Paeds (Lectures) Flashcards
What investigation is not clinically useful in children <3 months with a UTI?
Urine Dipstick.
Urine MCS is needed.
What should you always do if a child <3 months presents with a fever?
Admit them.
What investigations should you carry out in a child <5 years p/w a fever?
FBC
Blood Cultures
Urine Cultures
CRP
Consider a Lumbar Puncture
Why would you always consider a LP in a febrile child <5 years, but not always in adults?
Children have a weaker Blood Brain Barrier, so are more susceptible to CNS infections.
E.g, meningitis, meningococcal septicaemia, encephalitis
What extra investigations may you do for a child presenting with:
- Diarrhoea
- Abdominal Pain
- Productive Cough
- Stool sample
- Stool sample/CRP/Lactate
- Sputum sample
Why is it important to complete a full course of IV Cefuroxime prior to swapping to Trimethoprim?
To prevent drug resistances developing.
What investigations should you consider in a young child with recurrent UTIs?
Blood glucose levels/HbA1c
US Kidneys (1st)
MCUG (Micturating Cystogram) (Gold standard)
Why would it be necessary to perform a US Kidneys in a child with recurrent UTIs?
To check for a pyelonephritis, ureteroceles or kidney damage
What is a Micturating Cystogram (MCUG)?
A contrast dye is inserted into the bladder using a catheter. Whilst a XRKUB is taken the catheter is removed, allowing the urination of the contrast. The contrast dye shows any retrograde flow of urine into the bladder, ureters or kidneys.
Or alternatively, shows normal micturition.
What common, congenital urinary tract abnormality may be found using a MCUG?
Vesicoureteral reflux
- The retrograde flow of urine from the bladder to the ureters +/- kidneys during micturition, through a faulty vesicoureteric junction.
What may a MCUG show in an infant with Vesicoureteral reflux?
MCUG showing bilateral ureteroceles, with strictures within the ureters
How does Vesicoureteral reflux cause damage?
The urine that backflows into the ureters becomes stuck after completing urination. The pooling of urine dilates the ureters and causes damage. This can build up over time causing ureteroceles or hydronephrosis. Bacteria colonises the pooled urine and causes UTIs.
How common is Vesicoureteral reflux in a healthy child?
The prevalence is estimated to be between 0.4%-2% in the general population
How common is Vesicoureteral Reflux in children with recurrent UTIs?
The prevalence can reach 30% in some populations.
How may a fever affect a child with epilepsy?
Increased number of fits and/or increased fit intensity.
Is osteomyelitis more common in adults or children? and why is this thought to be?
Children (especially 10 years and under)
In children, the metaphysis is highly vascularised, which can result in the hematogenous seeding of bacteria into the bone from nearby areas of infection.
e.g cellulitis, infected wounds
What is a common cause of osteomyelitis in adults?
Trauma with an open fracture.
What is differential diagnosis for osteomyelitis?
Septic Arthritis
What is the minimum time length of treatment for osteomyelitis?
Six weeks
A switch from IV to PO can be made, if PO can be maintained with good compliance
Why might PO Abx compliance be an issue in young children?
PO Abx don’t taste nice, so it can be hard to make children take it.
OPAT is an alternative option.
What is OPAT? (antibiotic treatment option)
Outpatient parenteral antimicrobial therapy
Patients visit hospital once weekly for an IV dose of antibiotic. Beneficial when long-term Abx courses are required where compliance is an issue.
How may a child with meningitis present?
Fever
(semi-)comatose
Purple rash on skin
What is the name of the rash often present in meningitis?
A purple, non-blanching rash
What is the difference between petechiae and purpura?
They are both types of skin rash caused by bleeding under the skin.
Petechiae are less than 0.5cm in size, purpura are greater than 0.5cm
Petechiae are often flat, whereas purpura are often larger, raised lesions.
What causes a non-blanching rash in meningitis?
DIC
What is the first line treatment for suspected bacterial meningitis or meningococcal sepsis?
IV Cefotaxime
Why is Cefotaxime preferred to Cefuroxime in meningitis, but not in UTIs?
Cefotaxime crosses the Blood Brain Barrier more than Cefuroxime, so is better for treating infections within the CNS.
Therefore, Cefuroxime is a better antibiotic for systemic infections due to this property.
What investigations should be done in suspected meningitis?
Blood cultures
EDTA blood samples for PCR analysis
(EDTA is an anticoagulant helpful in preserving samples for PCR)
Lumbar puncture for CSF analysis (Can be delayed)
When should treatment be started for suspected meningitis?
Immediately
Why may it be necessary to delay a LP?
Raised ICP -> May lead to coning
- Can be indicated by papillodema on fundoscopy
The patient may be too unstable at the time to warrant a LP.
What antibiotics may be given as prophylaxis to family members of someone with meningitis?
Ciprofloxacin or rifampicin
What must you do after confirming a diagnosis of meningitis?
Inform the local Health Protection Unit (PHE)
How many a child with pneumonia present?
Normally fit and well
Febrile
SoB
What other infections must be reported to PHE?
All meningitis, all invasive meningococcal and all encephalitis.
If a blood culture shows bacterial growth in a suspected pneumonia, what should the next investigation be?
CXR
From what week of pregnancy is a birth no longer classed as premature?
37 weeks.
What may a ‘gush of fluid vaginally’ signify at 20 weeks of pregnancy?
Prelabour rupture of membranes (PROM)
What is the chance of delivery following membrane rupture at 20 weeks gestation?
50% chance of delivery in the next 7 days.
