine?
- Primary → migraine, tension-type, cluster, other
- Secondary → symptomatic of underlying pathology (↑ ICP, SOL, alcohol)
- Trigeminal and other cranial neuralgias → e.g. nerve root pain from herpes zoster
What is episodic and chronic migraine?
- Episodic = <15 days/month
- Chronic = ≥15 days/month
What are the signs and symptoms of migraines?
Tension-type –> symmetrical headache, gradual onset, “tight band”
Migraine –> without aura = 90% migraines; aura = 10% migraines:
- W/O aura –> 1-72hrs, bilateral/unilateral, pulsatile temporal, GI symptoms, worse with physical activity
- With aura = aura (visual, sensory or motor), maybe no headache, few hours, FHx, trigger (stress, foods)
• Visual –> -ve signs (hemianopia, scotoma); +ve signs (fortification spectra or “zigzag lines”)
General:
- FHx of migraine
- Headache after eating certain foods
- Vomiting/pallor
- Preceding aura
- Unilateral, throbbing, >1 hour
Cluster –> unilateral (eye, side of face), sharp/burning/throbbing, watery/swollen eye/face, occur in clusters
Secondary –> visual field defects, gait or cranial nerve abnormalities, growth failure, papilloedema, etc.
What are the investigations for a migraine?
o Good history and examination (imaging not needed unless red flag symptoms; i.e. early morning headache)
What is the management of a migraine?
Medical education:
- Headaches are common
- No long-term harm
Medications: - Analgesia --> ibuprofen > paracetamol - Anti-emetics: • 6+ cyclizine • 12+ prochlorperazine, metoclopramide (2nd line: codeine phosphate) - Serotonin 5HT1 agonists: • 12+ triptans (sumatriptan)
Migraine-specific:
- Assess the severity and frequency of attacks, and the impact on the patient’s life:
• Quality of attacks – intensity and site of pain, associated symptoms
• Timing and frequency – when they start, reason for consultation, how often they occur, temporal pattern, how long they last, time off school
- Identify cause –> emotional problems (i.e. bullying), general health, etc.
• Consider headache diary (8 weeks)
• Optician referral
• Consider psychiatry referral • Weight, height, BP
Acute Management (in 12-17-year olds):
• Step 1: simple analgesia (paracetamol, ibuprofen – no aspirin <16yo due to Reye’s syndrome)
• Step 2: nasal sumatriptan (oral cannot be used in people <18yo)
• Step 3: combination nasal triptan and NSAID/paracetamol
- Consider anti-emetics (metoclopramide or prochlorperazine)
- Follow-up in 1 month or return if symptoms worsen
• Prophylaxis:
- Topiramate (risk of foetal malformations)
- Propranolol (not in asthmatics)
What is Tic disorder?
Tics = fast, repetitive muscle movements that result in sudden and difficult to control body jolts or sounds
o Common, appear around 5yo, not usually serious, most disappear by adulthood
- May come and go over several years
- 1 in 3 rules (1 in 3 won’t have tics as an adult, 1 in 3 have mild tics, 1 in 3 will have severe tics)
o Genetic component –> can occur alongside OCD and ADHD
o Tourette’s = chronic and multiple tics –> no cure; treatments the same as the below
- Tics must begin before 18yo
- Must persist for longer than 1 year
- Exclude any other cause
What are the signs and symptoms of Tic disorder?
o Brought about by triggers, focussing on them can make them worse
o Types = motor, vocal or phonic types; e.g.
