Paediatrics Flashcards
What is vesico-ureteric reflux?
Backflow of urine from bladder to ureter and kidney
Presentation of vesico-ureteric reflux
Hydronephrosis on antenatal U/S
Recurrent childhood UTI
Reflux nephropathy (chronic pyleonephritis secondary to VUR)
Grade 1 VUR
Reflux to ureter only, no dilation
Grade 2 VUR
Reflux to renal pelvis on micturation, no dilation
Grade 3 VUR
Mild/moderate dilation of ureter, renal pelvis and calyces
Grade 4 VUR
Dilation of renal pelvis and calyces, moderate ureteral tortuosity
Grade 5 VUR
Gross dilation of ureter, pelvis and calyces with ureteral tortuosity
Management of vesico-ureteric reflux
Mild likely to self resolve Prophylactic antibiotics Management of hypertension Gel injected into end of ureter Surgical ureteral implantation (rare)
Investigations for vesico-ureteric reflux
Micturating cystourethrogram
DMSA scan to look for renal scarring
Define enuresis
Involuntary discharge of urine by day or night or both, in a child aged 5 years or older, in the absence of congenital or acquired defects of the nervous system or urinary tract
Types of noctural enuresis
Primary: child never had continence
Secondary: child dry for 6 months or more prior
What conditions do you need to exclude when seeing a child with noctural enuresis?
Diabetes
UTI
Constipation
Management of noctural enuresis
Check for underlying causes
Advise on fluids, diet, toileting behaviour
Star chart for behaviours (e.g. toilet before bed), not dry nights
Enuresis alarm under 7 years
Desmopressin over 7 years
Inheritance of homocystinuria
Autosomal recessive
What is homocystinuria?
Deficiency in cystathionine beta synthase
Causes increased blood and urine homocysteine
Presentation of homocystinuria
In early childhood
Tall, fair hair Marfanoid appearance Kyphoscoliosis Atherosclerosis, stroke Low IQ Epilepsy Glaucoma Downwards lens dislocation Cataracts
Management of homocysteinuria
Vitamin B6
Folate
Half of children won’t respond to B6 and will need a low methionine diet
What is a low methionine diet?
Largely vegan
Protein from nuts, lentils
Minimise protein from meats, eggs, milk
What is developmental dysplasia of the hip?
Spectrum of disease from mild acetabular dysplasia to frankly dislocated femoral head
Risk factors for developmental dysplasia of the hip
Female > Male 6:1 Breech Family history First born child Oligohydramnios Birth weight >5kg Congenital calcaneovalgus foot deformity
What percentage of children are born with developmental dysplasia of the hip?
1-3%
20% cases bilateral
Left hip affected more than right
Screening for developmental dysplasia of the hip
Routine ultrasound if: first degree relative of hip problems at early age, breech at or after 36 weeks, multiple pregnancy
All infants screened at birth and 6 weeks with Barlow and Ortolani
Examination for developmental dysplasia of the hip
Barlow - attempts to dislocate an articulated femoral head
Ortolani - attemps to relocate a dislocated femoral head
Symmetry of leg length
Imaging for developmental dysplasia of the hip
Ultrasound
Xray if >4.5 months
Management of developmental dysplasia of the hip
Most stabilise themselves by 3-6 weeks
Pavlik harness if under 5 months
Older children may need surgery
Which children tend to be affected by slipped upper femoral epiphysis?
Age 10-15
Males
Obese
What is slipped upper femoral epiphysis?
Displacement of the femoral head epiphysis postero-inferiorly
Features of slipped upper femoral epiphysis
Acutely after trauma or chronic symptoms
Hip, groin, medial thigh or knee pain
Limp
Loss of internal rotation of the leg in flexion
Bilateral slip in 20%
Investigations of slipped upper femoral epiphysis
Xray hip - AP and lateral (frog leg)
Management of slipped upper femoral epiphysis
Internal fixation
What is Perthe’s disease?
Avascular necrosis of the femoral epiphyses
Features of Perthe’s disease
Limp
Hip pain - progressive over a few weeks
Stiffness
Reduced ROM
Investigations for Perthe’s disease
Xray: widening of joint space, decreased femoral head size / flattening of femoral head
Bone scan or MRI if normal xray and persistent symptoms
Management of Perthe’s disease
<6 years: observe
Older children: surgery, cast, braces
Most will resolve with conservative management
Who is affected by Perthe’s disease?
Age 4-8
M>F 5:1
10% cases bilateral
What is ankyloglossia?
Tongue tie
Management of croup
Dexamethasone 0.15mg/kg
High flow oxygen
Nebulised adrenaline
Main cause of croup
Parainfluenza
Features prompting admission in croup
Moderate or severe
Under 6 months
Uncertainty of diagnosis
Known upper airway abnormalities (Downs, laryngomalacia)
What is the average age of adoption in the UK?
4 years
School exclusion in scarlet fever
24 hours after starting antibiotics
School exclusion in whooping cough
2 days after starting antibiotics
School exclusion in measels
4 days from onset of rash
School exclusion in rubella
5 days from onset of rash
School exclusion in chickenpox
Until all lesions have crusted over
School exclusion in mumps
5 days from onset of swollen glands
School exclusion in impetigo
Until lesions are crusted and healed, or 48 hours after antibiotic treatment
School exclusion in scabies
Until treated
School exclusion in influenza
Until recovered
Newborn hearing screening test
Otoacoustic emissions
Newborn and infant hearing test if they fail screening
Auditory brianstem response test
Hearing test age 6-9 months
Distraction test
Hearing test age 18 months-2.5 years
Recognition of familiar objects “where’s the teddy?”
Hearing test >2.5 years
1) Performance testing
2) Speech discrimination tests
Hearing test >3 years
Pure tone audiometry
Done at school entry
What screening tests are done for hearing?
Otoacoustic emissions at newborn
Pure tone audiometry at school entry
How common is an undescended teste?