What is a common complication of membrane rupture?
Chorioamnionitis
What is Chorioamnionitis?
Bacterial infection of the:
Chorion,
Amnion,
Or amniotic fluid around the fetus
(Or all of the above)
What are symptoms of Chorioamnionitis?
Maternal fever
Maternal or fetal tachycardia
Pelvic soreness
Cervical drainage
Foul smelling amniotic fluid.
How can the risk of chorioamnionitis be reduced following PROM?
Erythromycin for 10 days.
From what age are premature babies resuscitated?
22 weeks
Survival rates in neonates sub 23 weeks are low (30% at Jessops). What intervention can be given in the perinatal period to improve this possibility?
12mg betamethasone, 24hrs apart. Hopefully up to 24 hours before delivery.
What is the trend in the possibility in being discharged alive from the neonatal unit in babies born at 23 weeks?
The more days spent in the NICU, the higher the probability of survival to discharge.
30% of survival on day 1, raising to ~90% by day 50 and almost 100% by day 100.
If given to the mother within 24hrs prebirth, what can be given as neuroprotection to give a 30% reduction in risk of cerebral palsy?
IV MgSO4
Approximately what percentage of newborn infants require admission for neonatal care?
10%
Approximately what percentage of newborns require full intensive care?
3%
What are the 3 mainstays of fetal wellbeing?
Is the fetus moving?
What is the size of the fetus? (steady increase in bump size in comparison to term length)
Heartbeat and fetal bloodflow
How can the heartbeat of a fetus be easily checked?
Auscultation
How can fetal bloodflow be assessed?
Doppler US
What is classed as a very low birth weight?
<1500g
What is classed as extremely low birth weight?
<1000g
What is classed as incredibly low birth weight?
<750g
What is the purpose of surfactant?
Allows breathing without alveolar collapse using water tension.
Where is surfactant stored until birth?
Type II Pneumocytes.
From what week does alveolar development occur?
Week 24, exponentially.
When does Alveolar development stop?
From birth, regardless of term length.
What is a common pulmonary condition in prematurely-born people?
Chronic lung disease of prematurity.
Chronic lung disease is common in people born prematurely, why?
Alveolar development stops from birth, so if a baby is born prematurely then they will not have formed the same number of alveoli as a full term baby. This reduces the surface area for gaseous exchange in the lungs, leading to a chronic lung disease for life.
From when is surfactant produced?
It begins around 26 weeks.
Where is surfactant produced?
The endoplasmic reticulum of type II pneumocytes.
What is a common mode of death in infants <24 weeks premature?
Respiratory Distress Syndrome. Lack of alveolar gaseous exchange facilities.
What can worsen lung damage in neonates?
High dose oxygen
Sepsis
Ventilation
How may Respiratory Distress Syndrome appear on the CXR of a neonate?
Absence of clear heart and diaphragmatic borders.
Diffuse, white opacity in the lung fields.
Why do the lung fields appear with diffuse white opacity in CXRs in Respiratory Distress Syndrome?
There are no/minute amounts of alveoli in the lungs, so there is no place for air in the lungs. Air appears black on an xray, the tissue occupying the space appears white.
When does the brainstem become myelinated?
32-34 weeks
What is a neuro-respiratory complication of being born <32-34 weeks?
Apnoea of prematurity.
It is not uncommon to ‘forget’ to breathe and is frequently associated with bradycardia.
What can worsen apnoea of prematurity?
Sepsis.
How can Apnoea of prematurity be treated?
NCPAP
Respiratory stimulants (analeptic drugs)
- Under expert supervision in hospital only.
Phospodiesterase inhibitors - sildenafil
Give an example of an analeptic drug.
Caffeine citrate - reduces the frequency of neonatal apnoea and the need for mechanical ventilation during the first 7 days of treatment.
What respiratory stimulants can be used to prevent respiratory distress syndrome in neonates.
One cause of RDS in neonates can be due to the birth before surfactant has been made, thus it cannot be released
Pulmonary surfactants derived from animal lungs can be given to prevent and treat RDS
- Beractant
- Poractan alfa
What can be a cause of an overly enlarged skull in newborns?
Ventricular Haemorrhage.
What percentage of babies <32 weeks have small ventricular bleeds?
Around 14%
What percentage of babies <32 weeks have large ventricular bleeds?
Around 6%
White opacities on the scans indicate blood.
Why is a small ventricular bleed not as detrimental as a large ventricular bleed in neonates?
Blood in the ventricles in a neonate only occupies the space that CSF will eventually occupy (not made until 35th week), so its presence is not the issue.
The issue lies with a large volume of blood being present within the ventricle and NOT within the circulating volume.
The total volume of blood in a neonate is 80mls/kg, so having a large bleed of even only 10mls will remove a significant amount of the total circulating volume, leaving the baby extremely anaemic and with sufficient blood for organ perfusion in the early stages of life.
What percentage of babies have a normal brain US <32 weeks?
80%
What is a relatively uncommon finding in babies brains at <32 weeks?
Cystic Periventricular Leukomalacia
~5%
What is Cystic Periventricular Leukomalacia?
The presence of cysts that have developed in the periventricular white matter.
These cysts interrupt the cerebrospinal pathways descending from the primary motor cortex through the internal capsule around the thalamus, an UMN lesion.
The handicap depends on the location and number of cysts - disability can range from monoplegia of a single limb or area to spastic quadraplegia.
What is the optimal method of newborn feeding?
Breastfeeding.
Why are premature babies support with IV fluids and parental nutrition instead of breastfeading?