- Blinking
- Clicking fingers - Coughing, grunting
- Repeating sound or phrase
What is the investigation and management of Tic disorder?
o Self-help (sleep & stress management, don’t draw attention to tic, don’t tell child off for it, etc.)
o Very debilitating:
- Habit reversal therapy (learn movements to “compete” with tics, so tics can’t happen at the same time)
- Exposure with response prevention / ERP (help the child get used to the unpleasant sensations that are often felt just before a tic, which can stop the tic occurring)
o Medications:
- 1st line = antipsychotics (i.e. risperidone) – N.B. SEs: weight gain, blurred vision, constipation, dry mouth
- 2nd line:
• Clonidine – treat tics and ADHD at the same time
• Clonazepam
• Tetrabenazine – treats tics that are caused by an underlying condition (i.e. Huntington’s)
• Botulinum toxin – injected into the certain muscle but only last <3m
o Surgery –> deep brain stimulation therapy (for severe Tourette’s syndrome)
WHat is duchenne muscle dystrophy?
Most common muscular dystrophy; 1 in 3,000-6,000 male infants
o X-linked recessive (males affected mainly); 1/3rd have de novo mutations though
o Symptoms 1-3yo –> 5yo diagnosis –> no longer ambulant by ~10yo –> medial LE 35yo
- LE is increasing more and more (lower DALYs) as care improves (i.e. glucocorticoids)
o Deletion of dystrophin gene:
- Connects cytoskeleton of muscle fibres to ECM through cell membrane
- Where deficient –> influx of Ca2+ –> calmodulin breakdown –> excess free radicals –> myofibre necrosis
What are the signs and symptoms of duchenne muscle dystrophy?
o Developmental delay (persistent waddling gait, language delay) – n.b. there is some language delay
- Toe-walking
- Mount stairs one-at-a-time
- Decreased tone and power
- Run slowly, tire quickly
o Gower’s sign – the need to turn prone to rise
o Pseudohypertrophy of calves (due to replacement of muscle fibres by fat and fibrous tissue)
o Primary dilated cardiomyopathy
What are the investigations of duchenne muscle dystrophy?
o Clinical history and examination
o Plasma CKP (creatine phosphokinase –> elevated) – due to myofibre necrosis
o EMG, genetic testing, biopsy
What is the management of duchenne muscle dystrophy?
No cure, often management is to alleviate the symptoms:
o Physiotherapy (to clear lungs) and exercise (help prevent contractures)
o Psychological support
o Medical:
- CPAP (weakness of intercostal muscles –> nocturnal hypoxia –> daytime headache, irritability, etc.)
- Glucocorticoids (delay need for wheelchair)
- Cardioprotective drugs (i.e. carvedilol; for preservation of left ventricular ejection fraction)
o Surgery (PRN):
- Tendoachilles lengthening
- Scoliosis surgery (often co-presents) may be required
What is becker muscle dystrophy?
Same signs & symptoms as Duchenne’s MD, but often less severe and progresses at a slower rate
o Learn to walk a little later than usual
o Muscle cramps after exercise
o Struggle with sports at school
o As they age, they struggle with lifting objects, etc.
Can walk into their 40s and 50s but then require a wheelchair
What is myotonic muscle dystrophy?
Autosomal dominant; trinucleotide repeat disorder
o Most common adult-onset (20s to 30s) muscular dystrophy
o Genetic anticipation (gets worse/earlier onset as the gene is passed down generations)
o Varied life expectancy (from death at neonatal age in severe forms to normal life expectancy)
What are the signs and symptoms of myotonic muscular dystrophy?
o Muscles contract and are unable to relax
o Progressive muscle loss and weakness (smaller muscles > larger muscles; reverse of Duchenne’s)
o Heart problems, cataracts, abnormal intellectual functioning, myotonia
What are trinucleotide repeat disorders?
Fragile X (CGG) Huntington's (CAG) Myotonic dystrophy (CTG) Friedreich's ataxia* (GAA) Spinocerebellar ataxia Spinobulbar muscular atrophy Dentatorubral pallidoluysian atrophy
What is NF1/NF2?
NF1 = AD, high penetrance (variable expression), 1 in 3,000 live births
o Mutation in NF1 gene – 50% are a de novo mutation
o NF2 → like NF1 but more internal/hidden signs – less common, presents in adolescence, bilateral acoustic neuromas ± deafness, cerebellopontine angle syndrome with facial nerve paresis and cerebellar ataxia
What are the associations of NF1?