2-3% of term infants
Higher if preterm
25% cases bilateral
Complications of an undescended teste
Infertility
Torsion
Testicular cancer
Psychological
Management of a unilateral undescended teste
Refer at 3 months if persistent, seen by urologist by 6 months
Consider orchidoplexy around 1 year
Management of bilateral undescended teste
If at birth: urgent review, endocrine/genetic testing
If at 6-8 weeks: urgent 2 week referral to paediatrics
Conditions associated with Wilm’s tumour
Beckwith-Wiedermann syndrome
WAGR syndrome
Hemihypertrophy
1/3rd cases have loss of function mutation in WT1 gene on chromosome 11
Features of Wilm’s tumour
Abdominal mass Flank pain Painless haematuria UTI Systemic features - poor appetite, fever, weight loss
At what age do Wilm’s tumours present?
Typically under 5
Median age 3 years
Management of Wilm’s tumours
Nephrectomy
Chemotherapy
Radiotherapy if advanced disease
Other word used for Wilm’s tumour
Nephroblastoma
What percentage of Wilm’s tumours have metastases at presentation?
20%
Most commonly to lung
Features of growing pains
Never present at the start of the day after waking
No limp
No limitation on physical activity
Systemically well
Normal physical examination
Motor milestones normal
Symptoms often intermittent and worse after a day with lots of activity
Protective factors for sudden infant death syndrome
Breast feeding
Room sharing
Use of dummies
Risk factors for sudden infant death syndrome
MAJOR:
Prone sleeping, Parental smoking, Prematurity, Bed sharing, Hyperthermia or head covering
OTHER: Male sex, Multiple birth, Social class IV and V, Maternal drug use, Winter
What temperature should the vaccine fridge be kept at?
+2 to +8 degrees
Prevalence of iron deficiency anaemia in children
10%
Higher in Asian, Afro-Caribbean, Chinese
Preterm babies at high risk
Causes of iron deficiency anaemia in children
Diet is primary
Malabsorption - check for coeliac
Bleeding
Outside the UK: malaria, parasites, HIV, TB
Management of iron deficiency anaemia in children
Preterm: 5mg elemental iron till weaned Breast/formula milk till 1 year Restrict cows milk Iron rich weaning foods Vit C rich weaning foods 3-6mg/kg daily iron
Causes of Hand, Foot and Mouth Disease
Coxsackie A16
Less often enterovirus 71
Features of hand, foot and mouth disease
Systemic upset - fever, sore throat
Oral ulcers
Vesicles on palms and soles
Management of hand, foot and mouth disease
Symptomatic
No need for school exclusion
What is laryngomalacia?
Common benign cause of noisy breathing
Softening of the larynx, causing collapse during inspiration
Presentation of laryngomalacia
Noisy breathing/intermittent stridor
Around 4 weeks old
Usually self resolves by age 2 years
Cause of scarlet fever
Group A haemolytic streptococci
usually strep pyogenes
Presentation of scarlet fever
Incubation 2-4 days
Fever Malaise Tonsilitis Strawberry tongue Rash - fine erythema, starts on torso, facial sparing, 'sandpaper' texture Desquamination later
Management of scarlet fever
Oral penicillin
Azithromycin if penicillin allergic
Notifiable disease
Complications of scarlet fever
Otitis media
Rheumatic fever - 20 days after infection
Acute glomerulonephritis - 10 days after infection
Central causes of hypotonia
Down’s syndrome
Prader Willi syndrome
Hypothyroidism
Cerebral palsy
Neurological and muscular causes of hypotonia
Spinal muscular atrophy Spina bifida Guillian-Barre syndrome Myasthenia gravis Muscular dystrophy Myotonic dystrophy
Management of paediatric migraine
NSAIDS
Triptans for over 12 years - sumatriptan nasal spray
Prophylaxis:
1st line - propranolol, pizotifen
2nd line - valproate, topiramate, amitryptilline
Cause of roseola infantum
Human herpes virus 6
Features of roseola infantum
Incubation 5-15 days
High fever, lasting a few days
Maculopapular rash follows fever, starts on neck and trunk
Nagayama spots - papular enanthem on uvula and soft palate
Febrile convulsions in 10-15%
Diarrhoea
Cough
Management of roseola infantum
No school exclusion
Symptomatic management
Treatment options for head lice
Wet combing
Malathion
Dimeticone
Cause of head lice
Pediculus capitis (parasite)
Features of chickenpox
Fever initially
Itchy rash starts on head/trunk
Rash is macular then papular then vesicular
Mild systemic upset
Management of chickenpox
Supportive
Keep cool, trim nails, calamine
Infective till all lesions crusted
Management when immunocompromised people are exposed to chicken pox?
VZIG for immunocompromised or newborns exposed
If chicken pox develops then IV aciclovir
Infectivity of chicken pox
4 days before rash until 5 days after rash first developed or when all lesions have crusted
Incubation is 10 to 21 days
Complications of chicken pox
Secondary bacterial infection (NSAIDs increase the risk)
Pneumonia
Encephalitis
Disseminated haemorrhagic chickenpox
Patau syndrome - what is the chromosome abnormality?
Trisomy 13
Patau syndrome key features
Microcephalic Small eyes Cleft lip/palate Polydactyly Scalp lesions
Edward’s syndrome genetics
Trisomy 18
Edward’s syndrome key features
Micrognathia
Low set ears
Rocker bottom feet
Overlapping of fingers
Fragile X syndrome key features
Learning difficulties Macrocephaly Long face Large ears Macro-orchidism
Noonan syndrome key features
Webbed neck
Pectus excavatum
Short stature
Pulmonary stenosis
Pierre-Robin key features
Micrognathia
Posterior displacement of the tongue (may cause upper airway obustruction)
Cleft palate
Prada Willi key features
Hypotonia
Hypogonadism
Obesity
William’s syndrome key features
Short stature Learning difficulties Friendly, extrovert personality Transient neonatal hypercalcaemia Supravalvular aortic stenosis
Cri du chat syndrome genetics
Chromosome 5p deletion syndrome
Cri du chat key features
Characteristic cry due to larynx and neurological problems Feeding difficulties, poor weight gain Learning difficulties Microcephaly and micrognathism Hypertelorism
Measles infectivity
Spread by droplet
Infective from prodrone until 4 days after rash starts
Incubation period 10-14 days
What causes measles?