The ability to suck and swallow starts from 32-34
Why are high levels of UNconjugated bilirubin dangerous in neonates?
It causes Kernicterus.
What can cause high levels of UNconjugated bilirubin in neonates?
Haemolysis
Prematurity
Sepsis
Dehydration
Hypothyroid
Various Metabolic disease
How can high levels of UNconjugated bilirubin be treated?
Phototherapy (blue light, 450nm)
Or exchange transfusions.
Old wives tale used to say ‘if a newborn is born yellow put them on a window ledge in the sun and it will get rid of the yellow and prevent disability. - its true :)
What is Kernicterus?
A brain dysfunction or damage that happens in the perinatal period due to high levels of UNconjugated bilirubin.
It can cause:
Cerebral Palsy,
Hearing and vision loss,
Dental problems,
Intellectual disabilities.
It is rare, but preventable.
Are high levels of conjugated bilirubin in neonates a worry?
No
What can cause high levels of conjugated bilirubin in neonates?
Prolonged parenteral nutrition,
Sepsis
NEC
Anatomical issues
When does jaundice in a neonate need to be investigated?
If it lasts longer than 3 weeks.
What pathological finding can be seen in deceased infants with high UNconjugated bilirubin levels?
Yellow staining of the basal ganglia.
If they had survived, they would have lifelong terrible movement disorders.
What is the most common gastrointestinal emergency in newborns?
Necrotising enterocolitis (NEC)
What is NEC?
A condition characterised by ischaemic necrosis of the bowel, mainly the terminal ileum and colon - although it can affect the whole GI tract - leading to perforation and massive abdominal infection
What can cause NEC?
Inflammation of the bowel in response to infection
Disruption of bloodflow to the bowel
How can NEC be treated?
IV fluids and TPN,
NG to remove stomach contents,
Complete bowel rest to allow the GI tract to heal,
Surgery may be necessary to repair the intestines.
What can reduce the incidence of NEC?
Breastfeeding/Breast milk
Why is sepsis more common the more premature the infant?
Active IgG transfer from the mother occurs in the last 3 months of gestation - The more premature, the less IgG transfer can occur.
Premature infants often have many invasive procedures, increasing the likelihood of infection.
Why might fungal sepsis occur in a premature newborn?
As a result of many courses of antibiotics wiping out normal flora, creating a fungal-friendly environment.
What is a potential complication of Hyperoxic insult in premature infants?
Retinopathy of prematurity
What can retinopathy of prematurity lead to?
Retinal haemorrhage -> retinal detatchment -> Blindness
(reason Stevie Wonder is blind)
Why is blindness as a result of retinopathy of prematurity now rare and largely preventable?
Ophthalmologists routinely screen premature infants for it - anti endothelial growth factor can be injected into the vitreous fluid if it is suspected to prevent abnormal vascular growth in the retina.
What are the 3 core symptoms of ADHD?
Inattention
Impulsivity
Hyperactivity
Many children will have these at times, but persistence that impacts daily life is ADHD
Describe the epidemiology of ADHD.
5% of school aged children
M:F = 4:1
Describe the aetiology of ADHD.
Genetic and environmental.
Neuroanatomical and neurochemical factors.
CNS insults e.g. FAS or premature.
ADHD core behaviours: give 3 signs of hyperactivity.
Fidgety.
Talkative.
Noisy.
Can’t remain seated.
ADHD core behaviours: give 3 signs of impulsivity.
Blurts out answers.
Interrupts.
Difficulty waiting turns.
When older, pregnancy and drug use.
ADHD core behaviours: give 3 signs of inattention.
Easily distracted.
Not listening.
Mind wandering.
Struggling at school.
Forgetful.
Organisational problems.
Describe the treatment for ADHD.
Education.
Parenting programmes and school support.
Medications e.g. methylphenidate
Why is it important to do a cardiac assessment before prescribing medications to help treat a child with ADHD.
Some ADHD medications can affect HR and BP and so it is important to do a cardiac assessment first.
Describe the epidemiology of ASD.
1% prevalence.
Boys>girls.
Give 4 signs of ASD.
Communication problems.
Social interaction difficulties.
Social imagination difficulties.
Sensory issues.
What proportion of <16yrs have epilepsy?
1/200
0.5%
What percentage of all school aged children have epilepsy?
0.7-0.8%
What is the misdiagnosis rate of epilepsy in children?
30%
What percentage of kids with epilepsy have well controlled epilepsy?
70%~
What percentage of kids with epilepsy have continuing seizures despite treatment?
25-30%
What percentage of kids with epilepsy have significant seizures that affect daily life and function
~5%
Give an example of a CVS cause of a non-epileptic seizure in young children.
Reflex Anoxic Seizures (RAS)
What is RAS? (Reflex Anoxic Seizures)
A neurocardiogenic cause of non-epileptic seizures that can occur at any age, but mostly in 6months-2 year olds. A sudden pain or emotional stimulus causes an infant to be ‘shocked’ and start to cry. They start to hold their breath and become anoxic, causing a seizure.
What is the prognosis for RAS?
It is not life threatening as they will begin to breath again shortly after losing consciousness and seizing. Most will grow out of it with age.
How common is RAS?
~8/1000 children, 4% of seizures <5yrs.
How may a <3months old present with a UTI?
Fever
Irritable
How may a urine sample be collected in <3months old?
Cotton wool in nappies to soak up urine (not ideal)
External collection bag (Okay but can leak easily and not easy to attach)
Catheterise and collect a sample (Good)
Suprapubic aspirate (Gold standard - although it is never done, catheter method instead)
What congenital renal abnormalities may you find on an US/MCUG?