- MEN2
- Phaeochromocytoma (VHL, NF1, MEN2)
- Pulmonary HTN
- RAS with HTN
What are the signs and symptoms of NF1?
Need ≥2 of the following to diagnose:
o ≥6 café au lait spots, >5mm pre-puberty, >15mm post-puberty
- Cutaneous features more prominent after puberty
o >1 neurofibroma – firm nodular overgrowth of nerve
o Axillary freckles
o Optic glioma ± visual impairment
o One Lisch nodule – hamartoma of iris (on slit-lamp exam)
o Bony lesions from spheroid dysplasia ± eye protrusion
o First degree relative with NF1
What is tuberous sclerosis?
TS = 1 in 9,000, AD, 70% new mutations
o Genetic mutation in TSC1 or 2 genes
o Rare genetic condition, causes mainly non-cancerous (benign) tumours to develop in different parts of the body
What are the signs and symptoms of tuberous sclerosis?
Cutaneous features:
- Woods Lamp –> “Ash Leaf” patch / amelanotic naevi
- Shagreen patches (rough skin on lumbar spine)
- Angiofibromata (butterfly facial distribution)
Neuro features:
- Infantile spasms / developmental delay
- Epilepsy (focal)
- Intellectual disability (often with ASD)
Other features:
- Subungual fibromata
- Dense white areas on retina (local degeneration)
- Rhabdomyomata of heart
- Angiomyolipoma
Nodules develop in brain –> subependymal giant cell astrocytoma –> non-communicating hydrocephalus
What are the investigations for tuberous sclerosis?
o CT scan (calcified subependymal nodules and tubers from 2+ years) o MRI (more sensitive and clearly identified other tubers and lesions)
What is sturge-weber syndrome?
Sporadic disorder → haemangiomatous facial lesion (port-wine stain) in distribution of the trigeminal nerve
o Lesion intracranially = ipsilateral leptomeningeal angioma
o Ophthalmic division of trigeminal nerve always involved
What are the signs and symptoms of sturge-weber syndrome?
- Epilepsy (may benefit from hemispherotomy) Intellectual disability
- Contralateral hemiplegia - Glaucoma (50%)
- Phaeochromocytoma
What are the investigations for Sturge weber syndrome?
- MRI
- Outdated –> head x-ray (“rail-road” track sign)
What is somatisation?
Communication of emotional distress, troubled relationships, and personal predicaments through bodily symptoms (i.e. somatic symptoms)
What are the signs and symptoms of somatisation?
o Recurrent abdominal pain (peak age 9yo) – sharp and colicky
- Affects 10% of school-aged children
- Majority of cases have no organic cause
- Apley’s rule “the further the pain from the umbilicus, the more likely the pain is of an organic nature”
o Recurrent headaches (peak age 12yo)
o Limb pain, aching muscles, fatigue, neurological symptoms (>12yo)
What are the investigations of somatisation?
Diagnosis of exclusion: o Full physical examination o Full, detailed history (especially social) --> school, friends and family, timeline of pain - Can be done alone (no parents) - Reports from school can be useful
What is the management of somatisation?
o 1st line:
- Promote communication between family and child (and school if necessary)
- Pain-coping skills – i.e. relaxation techniques for headaches
o 2nd line (if 1st line fails or serious family dysfunction / impaired general functioning) –> referral to CAMHS
What is developmental delay?
Developmental delay = taking longer to reach developmental milestones than would be expected for children their age
Aetiology:
- Genetics – Cerebral palsy, - Down’s syndrome - Epilepsy
- Infection - Malabsorption disorders – coeliac, IBD
- Metabolic causes – hypothyroidism - Autism, ADHD, learning disabilities, eating disorders
- Depression & anxiety
What are the signs and symptoms of developmental delay?