Measles virus
RNA paramyxovirus
Features of measles
Prodrome - irritable, conjunctivitis, fever
Koplik spots - start before rash, white spots on buccal mucosa
Rash
What does the measles rash look like and where does it start?
Discrete maculopapular rash becoming blotchy and confluent
Starts behind ears
Management of measles
Supportive
Admit if immunosuppressed/pregnant
Notifiable disease
How to manage contacts of measles
Non-immunised children who come into contact with measles should be offered MMR vaccine within 72 hours
Complications of measles
Encephalitis - 1-2 weeks after illness onset
Subacute sclerosing panencephalitis - 5-10 years later
Febrile convulsions
Giant cell pneumonia
Keratoconjunctivitis, corneal ulcer
Diarrhoea
Myocarditis
What type of disease is Kawasaki’s disease?
Systemic vasculitis
Diagnosis of Kawasaki’s disease
Clinical
Highly likely if high fever + 4 other features
OR high fever + 3 other features + ECHO changes
Features of Kawasaki’s disease
High grade fever for >5 days, resistant to antipyretics Bilateral conjunctival injection Red, cracked lips Strawberry tongue Cervical lymphadenopathy Red palms and soles which later peel Non-vesicular rash Irritable child
Management of Kawasaki’s disease
High dose aspirin
IV immunoglobulin
ECHO to screen for coronary artery aneurysms
Complication of Kawasaki’s disease
Coronary artery aneurysms
What causes pertussis?
Bordetella pertussis
gram positive bacteria
Infectivity of pertussis
Incubation 10-14 days
No lifelong protection
Features of pertussis
2-3 coryzal days as prodrome Coughing bouts - worse at night, may cause vomiting Inspiratory whoop Persistent cough Apnoea in infants Symptoms may last 10-14 days Marked lymphocytosis
Diagnostic criteria for pertussis
Acute cough >14 days without clear cause, plus one of
Paroxysmal cough
Inspiratory whoop
Post-tussive vomit
Undiagnosed apnoea in infants
Management for pertussis
Antibiotics reduce spread but not clinical course, start if within 21 days of cough onset
Macrolide - clarithromycin, azithromycin, erythromycin
Prophylactic antibiotics to household contacts
School exclusion for 48 hours after starting antibiotics
Complications of pertussis
Subconjunctival haemorrhage
Pneumonia
Bronchiectasis
Seizures
Risk factors for ADHD
Maternal smoking, drinking, heroin during pregnancy
Low birth weight
Fetal hypoxia
Severe early psychosocial adversity
What is ADHD?
Features relating to inattention and/or hyperactivity/impulsivity that are persistent
Symptoms >6 months and in 2 or more settings (school, work, home)
Symptom onset before age 12
Features of ADHD
Inattention: doesn’t follow direction, easily distracted, difficult to sustain tasks and organise tasks, forgetful
Hyperactivity/Impulsivity: unable to play quietly, talks excessively, doesn’t wait their turn, can’t sit still, interruptive
Management of ADHD
Parental training education programmes
Psychological therapy
Drug treatment
Drug management of ADHD
1st line: Methylphenidate - need to monitor height, weight, BP, heart rate, baseline ECG
2nd line: Lisdexamfetamine - need baseline ECG
Management of otitis media in Down’s syndrome or cleft palate
Urgent referral to ENT
When does benign rolandic epilepsy occur?
Ages 4-12
Features of benign rolandic epilepsy
Seizures at night
Seizures are partial but secondary generalisation may occur
Child otherwise normal
EEG in benign rolandic epilepsy
Centro-temporal spikes
Management of benign rolandic epilepsy
Often not needed
1st line: carbamazepine
Prognosis in benign rolandic epilepsy
Excellent
Majority outgrow by age 16
Causes of microcephaly
Normal variant Familial Congenital infection Perinatal brain injury e.g. hypoxic ischaemic encephalopathy Fetal alcohol syndrome Syndromes e.g. Patau Craniosynostosis
What is the definition of microcephaly?
Head circumference < 2nd centile
How would an older child with missed developmental dysplasia of the hip present?