Horseshoe kidney
Duplex kidney
What is a horse shoe kidney?
Where ‘both’ kidneys are connected in the shape of a horseshoe
What is a duplex renal defect?
An extra ureter coming from a kidney.
Name a congenital, post-bladder outflow obstruction found in males that can cause urinary reflux.
Congenital (/posterior) intraurethral valve
A membrane found in the urethra of some males than cause narrowing or blockage of the urethra.
What is the most common cause of nephrotic syndrome in children?
Minimal change disease (/nephropathy)
What is the most common cause of nephrotic syndrome in adults?
Membranous glomerulo-nephropathy.
What is IgA GN associated with?
IgA vasculitis - causes IgA deposition in the glomerulus resulting a nephritic syndrome
What is henoch-schonlein purpura?
A skin vasculitis disorder, causing a non-blanching, purpuric rash and IgA deposition around the body (kidneys, joints). More common in children.
What is faltering growth?
Failure to gain adequate weight or achieve adequate growth during infancy or early childhood
A significant interruption in the expected rate of growth compared with other children of similar age/sex (centiles).
What do you do first if suspecting faltering growth?
Weigh the infant/child
Measure their length (birth to 2 yrs)
OR height (>2yrs)
Plot these on the UK WHO growth charts to assess weight change & linear growth over time
Is it common for neonates to lose weight in the early days of life?
Yes - neonates will lose weight in the first days of life and usually stops around 3-4 days of life.
Most infants have returned to their birth weight by 3 weeks of age.
When should you be worried that a newborn has lost too much weight in the early days of life?
More than 10% of their birth weight.
Perform a clinical assessment and history to assess feeding with/w/ direct feeding observation
Further invs only if indicated.
Offer feeding support (appropriatley trained persons)
What do you initially do in children >2 yrs which you are concerned about growth?
Calculate the BMI and BMI centile
Give four medical risk factors for faltering growth.
Congenital abnormalities (cerebral palsy, autism, T21)
Development delay
Gastroesophageal reflux
Low birth weight/prematurity
Poor oral health
Give four psychosocial risk factors for faltering growth.
Disordered feeding techniques
Family stressors
Parental/FHx of abuse/violence in the house
Poor parenting skills
Poverty
Give four potential examination findings of faltering growth.
Dysmorphic appearance (genetic/undiagnosed syndrome)
Oedema (renal/liver disease)
Hair colour/texture (zinc deficiency)
Heart murmur (cardiac defect)
Wasting (neuro, cerebral palsy?)
What can result in faltering growth?
Energy balance mismatch
What are the four main areas causing energy balance mismatches?
Not enough food in
Not enough absorbed
Too much energy used
Abnormal central control of growth/appetite
Give 3 examples of not enough food in in children.
Ineffective feeding
Feeding aversion
Physical disorders affecting feeding
Give examples of ineffective feeding in children.
Ineffective suckling
Ineffective bottle feeding
Poor feeding patterns/routines being used
Physical disorders that affect feeding
Give 2 examples of causes for feeding aversion in children.
Gastroesophageal reflux (Common)
Dental carries
History of abuse by feeder
How can gastroesophageal reflux cause feeding aversion?
It is one of the commonest presentations for <1yr olds.
If the baby feeds on only milk, then reflux is usually not an issue as the stomach contents are quite neutral due to alkaline nature of milk - most infants will have reflux of some form.
If the stomach contents are more acidic with reflux, this causes a burning sensation and pain (heartburn) in the infant.
The infant is unable to communicate this to the parent/feeder, and begins to associate feeding with this pain.
The infant will refuse to feed out of fear of burning pain.
Why is gastroesophageal reflux common in infants?
Like most of the body’s systems in an infant, the GI tract is quite immature at birth, reflux-preventing sphincters may be incompetent and lead to reflux, especially if laying down after feeding or consuming large amounts of food.
Is reflux in an infant worrying?
No - most will grow out of it as their GI tract develops.
How can dental caries cause feeding aversion?
The same as reflux, except the pain is caused by food in the mouth touching sensitive dental carries.
What investigations may be done in feeding aversion?
Upper GI endoscopy - look for congenital abnormalities that could affect feeding
pH studies - pH probes at varying levels of oesophagus to determine if pH is abnormally high due to bad reflux.
What interventions may be used in children with serious concerns of faltering growth?
MDT review
Enteral tube feeding
Gastrostomy
Aim of reversing all interventions as they grow older and become increasingly tolerable of oral intake of solids.
Give four examples of insufficient food absorption in children.
Coeliac disease
Anaemia (iron def, b12/folate - pernicious)
Biliary atresia
Chronic GI conditions (infections, IBS)
Milk protein allergy
Cystic Fibrosis
What is the most common cause of iron deficiency anaemia in children?
Drinking lots of cows milk.
Is all coeliac disease damaging to infants?
No - ‘Coeliac Iceberg’
What is cow milk protein allergy?
An allergic response to a protein in cows milk causing:
Rash on face (eczema)
Irritated
Pruritus
Vomiting
Lip/tongue swelling
Iron deficiency anaemia
What alternative can be used in cows milk protein allergy?
Pasteurised milk instead of formula (amino acids formula if symptoms persist)
Nutragen
Give four examples of too much energy use (Increase metabolism) in faltering growth.
Chronic infections (HIV, TB)
Chronic lung disease of prematurity
Congenital heart disease
Hyperthyroid
Inflammatory conditions (asthma, IBD)
Give an example of an inflammatory cause of faltering growth.