- Isolated developmental delay in one domain - FHx of delay/syndrome
- Global delay - Dysmorphic features
What are the investigations for developmental delay?
- Metabolic, genetic, infection screen
- IQ test
- ASD or ADHD testing
What is the management of developmental delay?
o MDT – SALT, OT, PT, family counselling, behavioural intervention, educational assistance
o Manage associated conditions
o Prognosis – usually good if isolated but global delay has high association with syndromes with poor prognosis
What are the common types of conjunctivitis?
In children – bacterial or allergic be wary of sight-threatening conjunctivitis in neonates
In adults – viral or allergic
What are the signs and symptoms of conjunctivitis?
Bacterial / viral (painful red eyes, lacrimation ± purulent discharge, “gritty eyes”, NO visual change) o Allergic (bilateral, pruritic (ITCHING) )
Neonate:
- <48hrs of life –> discharge ± conjunctivitis, swelling eyelids –> Gonococcus
- 1-2w of life –> discharge ± conjunctivitis, swelling eyelids ± pneumonia –> Chlamydia trachomatis
What are investigations of conjunctivitis?
o Bacterial –> swab MC&S staphylococcal or streptococcal
o Viral –> rapid adenovirus immunoassay
o Neonate gonococcal infection –> gram stain, culture
o Neonate chlamydia infection –> immunofluorescent staining
What is the management of conjunctivitis?
o Most viral/bacterial infections are self-limiting
o Neonate gonococcal infection –> immediate empirical treatment 3rd gen cephalosporin (i.e. ceftriaxone) *
o Neonate chlamydia infection –> oral erythromycin, 2 weeks *
What is hypermetropia?
Long sight (see long distance (not short) and rays focus behind retina):
o Mild hypermetropia common in early childhood (corrected by improvement of accommodation reflex)
o Management –> glasses (convex lens – make the eye look bigger)
What is myopia?
Short sight (see short distance (not long) and rays focus in front of retina):
o Uncommon in childhood, more common in teenagers
- Childhood conditions = pre-term refractive errors
o Management –> glasses (concave lens)
What is retinopathy of prematurity?
Affects developing blood vessels at the junction of the vascularised and non-vascularised retina
o Aetiology: vascular proliferation → retinal detachment → fibrosis → blindness
o Risk factors: uncontrolled use of high concentrations of O2 (seen in 35% of LBW infants)
What are the signs and symptoms of retinopathy of prematurity?
o Unusual eye movements
o White pupils and vision loss
What is the management of retinopathy of prematurity?
o Screening (LBW <1500g, or prematurity <32w gestation) o 1st line: laser photocoagulation or cryotherapy
Prognosis –> severe bilateral visual impairment in 1% of LBW infants, mostly in infants <28w gestation
What is strabismus and the signs and symptoms?
Abnormal alignment of eyes
- S/S: eyes look in different directions and do not focus simultaneously on a single point
- Diagnosed 1-4yo; normal in young infants before 6m
Two types:
o Non-paralytic (refractive error in one or more eye)
o Paralytic (squinting eye could be caused by motor nerve paralysis or SOL) – i.e. 3rd nerve palsy
What is the management of strabismus?
Before 8yo, as this is when brain connections can be rewired until:
- 1st line = Eyeglasses - 2nd line = Eye patching
- 3rd line = Eye drops - 4th line = Eye muscle surgery
What are the common presentations of non-accidental injury?
- Bruising (on non-contact areas)
- Broken bones (spiral fractures of long bones; non-ambulant)
- Drowsiness (subdural haematoma)
- Neglect (unkempt)
- Failure to thrive - STIs, recurrent UTIs
- History not consistent - Torn frenulum labii superioris (tongue)
- Glove and stocking burn - Anal fissures, encopresis
Who are common abusers?