Trendlenberg gait
Leg length discrepency
Management of eczema
Topical emollient (250g per week) Ratio of emollient to steroid is 10:1 Emollient applied 30 mins before steroid Emollient can get contaminated with bacteria Topical steroids
Contraindications to MMR vaccine
Severe immunosuppression
Allergy to neomycin
Received another live vaccine within 4 weeks
Avoid pregnancy for 1 month after
Immunoglobulin therapy within the last 3 months
Adverse effect of MMR vaccine
Malaise, fever rash after 1st dose
Occurs after 5-10 days
Lasts 2 days
Features of cow’s milk protein intolerance/allergy
Regurgitation and vomiting Diarrhoea Urticaria, atopic eczema Colic symptoms Wheeze, chronic cough Rarely angioedema and anaphylaxis
Diagnosing cow’s milk protein intolerance/allergy
Generally clinical
Skin prick testing
Total IgE and specific IgE
Management of cow’s milk protein intolerance/allergy if bottle fed
1st line: extensive hydrolysed formula
2nd: amino acid based formula
10% also allergy to soya milk
Management of cow’s milk protein intolerance/allergy if breastfed
Eliminate cow’s milk from maternal diet
Mum will need calcium supplement
Extensively hydrolysed formula when weaning till 1 year
Difference between cow’s milk protein intolerance and allergy
Allergy = immediate, IgE mediated
Intolerance = delayed, milder, non-IgE mediated
Features of meningococcal septicaemia
Fever Vomiting Lethargy Non-blanching rash Prolonged cap refill Shock Hypotension
Management of meningococcal septicaemia in the community
Call 999
IV or IM benzylpenicillin (unless history of anaphylaxis)
Chondromalacia patellae
Softening of the patella cartilage
Teenage girls
Anterior knee pain walking up/down stairs, rising from sitting
Responds to physio
Osteochondritis dissecans
Pain after exercise
Intermittent swelling and locking
Osgood schlatter
Sporty teenagers
Pain, swelling, tenderness over the tibial tubercle
Patellar tendonitis
Athletic teenage boys
Chronic anterior knee pain that’s worse after running
Tender below the patella on examination
Patellar subluxation
Medial knee pain due to lateral subluxation of patella
Knee may give way
First sign of puberty in males and age of onset
Testicular growth
Around age 12
Testicular volume >4ml indicates puberty onset
First sign of puberty in females
Breast development
Around age 11.5
Management of threadworms
Mebendazole
Management of labial adhesions
Generally self-resolves by puberty
If problems e.g. recurrent UTI may need topical oestrogens
Severe may be require surgery
What are labial adhesions?
Fusion of the labial minora in the mid-line
Age 3 months to 3 years
Generally self-resolve by puberty
What conditions are tested for with the heel prick?
Cystic fibrosis Hypothyroidism Phenylketonuria Maple syrup urine disease Medium chain acteyl co-A dehydrogenase deficiency Homocystinuria Isovaleric acidaemia Glutaric aciduria type 1
In a child with frank haematuria what should you consider?
Wilm’s tumour
Very urgent paediatric referral
Features of pyloric stenosis
Presents at 3-6 weeks Projectile vomiting Palpable mass in upper quadrant Dehydration Constipation
Investigations for pyloric stenosis
Hypochloraemic, hypokalaemic acidosis
Diagnosed via ultrasound
Who is most likely to get pyloric stenosis?
M>F 4:1
10-15% have family history
First born more commonly affected
Management of pyloric stenosis
Ramstedt pyloromyotomy
Average age of diagnosis of retinoblastoma
18 months
Inheritance and genetics of retinoblastoma
Autosomal dominant
Loss of function of retinoblastoma tumour suppressor gene on chromosome 13
10% cases hereditary
Features of retinoblastoma
Absent red-reflex, replaced by white pupil (Leukocoria)
Strabismus
Visual problems
Management of retinoblastoma
Enucleation
Other options if not advanced: external beam radiation, chemotherapy, Photocoagulation
What should you think of in a baby with lack of red reflex?
Retinoblastoma
What vitamins would someone on orlistat be at risk of becoming deficient in?
Fat soluble
A, D, E, K
What should you do if there are weak or absent femoral pulses at the 6 week baby check?
Discuss with the paediatric consultant on call
Management of umbilical granulomas
Salt application
Silver nitrate cautery
What is glue ear?
Otitis media with effusion
Features of glue ear
Peaks at 2 years
Conductive hearing loss - may present with speech/language delay, behavioural problems
Presentation of acute otitis media
Sudden onset Otalgia Rubbing ear Fever URTI symptoms Hearing loss Ear discharge
Findings of acute otitis media on examination
Bulging TM
Loss of light reflex
Erythema of TM
Otorrhoea
Management of acute otitis media
Generally self limiting
5-7 days amoxicillin
Erythromycin/clarithromycin if pen allergic
When do you give antibiotic therapy in acute otitis media?
If not improving by day 3 Systemically unwell Immunocompromised Significant co-morbidity <2 years and bilateral Perforation/discharge
Features of Down’s Syndrome
Upslanting palpebral fissures, Epicanthic folds, Brushfield Spots, Single palmar crease Hypotonia Duodenal atresia Hirschsprung's disease Congenital heart disease Visual problems Otitis media
Genetic abnormalities in Down’s Syndrome
94% Non-disjunction
5% Robertson translocation
1% Mosaicism
Risk of recurrence of Down’s Syndrome if it is a Robertson translocation
10-15% if mother is the carrier
2.5% if father is the carrier
Risk of Down’s Syndrome if maternal age is 20
1 in 1,500
Risk of Down’s Syndrome if maternal age is 30
1 in 800
Risk of Down’s Syndrome if maternal age is 35
1 in 270
Risk of Down’s Syndrome if maternal age is 40
1 in 100
Risk of Down’s Syndrome if maternal age is 45
1 in 50 or more
Gold standard for antenatal Down’s Syndrome testing
Combined test, between weeks 11 and 13+6
Nuchal transluency (thickened in DS)
Serum beta HCG (increased)
Pregnancy associated plasma protein A (decreased)
Antenatal Down’s Syndrome testing for late bookers
Weeks 15-20 triple or quadruple tes
Alpho-feto protein
Unconjugated oestriol
Human chorionic gonadotrophin
+ Inhibin A for quadruple
Cause of rubella
Togavirus
Features of rubella
Low grade fever, headache
Maculopapular rash - starts on face then spreads to body, gone by day 3-5
Lymphadenopathy
Forchheimer spots - red spots seen on soft palate
Management of rubella
Supportive
School exclusion for 4 days after rash starts
Features of congenital rubella syndrome
Sensorineural deafness Congenital cataracts Congenital heart disease Growth retardation Hepatosplenomegaly Purpuric skin lesions 'Salt and pepper' chorioretinitis Cerebral palsy
Risk of congenital rubella syndrome
90% in weeks 8-10
Low risk after 16 weeks
What is erythema infectiosum also called?