Crohn’s disease
Give some features of Crohn’s disease.
Can affect the whole GI tract
Ulcers (commonly mouth but anywhere in GI tract)
Intermittent loose stools
Weight loss and poor appetite
Raised inflammatory markers
Give 3 causes of abnormal growth control.
RARE CAUSES
Growth hormone pathologies
Thyroid dysfunction
Psychosocial influence
Should you admit infants/children with faltering growth?
Generally, no.
Only admit if acutely unwell or there is a requirement for admission to begin a new treatment plan - eg plan to begin tube feeding
What is the most important hormone for growth of neonates (<28days)?
Thyroid hormone
What can low thyroid hormones in neonates cause?
Cretinism - ‘to be a cretin’
Congenital iodine deficiency syndrome - CIDS
What can cause cretinism?
Congenital iodine deficiency syndrome - CIDS
Low iodine in pregnancy/neonatal dietary iodine causes a lack of thyroxine. Low thyroxine causes the excessive release of TSH, which stimulates the thyroids functions.
How may an infant with cretinism present?
Lethargy
Feeding difficulties
Constipation and jaundice
Impaired physical and mental development
Periorbital oedema
As a child grows, how does its body proportions change?
Body surface area to weight ratio decreases
Limbs grow in size quicker than the body trunk
What is a sign of hypochondroplasia/achondroplasia?
Short limbs
What may long legs and a short back be a sign of in a child?
Delayed puberty.
What is the most likely cause of a sudden increase in head circumference in a neonate?
Abnormal intracranial pressure caused by an intracranial bleed.
The fontanelles and cranial sutures are not yet fixed in a neonate, so a bleed may increase the ICP and push the bones outwards more. This could lead to hydrocephalous in the future and the space occupied by the blood may never shrink.
What should you say at the end of a paeds osce to look smart?
I would also like to plot height, weight and head circumference on an age appropriate growth chart.
What are growth charts?
A graph where you can plot length, weight, age and familial stature facts.
Why are growth charts considered to be flawed?
They are outdated (humans are bigger now than when they were developed)
They are based on white children from the UK
Different charts for boys and girls are used
What may a familial short stature indicate?
The child is likely to grow into a small build (be short)
How may a constitutional delay in puberty/growth affect height?
Likely to have a late growth spurt.
What is height velocity?
The rate at which heigh increases.
Heigh velocity = change in height/years between measurements
Describe the Hypothalamic - Pituitary Axis (HPA).
When is puberty considered to have started in males?
When a testicular volume of 4mls is reached.
When is puberty considered to have started in females?
Thelarche
- Beginning of breast development (breast bud noted/palpable, enlargement of areola)
How can hypogonadism be categorised?
Primary - problem arising in the gonads
Secondary - problem arising in the pituitary
Tertiary - problem arising in the hypothalamus
Give two examples of primary hypogonadism.
Klinefelter’s syndrome
Turner’s syndrome
What is klinefelter’s syndrome, and how may it present?
47 XXY, affecting 1/1000 males (often underrecognised)
Tall stature and osteoporosis,
Azoospermia and gynaecomastia,
Reduced secondary sexual hair
Reduced IQ in 40% of cases
What is a possible complication of gynaecomastia in Klinefelter’s syndrome?
A 20-fold increased risk of breast cancer.
What is Turner’s syndrome, and how may it present?
A syndrome affecting growth and pubertal development.
Short stature, neck webbing, broad chest and small mandible
Oedema of the hands and feet at birth
CVS malformations are common
Renal malformations are common (horseshoe kidney)
Recurrent otitis media is common
How else may primary hypogonadism be described?
Hypergonadotrophin hypogonadism
High GnRH low sex hormones
Give some examples of secondary/tertiary hypogonadism.
Intracranial tumours (eg pituitary)
Chemo/radio therapy
Prader Willi syndrome
Trauma
Malnutrition
Marijuana
What is precocious puberty? (PP)
‘True’ precocious puberty is early puberty (<8yrs female,<9yrs male).
It affects 1/5000-10 000 people.
90% of cases are female
Is ‘true’ precocious puberty a problem?
No
What is precocious pseudopuberty? (PPP)
Gonadtropin-independent production of excess sex hormones.
Often produced from the gonads, the adrenal glands or other ectopic or exogenous sources
THINK neoplasms.
Give two causes of precocious pseudopuberty in females.
Ovarian Cysts - most common
- functioning follicular cysts can secrete oestrogen and can present as premature thelarche. Vaginal bleeding may also occur after cysts degenerate.
Ovarian Tumours (granulosa cell, Sertoli/leydig cell, gonadoblastoma) - granulosa cell most common sex cord tumour in girls, and associated with excess oestrogen production (isosexual PP). Others named can lead to androgen production and contrasexual PP
Give two causes of precocious pseudopuberty in males.
Leydig cell tumours - most common testicular cord-stromal tumour, associated with excess testosterone production - presents in asymmetrical testicular growth and PP betwen 6-10yrs
Human Chorionic Gonadotropin-Secreting (hCG) tumours - excess hCG production from testicular tumours and ectopic sites, leading to PPP in boys.
Give some common ectopic sources sites of sex hormones.
Pineal gland
Mediastinum
Liver
Retroperitoneum
Adrenals
What may a positive pregnancy test in males be a sign of?
hCG secreting tumours!!
What is bone age a marker of?
Skeletal maturity
What can delayed bone age be a sign of?
GH deficiency
What can advanced bone age be a sign of?