30% father
15% unrelated men
10% older brothers
Who to involve in non-accidental emergency?
o Senior colleagues
o Named doctor for child protection
o Contact social services and make a formal referral
o Consider contacting the police (Child Abuse Investigation Team / CAIT)
- Convene a case conference
- Place child’s name on child protection register
- Give support to parents - Ask for regular follow-up by paediatricians
o Consider contacting Multi-Agency Safeguarding Hub (MASH)
- Includes a variety of people that help manage different aspects of a child’s life
What is shaken baby syndrome?
Classical triad of features:
(1) Retinal haemorrhages
(2) CT –> brain swelling / encephalopathy
(3) CT –> subdural haematoma
What are the investigations for non-accidental injury?
o Full body ± skeletal survey (have to note ALL blemishes on child’s body on a body map)
o Check Child Protection Register
o CT head scan
o Bloods and bone profile (rule out leukaemia, ITP, haemophilia)
o Fundoscopy (retinal haemorrhages)
What is the management of non-accidental injury?
o GENERAL RULE: if you are suspecting NAI, it is always safe to admit the child
o Child in need plan –> a plan made to give children extra support for health, safety ± developmental issues
o Child protection plan –> a plan made to protect children thought to be at risk of significant harm
o “This is a routine requirement for all children in these situations, and our aim is to keep your child safe”
o “Sometimes when children have similar injuries, they don’t happen by accident and are caused others”
What is SIDS?
SIDS = deaths which remain unexplained after a post-mortem
o Peak age 2-4m (90% <6m old)
o Most common cause of death in 1m-1yo
- RFs: front-sleeping baby, prematurity, LBW, male, maternal smoking, microenvironment (pillow, duvet, heat)
- Protective factors: dummies, breast feeding, room sharing
Police and Coroner always called in any case of unexpected death and Police Child Protection team are involved
What is the advice to give parents to prevent SIDS?
AVOID:
Sleep Positioning/Wrapping:
- Supine sleep position (back for first 6 months) – “Back to Sleep” Campaign
• Increased chance of flattened occiput (deformational plagiocephaly)
• Ameliorate with supervised “tummy time” (prone time) when awake
- Avoid overheating baby (no heavy wrapping or high room temperature)
- “Feet to foot” position in cot
General advice:
- Share a room with your baby for first 6m of life (cot in room)
- Never sleep on a sofa or armchair with baby
- Do not co-sleep (i.e. in adult bed with baby)
- Breastfeed baby if possible
- Keep baby smoke free – during pregnancy and after birth
Support:
- Lullaby Trust – info, leaflets, bereavement support helpline, befrienders, support groups
What is the school exclusion list for infections/diseases?
No Exclusion:
- Conjunctivitis
- Slapped cheek syndrome (fifth disease)
- Hand, Foot & Mouth
- Roseola infantum
- Infectious mononucleosis
- Head lice
- Threadworms
Exclusion for 24 hours after Antibiotics:
- Scarlet fever
Exclusion for 48 hours after Antibiotics:
- Whooping cough (if no antibiotics are given, exclude for 21 days from onset of symptoms)
Exclusion for 4 days from onset of rash:
- Measles
- Rubella
Exclusion until all lesions crusted over:
- Chickenpox
- Impetigo
Exclusion for 5 days from onset of swollen glands:
- Mumps
Until symptoms have settled for 48 hours:
- Diarrhoea and vomiting
Until treated:
- Scabies
Until recovered:
- Influenza
What are the fraser guidelines?
- The young person understands the professional’s advice
- The young person cannot be persuaded to inform their parents or allow the professional to contact them on their behalf
- The young person is likely to begin, or continue having, sexual intercourse with or without contraceptive treatment
- Unless the young person receives contraceptive treatment, their physical or mental health, or both, is likely to suffer
- Young person’s best interests require them to receive contraceptive advice/treatment with/without parental consent
What formula is used to calculate fluid restriction?
• Parkland’s formula
What is the management of toxic shock syndrome?
Ceftriaxone + clindamycin