Fifth’s disease
Slapped cheek syndrome
Cause of erythema infectiosum
Parvovirus B19 or erythrovirus B19
Features of erythema infectiosum
Low grade fever
Bright red rash on cheeks
Lace-like rash on body
URTI
Management of erythema infectiosum
Supportive
No school exclusion as not infectious after gets rash
Erythema infectiosum during pregnancy
if <20 weeks need to check maternal IgG and IgM
Risk of hydrops fetalis, intrauterine death, spontaneous abortion
Cause of mumps
Paramyxovirus
Features of mumps
May be asymptomatic Systemic - fever, malaise Parotitis Headache Facial pain
Management of mumps
Supportive
Notifiable
Infectious for 9 days after swelling starts
Complications of mumps
Orchitis - 25% of postpubertal males
Hearing loss - transient, unilateral
Meningoencephalitis
Pancreatitis
Definition of obesity in children
BMI > 98th centile
Definition of overweight in children
BMI > 91st centile
Paraumbilical hernia
Defects in linea alba
Edges well defined
Less likely to spontaneously close
Omphalitis
Infection of umbilicus
Staph aureus most common
Topical and systemic antibiotics
Can spread rapidly
Persistent urachus
Persistent urachus which attaches to bladder
Discharges urine
Associated with other urogenital abnormalities
Umbilical granuloma
Cherry red lesion around umbilicus
May bleed on contact
Purulent discharge
Persistent vitello-intestinal duct
Discharges small bowel content
Rare
Requires surgical closure
What type of vaccine is the rotavirus vaccine?
What is the theoretical risk of rotavirus vaccine?
Live attenuated vaccine
Theoretical risk of intussusception
Constipation red flags in children
From birth or first few weeks Breastfed Meconium >48 hours Ribbon stools Faltering growth Weakness in legs Abdo distension
Management of constipation
Disimpaction if needed: movicol, then stimulant, then osmotic
Maintenance: movicol, then stimulant, then osmotic
Ensure enough fluids and fibre
Management of constipation in bottle fed infants
Extra water between feeds
Abdominal massage
Bicycle legs
Management of constipation in breast fed infants
Unusual
Consider organic cause
Management of constipation in a weaning infant
Extra water, dilated fruit juice, fruit
Lactulose
Signs of faecal impaction
Severe constipation
Overflow soiling
Faecal mass palpable in abdomen
How many children will have a febrile convulsion?
3%
Risk of further febrile convulsions
1 in 3
Apyretics do not lower risk
Types of febrile convulsions
Simple
Complex
Status
Simple febrile convulsion
<15 minutes
Generalised
No recurrence in 24 hours
Complete recovery in 1 hour
Complex febrile convulsion
15-30 mins
Focal seizure
Repeat seizure within 24 hours
Febrile status epilepticus
> 30 mins
Which febrile convulsions should be admitted?
First seizure
Any features of complex seizure
What is a cephalohaematoma?
Swelling on newborns head a few hours after birth
Bleeding between periosteum and skull
May cause jaundice
Up to 3 months to resolve
What is ophthalmia neonatorum?
Infection of newborn eye
What causes ophthalmia neonatorum?
Chlamydia trachomatis
Neisseria gonorrhoeae
Management of ophthalmia neonatorum
Same day paediatric assessment
Features of acute lymphoblastic leukaemia
Lethargy, pallor Frequent severe infections Easy bruising, petechiae Bone pain Spleno/hepatomegaly Fever in 50% Testicular swelling
Poor prognostic factors in acute lymphoblastic leukaemia
Age <2 or >10 WBC >20 at diagnosis T or B cell surface markers Non-caucasian Male sex
Features of eczema in infants
Affects face and trunk
Features of eczema in young children
Affects extensor surfaces
Features of eczema in older children
Typical distribution
Flexor surfaces
Creases of face and neck
School exclusion in conjunctivitis
No exclusion
Treatment of croup
Oral dexamethasone 0.15mg/kg
Benzylpenicillin for menginococcal dose if 1-11 months old
300mg IM or IV
Benzylpenicillin for meningococcal dose if 1-9 years
600mg IM or IV
Benzylpenicillin for meningococcal dose if 10-17 years
1.2 grams IM or IV
Benzylpenicillin for meningococcal dose if an adult
1.2 grams IM or IV
Prophylactic treatment of meningitis in close contacts
Ciprofloxacin
Antibiotics for meningitis <3 months
IV amoxicillin + IV cefotaxime
No steroids
Antibiotics for meningitis >3 months
IV cefotaxime or ceftriaxone
Who is affected by infantile spasms?
Age 4-8 months
M>F
Features of infantile spasms
Characteristic ‘salaam’ attacks
Last 1-2 seconds but may repeat 50 times
Progressive mental handicap
EEG in infantile spasms
Hypsarrhythmia
CT in infantile spasms
Diffuse or localised brain disease in 70% (e.g. tuberous sclerosis)
What is Freiberg disease?
Metatarsal avascular necrosis
usually second metatarsal
Who is mainly affected by Freiberg disease?
Tall, athletic females
Usually adolescents
Features of Freiberg disease
Pain
Swelling
Stiffness
Of the affected metatarsal (usually 2nd)
Management of Freiberg disease
Limit activity, analgesia, orthotic devices
Refer if no improvement at 6 weeks
Surgery rarely needed
Recovery may be gradual and take up to 1 year
What is calcaneal apophysitis?
Swelling and irritation of growth plate in the heel
Heel pain in sporty children
Pain on squeezing heel
Also called Sever disease
What does hand dominance prior to 18 months suggest?