Precocious puberty
What is the biggest exertion for babies?
Coordinating breathing with feeding.
- their equivalent of a jog
“Are they panting/sweaty/SoB when feeding?”
What may this growth chart suggest?
Child abuse at home - growth rate normal whilst in care but severely drops when the infant is at home.
Usually seen over age 3
What are two common neurological problems in children?
Migraines/headaches
Epilepsy
What are cerebral palsies?
A Group of developmental disorders of movement and posture.
Give four ways movement and tone can be affected in cerebral palsies.
Spastic
Ataxic
Hypotonic
Dystonic
Give 3 groups that cerebral palsies can be categorised into which describe the distribution of the palsy.
Monoplegic
Hemiplegic
Quadraplegic
What can vary between people with a cerebral palsy?
The severity.
What is a common co-morbidity in cerebral palsies?
Epilepsy.
Can cerebral palsies progress?
Yes - The palsy can ‘progress’ with age as new functions cannot be obtained unlike in people without cerebral palsies.
What is a rare but life threatening complication of a dystonic cerebral palsy?
Status dystonicus (niche)
What is status dystonicus?
A rare but life threatening movement disorder emergency, mainly triggered by infections and medication adjustments.
Characterised by the development of increasingly frequent or continuous severe episodes of generalised dystonic spasms or spasticity.
(widespread and severe muscle contractions, causing abnormal posturing, repetitive twisting motions or both)
(Niche)
How can status dystonicus be managed?
Very rare with few reported cases, so varying treatments used to varying success and failure.
Identify the trigger and adapt current healthcare plans.
IV fluid resuscitation,
Sedation in HDU/ICU is most effective immediate management.
Intrathecal baclofen has been tried to varying levels of success
What can intrathecal baclofen be used to manage in adults?
MS
How many swallowing issues in a cerebral palsy be managed?
PICC line to PN/TPN
How many over production of secretions in cerebral palsies be managed?
Injection of Botulinum toxins (BoTox) into the salivary glands.
What are the 3 areas in the aetiology of cerebral palsy?
Pre-natal
Peri-natal
Post-natal
What period of life are cerebral palsies most likely to occur?
Between 24 weeks gestation and birth (peri-natal)
Give 3 Pre-natal causes of cerebral palsy.
Preterm birth
Infections
Genetic components
Give 3 Peri-natal causes of cerebral palsy.
Amnionitis
Meningitis
Encephalitis
Give 3 post-natal causes of cerebral palsy.
Stroke
Traumatic Brain Injury
Hypoxic Ischaemic Encephalopathy
What are the 4 main areas of focus in cerebral palsy management?
Musculoskeletal Management
Medical Management
Surgical Management
Feeding Management
Give 3 methods of MSK management in cerebral palsy.
Positioning/posturing training
Splinting joints/limbs
Casting joints/limbs
Give 3 methods of medical management in cerebral palsy.
Anticholinergics - spasm control
Diazepams - spasm control
Botulinum toxins - excessive secretion production
Baclofen - severe spasticity management
Give 3 methods of surgical management in cerebral palsy.
Tendon lengthening
Dorsal rhizotomy (selective surgical cutting of problematic nerve roots in the spinal cord)
Intrathecal baclofen pump implantation
Give 2 methods of feeding management in cerebral palsy.
Nutritional assessment with dieticians
PEG feeding
Give 3 examples of cerebral palsy masquerades.
Spinal dysraphism (spina bifida)/occult spinal cord
Segawa disease (GTPCH1-deficient dopa-responsive dystonia (GTPCH1-DRD) - can live a near normal life)
Hereditary spastic paraplegia
Give four types of seizures.
Focal
Asbcent
Myoclonic
Tonic clonic
What is rolandic epilepsy?
The most common focal onset of epilepsy
Facial or perioral onset with secondary generalisation
EEG shows centroltemporal region spikes
What is childhood absence epilepsy?
A brief arrest of speech and activity.
It often has post-ictal confusion, as they do not recall the event.
It could be an explanation for academic failure
EEG may show 3Hz spikes and slow wave activity.
What investigations may be done in an epilepsy work up?
EEG - poor predictive value unless done during an episode
Imaging - required in the absence of obvious aetiology
Karyotyping
Further metabolic and neurometabolic workup
How can epilepsy be managed?
Anti-epileptic drugs (eg sodium valporate, levetiracetam (Keppra), phenytoin, carbamazepine)
Epilepsy surgery - if any area of the brain can be proven to be the exact location causing focal seizures it can be removed if it would improve QoL.
Vagal-nerve stimulation - if patient has an aura it can be activated to abort seizures
Counselling and daily life advice
How can a headache be classified?
Acute or chronic.
Give causes of an acute headache.
Common:
- Illness with fever
- Meningitis
- Trauma
Rare:
- SAH bleed
- Intracranial AVMs
- Space occupying lesions, tumours
Give causes of chronic headaches.
Common:
- Tension
- Migraine
- Poor lifestyle (lack of sleep, increased screen time, stress etc)
What are Red Flags for headaches?
New, sudden onset
Thunderclap/worst ever
Young child <7yrs
Neurological symptoms
Hx of developmental delay
How can headaches be managed?
Lifestyle changes - better sleep, food, fluids, exercise, decrease stress
Pharmacological (mainly migraines) - analgesics, triptans, topiramate, propranolol
Imaging/LP - look for cause/opening pressure of LP
Give 2 examples of Dystrophinopathies.
Duchenes Muscular Dystrophy (DMD)
Beckers
What is DMD?