Cerebral palsy
Hemiparesis
Management of fever in a baby under 3 months
Refer to hospital
Full septic screen
IV antibiotics
Causes of early jaundice
Rh incompatibility ABO incompatibility G-6-P dehydrogenase deficiency Spherocytosis Infection Autoimmune haemolytic anaemia Crigler Najjar syndrome Gilbert's syndrome
Causes of jaundice 24 hours - 3 weeks
Physiological jaundice Breast milk jaundice Infection Haemolysis Bruising Polycythaemia Crigler Najjar syndrome
Causes of prolonged jaundice >3 weeks
Physiological jaundice Breast milk jaundice UTI Congenital infection e.g. CMV, toxoplasmosis Hypothyroidism Haemolytic anaemia Obstruction Biliary atresia Neonatal hepatitis
Main causes of neonatal sepsis
Group B streptococcus
Escheria coli
Risk factors for neonatal sepsis
Maternal - previous baby with GBS, GBS colonisation, bacteruria Intrapartum temp > 38 Membrane rupture > 18 hours Premature < 37 weeks Low birth weight < 2.5kg Maternal chorioamnionitis
Management of neonatal sepsis
IV benzylpenicillin + IV gentamicin
What is Epstein’s pearl?
Congenital cyst in the mouth
Spontaneously resolve over a few weeks
Inheritence of Freidrich’s ataxia
Autosomal recessive
Trinucleotide repeat
Management of threadworms in pregnant women
1st trimester - 2 weeks strict personal hygeine
2nd/3rd trimester - can use mebendazole if necessary
Inheritance of haemophilia A
X linked recessive
Inheritance of Alport’s syndrome
X linked dominant
10% cases are autosomal recessive
Inheritance of Rett’s syndrome
X linked dominant
Inheritance of vitamin D resistant rickets
X linked dominant
Inheritance of Fragile X
X linked dominant
Trinucleotide repeat
Inheritance of Huntington’s disease
Autosomal dominant
Trinucleotide repeat
Inheritance of myotonic dystrophy
Autosomal dominant
Trinucleotide repeat
Should a premature baby have their immunisation schedule adjusted for gestational age?
No, give according to chronological age
What is genu varum?
Bow legs
What is genu valgum?
Knock knees
What is the main cause of hypertension in children?
Renal parenchymal disease
Causes of hypertension in children
Renal parenchymal disease Renal vascular disease Coarctation of the aorta Phaeochromocytoma Congenital adrenal hyperplasia Essential hypertension
Which condition is associated with supravalvular aortic stenosis?
William’s syndrome
Vaccinations at birth
BCG if has risk factors
Vaccinations at 2 months
‘6-1 vaccine’ - diphtheria, tetanus, whooping cough, polio, Hib and hepatitis B
Oral rotavirus
Men B
When do children receive the Men C vaccine?
Used to be given at 3 months but has been discontinued
Vaccinations at 3 months
‘6-1’ vaccine - diphtheria, tetanus, whooping cough, polio, Hib and hepatitis B
Oral rotavirus
Pneumococcal vaccine
Vaccinations at 4 months
‘6-1 vaccine’ - diphtheria, tetanus, whooping cough, polio, Hib and hepatitis B
Men B
Vaccinations at 12-13 months
Hib/Men C
MMR
Pneumococcal vaccine
Men B
Vaccinations at 2-8 years
Annual flu vaccine
Vaccinations at 3-4 years
‘4 in 1 preschool booster’ - diphtheria, tetanus, whooping cough, polio
MMR
Vaccinations at 12-13 years
Human papilloma vaccine
Vaccination at 13-18 years
‘3 in 1 teenage booster’ - tetanus, diphtheria, polio
Men ACWY
At what ages can the rotavirus vaccine be safely given?
First dose not after 15 weeks
Second dose not after 24 weeks
Due to theoretical risk of intussusception
What type of vaccine is rotavirus?
Oral live attenuated
What age is the rotavirus vaccine given?
2 months
3 months
When is genu varum a normal variant?
Bow legs
Birth to 2 years is normal
When is genus valgus a normal variant?
Knock knees
3-6 years is normal
When is flat feet a normal variant?
Until age 3
most will resolve by age 8
What vaccines are in the 6-1 vaccine?
diphtheria, tetanus, whooping cough, polio, Hib and hepatitis B
Inheritance of sickle cell anaemia
Autosomal recessive
Epistaxis under 2 years
Uncommon - urgent referral for possible bleeding disorder
Normal observations under 1
HR 110-160
SBP 70-90
RR 30-40
Normal observations 1-2
HR 100-140
SBP 80-95
RR 25-35
Normal observations 2-5
HR 95-130
SBP 80-100
RR 25-30
Normal observations 5-12
HR 80-120
SBP 90-110
RR 20-25
Normal observations >12
HR 80-100
SBP 100-120
RR 15-20
When is Men C vaccine given?
1 year and 14 years
When is Men B vaccine given?
2 months, 4 months, 1 year
When is pneumococcal vaccine given?
3 months and 1 year
When is MMR vaccine given?
1 year and 3-4 years
When is rotavirus vaccine given?
2 months and 3 months
When is ‘6-1’ vaccine given?
2 months, 3 months and 4 months
‘4 in 1 booster’ at age 4
‘3 in 1 booster’ as a teenager
Visual problems in Down’s syndrome
Refractive errors Strabismus Cataracts Recurrent blepharitis Glaucoma
Commonest cause of hypothyroidism in children
Autoimmune thyroiditis
Causes of hypothyroidism in children
Autoimmune thyroiditis
Post total-body irradiation
Iodine deficiency
Inheritance of sick cell anaemia
Autosomal recessive
Side effect of montelukast
Nightmares
Investigations for atypical or repeat UTI in infant <6 months
Ultrasound during infection
DMSA 4-6 months later
MCUG
Cause of cystic fibrosis
defect in the cystic fibrosis transmembrane conductance regulator gene (CFTR), which codes a cAMP-regulated chloride channel
80% of CF cases are due to delta F508 on the long arm of chromosome 7
Organisms which may colonise CF patients
Staph aureus
Pseudomonas aeruginosa
Burkholderia cepacia
Aspergillus
Most common cause of inherited learning disability
Fragile X syndrome
Specific exclusion for the DTP vaccine
Unstable or evolving neurological condition
Features of pityriasis rosea
Herald patch
1-2 weeks later salmon-pink oval scaly patches in christmas tree distribution on the back
Management of pityriasis rosea
Self limiting
Resolves in 6 weeks
What is pityriasis verisocolor?
Superficial cutaneous fungal infection
Caused by malassezia furfur
Predisposing factors for pityriasis versicolor
Immunosuppression
Malnutrition
Crohn’s
Features of pityriasis versicolor
On trunk Patches may be hypopigmented, pink or brown More noticeable after sun exposure Scale common Mild pruritis
Management of pityriasis versicolor
Topical antifungal with ketaconazole shampoo
If doesn’t respond: skin scrapings, oral itraconazole
Genetics of fragile X syndrome
Trinucleotide repeat disorder
X linked dominant
Features of fragile X syndrome in males
Learning difficulty Large, low set ears Long thin face High arched palate Macro-orchidism Hypotonia Autisim Mitral valve prolapse
Features of fragile X syndrome in females
Ranges from mild to normal
How many babies are affected by cleft lip and palate?
1 in 1000
Types of cleft lip and palate
15% isolated cleft lip
40% isolated cleft palate
45% combined cleft lip and palate
Problems caused by cleft lip and palate
Feeding
Speech - 75% have normal speech with therapy
Increased risk of otitis media
Management of cleft lip and palate
Cleft lip repaired 1 week to 3 months
Cleft palate repaired 6 to 12 months
Main types of bacteria causing UTI in children
E. Coli (85%)
Klebsiella
Staphylococcus saprophyticus
Presentation of UTI in infants
Poor feeding Fever Irritable FTT Vomiting
Management of UTI in children
<3 months = admit
Upper UTI = admit
>3 months and lower UTI = oral antibiotics
Specialist investigations for UTI in children
If <6 months will need renal ultrasound, plus DSMA and MCUG if recurrent or atypical infection
Androgen insensitivity syndrome inheritance
X linked recessive
Androgen insensitivity syndrome karyotype
46 XY
What is androgen insensitivity syndrome?
End organ resistance to testosterone causes genetically male children to have female phenotype
What is congenital adrenal hyperplasia?
A group of autosomal recessive conditions causing abnormal cortisol synthesis
Most common enzyme deficiency in congenital adrenal hyperplasia
21-hydroxylase deficiency (90%)
Classical congential adrenal hyperplasia features
Severe
Non-salt losing presents in childhood with low glucocorticoids and high androgens, males present with virilisation at age 2-4
Salt losing presents in adrenal crisis in first few weeks due to aldosterone deficiency
Females have ambiguous genitalia
Non-classical congenital adrenal hyperplasia features
Milder
Later onset
Hyperandrogenism in childhood or teenage years
Females have early pubarche, infertility, hirsutism, menstrual disturbance
5-alpha reductase deficiency genotype
46 XY
5-alpha reductase deficiency interitance
Autosomal recessive
What is 5-alpha reductase deficiency?
Inability of males to convert testosterone to dihydrotesosterone
Presentation of 5-alpha reductase deficiency
Ambigous genitalia at birth
Hypospadias
Virilisation at puberty
Male pseudohermaphroditism
46 XY
Testes but external genitalia is female or ambiguous
Female pseudohermaphroditism
46 XX
Ovaries but external genitalia is male or ambiguous
True hermaphroditism
46 XX or 46 XXY
Very rare
Both ovarian and testicular tissue
Features of androgen insensitivity syndrome
Primary amenorrhoea
Undescended tests cause groin swelling
May have breast development
What is the other term for primary hypogonadism?
Klinefelter’s syndrome
Features of Klinefelter’s syndrome
Tall Lack secondary sexual characteristics Small, firm testes Infertile Gynaecomastia Learning difficulties Truncal obesity
Genotype in Klinefelter’s syndrome
47 XXY
Hormone levels in Klinefelter’s syndrome
High LH
Low testosterone
Treatment for Klinefelter’s syndrome
Testosterone replacement
Fertility treatment
What is the other name for hypogonadotrophic hypogonadism?
Kallman’s syndrome
Inheritance of Kallman’s syndrome
X linked recessive
Features of Kallman’s syndrome
Anosmia Delayed puberty Hypogonadism Cryptoorchidism Normal or above average height
Hormone levels in Kallman’s syndrome
Low LH
Low testosterone
Most common cause of diarrhoea and vomiting in children?
Rotavirus
Cystic fibrosis inheritance
Autosomal recessive
Genetics of cystic fibrosis
CFTR gene on chromosome 7
Most commonly delta F508 variant
Features of cystic fibrosis
Meconium ileus, rectal prolapse Recurrent chest infections Malabsorption = steatorrhea, FTT Liver disease Diabetes Nasal polyps Pubertal delay, short stature Subfertility
Diagnosis of cystic fibrosis
Newborn heel prick
Sweat test
Genetic testing
Colonising organisms in cystic fibrosis
Staph aureus
Pseudomonas aeruginosa
Burkholderia cepacia
Aspergillus
Management of cystic fibrosis
chest PT, postural drainage
Multivitamin, pancreatic supplement
High calorie high fat diet
Orkambi if delta 508
Features of rickets
Genu varum (bow legs) in toddlers Genu valgum (knock knees) in chidren 'Rickety rosary' - swelling at costochondral junction Kyphoscoliosis Craniotabes (soft skull) Increased infections Impaired growth
Blood tests in rickets
Low Vit D, Low calcium
High Alk phos
Wrist xray in rickets
Cupping, splaying and fraying of metaphysis
Presdisposing factors for rickets
Dietary deficiency of calcium
Prolonged breast feeding
Unsupplemented cows milk formula
Lack of sunlight
Management of rickets
Oral vitamin D replacement
When do flat feet resolve?