A progressive degenerative neuromuscular condition
X-linked recessive (Xp21.2) - mutation in the dystrophin gene.
Muscle weakness typically starts from age 2-3yrs.
May have chronic lung disease later in life due to muscle weakening in respiratory muscles.
What sign may be seen in dystrophinopathies?
Gower’s sign - climbing up themselves.
What treatments are available for DMD?
Corticosteroids
Supportive treatment
Atalauren (restores ability to synthesise dystrophin)
Gene therapy in the future.
What is Wilson’s disease?
A movement disorder characterised by a tremoring/worsening hand coordination, caused by abnormal copper retention and deposition in the body.
May have depression or anger outbursts
Kayser-fleischer rings are golden rings visible in the iris, caused by copped deposition.
What is chorea?
A movement disorder/dyskinesia characterized by rapid, jerky involuntary movements.
What is Sydenham’s chorea?
An autoimmune chorea caused by group A streptococcus infection (rheumatic fever)
Sometimes called rheumatic chorea.
What is a classic feature of Sydenham’s chorea?
Milkmaid grip.
What can cause chorea?
Vascular disease of the basal ganglia.
What is diabetes?
A chronic, metabolic disease characterised by elevated blood glucose.
Describe the normal function of the pancreas and liver in the homeostasis of glucose.
Give 5 types of diabetes.
Type 1
Type 2
Gestational diabetes
MODY
Neonatal
LADA (latent autoimmune diabetes in adults (type 1 1/2)
Describe the aetiology of type 1 diabetes.
An autoimmune disease causing destruction of the insulin producing beta cells in the pancreas. Associated with HLA types DR3 and DR4.
What is the estimated prevalence of Type 1 diabetes?
204.5/100 000 (Eng+wales)
What ages are the two peaks of incidence of Type 1 Diabetes?
4-5yr olds
10-11yr olds
What are the common presenting symptoms of Type 1 diabetes?
Polyuria
Polydipsia
Weight loss
Tiredness
(4Ts - toilet, thirsty, tired, thinner)
What time of year are Type 1diabetes (and LADA) presentations most common?
Around christmas.
Lots of social gatherings occur at this time of year and viral infections typically spread more around this time of year.
Viral infection can trigger the autoimmune response that causes diabetes.
What are some risk factors for type 1 (And LADA) diabetes?
FHx
Genetics
Geography and environment
Age (young)
How many T1DM present in an emergency case?
DKA - or may present compensating.
If suspected, the diagnosis shouldn’t be made based on waiting for HbA1c or OGTT.
What is the incidence of T2DM in children?
Low, but rising.
In 2000 there were no recorded cases of T2DM in children, in 2015 there were 0.72/100 000. In 2020/21 973 cases had been reported according to NPDA (national paediatric diabetes audit).
What are common co-morbidities often found at diagnosis of T2DM?
HTN (44%)
Kidney disease (25%).
What is a possible finding in obese children that is associated with diabetes?
Acanthosis Nigrans - a sign of insulin resistance development.
Give 4 risk factors for childhood type 2 diabetes.
Obesity
Non-white ethnicity
Deprivation
More common in girls
What are two diagnostic tests for type 2 diabetes?
Symptoms +:
Random venous plasma glucose >/= 11.1mmol/l, OR
Fasting plasma glucose >/= 7.0mmol/l, OR
Oral glucose tolerance test (OGTT)
Why is HbA1c not a diagnostic test?
A value of 48mmol/mol is the lowest cut off point for diagnosing diabetes. However a value of <48mmol/mol does not exclude diabetes diagnosed using glucose tests.
What is the HbA1c range for pre-diabetes?
42-48mmol/mol
What are pros and cons to continuous glucose monitoring (CGM)?
They are good, but not as good as a finger prick as they measure the glucose levels in surrounding interstitial fluid not the blood.
You can connect your phone and monitor/receive notifications if the glucose levels are high or low.
What is the initial management for T1DM (not in DKA)?
Sub-cut insulin:
- 0.5-0.8 units/kg/day
- ~50% given as long acting insulin
- ~50% as rapid acting for meals (10% breakfast, 20%
for lunch and tea)
What is the treatment for T1DM in acute DKA?
Fluids - must rehydrate
Insulin - ~1-2hrs after fluids, stops ketone production
Monitor glucose levels (hourly) and electrolytes - K+ and ketones - (24hourly)
Maintain a strict fluid balance and have hourly neuro observations.
New diagnosis bloods
How may someone present in DKA?
Confused/decreased GCS
Acute abdomen pain
Kussmaul breathing
Clinically dehydrated
N+V
Hyperventilation - compensation attempt
What are the life threatening complications of DKA?
Cerebral oedema
Shock
Hypokalemia
Aspiration (N+V with hyperventilation and Ks breathing increases risk)
Thrombus
How can the life threatening complications of DKA develop?
What is classed as SEVERE DKA?
pH < 7.1
OR
Plasma bicarbonate <5mmol/l
What is the management for T2DM?
Lifestyle changes to improve prognosis - activity, sleep
Diet changes - calorie/carb reduction, weight loss
Metformin +/- insulin therapy
Consideration of GLP-1 agonists:
- Liraglutide (>10yrs)
- Semaglutide (>18yrs)
What 2 types of symptoms may someone in hypoglycaemia present with? Give examples
Autonomic:
- Irritable
- Hungry
- Shaky/sweaty
- Palpitations
Neuroglycopenic:
- Confused/drowsy
- Hearing/visual problems
- Headache
- Slurred speech/unusual behaviour
- Coma/seizures
What is the management for someone in hypoglycaemia?