4-8 years
In-toeing in children
Present by 1 year
Majority will self resolve
If not may need casting or surgery depending on cause
What is genu varum?
bow legs
When does genu varum resolve?
Presents 1-2 years
Resolves by 4-5 years
What is genu valgum?
knock nees
Out-toeing - when does it resolve?
Resolves by age 2
Intervene if doesn’t resolve
Cause of acute epiglottitis
Haemophilus influenzae type B
Features of acute epiglottitis
Rapid onset High temperature Stridor Drooling of saliva 'Tripod' position
Diagnosis of acute epiglottitis
Direct visualisation by anaesthestics
Lateral view xray - ‘thumb sign’
Management of acute epiglottitis
May need intubation
Oxygen
IV antibiotics
What is Bartter’s syndrome?
Inherited cause of severe hypokalaemia due to defective chloride absorption in the loop of henle
Inheritance of Bartter’s syndrome
Autosomal recessive
Features of Bartter’s syndrome
FTT Polyuria, polydipsia Weakness Sensorineural deafness Normotension Hypokalaemia
Blood pressure in Bartter’s syndrome
Normotensive
Management of Bartter’s syndrome
Oral potassium
Potassium sparing diuretics
Triad of nephrotic syndrome
Proteinuria (>1g/m2 in 24 hours)
Hypoalbuminaemia
Oedema
Causes of nephrotic syndrome
80% due to primary glomerulonephritis
20% due to systemic disease - diabetes, SLE, amyloidosis
Main cause of nephrotic syndrome in children
Minimal change glomerulonephritis
Treatment of minimal change glomerulonephritis
High dose steroids
90% children respond
Genetics of Turner’s syndrome
45XO or 45X
Presence of just one sex chromosome OR deletion of short arm of one of the chromosomes
Features of Turner’s syndrome
Short stature Shield chest, widely spaced nipples Webbed neck Primary amenorrhoea Cystic hygroma Multiple pigmented naevi Lymphoedema in neonates (in feet) Horseshoe kidney Short 4th metacarpal
Congenital heart disease in Turner’s syndrome
15% bicuspid aortic valve
10% coarctation of the aorta
Congenital renal disease in Turner’s syndrome
Horseshoe kidney
What diseases are females with Turner’s syndrome at increased risk of?
Autoimmune thyroiditis
Crohn’s
Causes of macrocephaly
Chronic hydrocephalus Chronic subdural effusion Neurofibromatosis Gigantism (e.g. Soto's syndrome) Metabolic storage diseases Bone problems e.g. thalassaemia
Congenital toxoplasmosis
Cerebral calcifications Chorioretinitis Hydrocephalus Cerebral palsy Hepatosplenomegaly Anaemia
Congenital cytomegalovirus
Growth retardation Purpuric skin lesions Pneumonitis Sensorineural deafness Hepatosplenomegaly Anaemia Cerebral palsy
McCune Albright Syndrome
Precocious puberty
Cafe-au-lait spots
Polyostotic fibrous dysplasia
Short stature
Define precocious puberty
Development of secondary sexual characteristics before 8 years in females and 9 years in males
Classification of precocious puberty
Gonadotrophin dependent - LH and FSH raised
Gondadotrophin independent (pseudo) - LH and FSH low, excess sex hormones
Causes of precocious puberty in males
Bilateral enlarged testes = gonadotrophin release from intracranial lesion
Unilateral enlarged teste = gonadal tumour
Small testes = adrenal cause (tumour or adrenal hyperplasia)
Causes of precocious puberty in females
Usually idiopathic/familial and follows normal puberty
Organic is rare e.g. McCune Albright Syndrome
Asthma management age 5-16 STEP ONE
SABA
Salbutamol
Asthma management age 5-16 STEP TWO
SABA + low dose ICS
Salbutamol + clenil 100mcg 2 puffs BD
Asthma management age 5-16 STEP THREE
SABA + low dose ICS + LRTA
Salbutamol + clenil 100mcg 2 puffs BD + montelukast
Asthma management age 5-16 STEP FOUR
SABA + low dose ICS + LABA
stop LRTA
Asthma management age 5-16 STEP FIVE
SABA + maintenance and reliever therapy (MART) that includes low dose ICS
Salbutamol + fostair
Asthma management age 5-16 STEP SIX
SABA + MART that includes moderate dose ICS
Example of low dose ICS
Clenil 100mcg 2 puffs BD
Example of moderate dose ICS
Clenil 200mcg 2 puff BD
Example of LRTA
Montelukast
Example of MART
Fostair
Asthma management age <5 STEP ONE
SABA
Asthma management age <5 STEP TWO
SABA+ 8 week trial of moderate dose ICS
If improves and symptoms return within 4 weeks = continue low dose ICS
If improves and symptoms return outwith 4 weeks = repeat trial
Asthma management age <5 STEP THREE
SABA + low dose ICS + LTRA
Asthma management age <5 STEP FOUR
Stop LRTA
Continue SABA + low dose ICS
Refer specialist clinic
Example of LABA
Salmeterol
Features of asthma
Cough, worse at night Dyspnoea Wheeze Reduced PEFR Atopy
Spirometry findings in asthma
Reduced FEV1
Normal FVC
FEV1/FVC ratio <70%
Moderate acute asthma
PEFR >50%
Normal speech
Acute severe asthma
PEFR 33-50%
Can’t finish sentences
HR over threshold
RR over threshold
Acute severe asthma - HR criteria
> 110 if over 12
125 if over 5
140 if 1-5
Acute severe asthma - RR criteria
> 25 if over 12
30 if over 5
40 if 1-5
Life threatening asthma
Oxygen <92% PEFR <33% PaO2 <8 Normal PaCO Confusion Exhaustion Silent chest Cyanosis Hypotension, bradycardia
Steroids in acute asthma in children
Given to all children for 3-5 days
20mg OD if age 2-5
40mg OD if >5