Check blood glucose to confirm:
- If able to swallow, then glucose tablets/food with high rapid absorbable sugars eg lucozade
- If unable to swallow, glucose gel on gums
Check blood glucose again in 15mins
Follow with long acting carbs
What percentage of GP consultations are ENT related in winter months?
50%
Which embryological layer does the pinna (external ear) develop from?
The mesoderm
- 6 hillocks of His
What is the function of the pinna?
For determining the direction of sound, and concentrating mid-range sound into the ear canal
(Voice is a midrange sound)
What is an anaplastologist?
Someone who makes maxillo-facial protheses.
Why is the eardrum hard to appreciate on an otoscope?
The eardrum is 3D, not flat like it is shown on an otoscope
The eardrum sits at an angle.
What 3 main areas of the tympanic membrane should you be able to visualise and describe?
Cone of light
Malleus
Maybe Incus
Give 5 visible congenital abnormalities of the ear.
Anosia - no ear
Microtia - an ear, but varying degrees of malformation
Pre-auricular sinus
Accessory auricles
Prominent ears
How many grades of microtia are there?
4
Are pre-auricular sinuses dangerous?
Harmless, if you have them bilaterally the child may have Branchio-oto-renal syndrome (niche)
Are accessory auricles dangerous?
No - body just tried to grow ‘extra ear(s)’
Are prominent ears dangerous?
No - although they can cause psychological damage to children about their appearance.
What could outer or middle ear issues cause?
Conductive hearing loss
- Problems getting sound through the ear into the cochlear
What could inner ear issues cause?
Sensorial hearing loss
- Problems processing sound
Name a middle ear abnormalities that could cause varying degrees of conductive hearing loss.
Abnormal ossicles.
- Disruption of sound amplification mechanisms
Can be present in craniofacial syndromes
What can a malformed inner ear cause?
Profound sensorial hearing loss. (dont need examples)
egs
Scheibe (cochleosaccular) dysplasia
Mondini (cochlear) dysplasia
Bing-Siebenmann (vestibulocochlear) dysplasia
Michel aplasia (complete labyrinthine aplasia)
Very niche
What is Otitis Externa?
A painful, inflammed EAM +/- Pinna involvement
(outer ear infection)
Treated with microsuction and topical antibiotics
What is Otitis Media?
An infection of the fluid in the middle ear (secreted normally from respiratory epithelium goblet cells).
It will affect ~90% of children at some point.
It is often painless, but can be suddenly painful if perforation of tympanic membrane.
Normally self-limiting.
What is the usual cause of Otitis Media?
Eustachian tube dysfunction.
What is the function of the Eustachian tube?
Regulate air pressure behind the ear drum.
Name an antibiotic that is Ototoxic (to inner ear).
Gentamycin
What is gentazone?
Gentamycin + steroid
When is Otitis Media considered chronic?
Otitis media effusion (OME) persistant >3/12
What is a potential complication of chronic otitis media?
Mastoiditis
What is chronic otitis media effusion also known as?
Glue ear
What are 4 causes of a chronically discharging ear?
Perforation (dry vs active)
Retraction pockets
Chronic supparative otitis media
Cholesteatoma
What is a cholesteatoma?
An abnormal skin cell growth usually found in the middle ear (can be in the mastoid)
What are the symptoms of a cholesteatoma?
Repeat infections
Offensive discharge
Perforation
White material on the tympanic membrane (keratin).
What is the treatment for a cholesteatoma?
Surgical fix - removal
What are the risks of an untreated cholesteatoma?
It can become infected and erode into nearby structures.
- Deafness (cochlear/inner ear erosion - permanent)
- Facial nerve palsy (erodes into nearby facial nerve -
permanent) - Intracranial abscesses (erosion upwards into cranium
through ethmoid plate or from mastoid - treatable
but usually cause permanent damage)
What does cholesteatoma literally mean?
Greasy tumour
What % of cholesteatomas are congenital/acquired
90% acquired - usually in the ear canal
10% congenital - can benignly sit behind the eardrum until it becomes infected and begins eroding.
What does the white yellow arrow point to?
Keratin formation on the tympanic membrane - can form on the ear canal walls too - often looks flaky
What does the white arrow point to?
A perforation of the tympanic membrane
(subtotal)
How may the ear look in mastoiditis?
Bulging outwards and downwards facing
Very painful
Abscess on the mastoid visible.
How many attempts should you have at removing an ear/nose foreign body?
One attempt - if child is cooperative, cooperative parent, good lighting and equipment.
What foreign body in the ears, nose or throat is an ENT surgical emergency?
Button batteries.
Will erode through nearby structures rapidly. Intracranially if in the ears or nose. Into the mediastinum, heart, lungs or aorta if in the throat.
Are babies obligate nasal or oral breathers?
Nasal
What is choanal atresia?
Failure of the nose to canalise - a membrane may cover one or rarely both nasal canals where it joins the back of the throat.
Bilateral is a neonatal emergency.
How may choanal atresia present in a neonate
Cyclical cyanosis immediately after birth.
Born -> cant breathe as blocked -> turns blue and starts crying -> breathes through mouth whilst crying -> turns pink and stops crying -> goes blue again -> repeats.
What is epistaxis?
Nosebleed
What % of <15yr olds will have had a nosebleed?
80%
Why are recurrent nosebleeds common in children?
The nose is richly supplied with blood, especially at the front (Little’s area/Kiesselbach’s plexus) where most nose bleeds occur from. Usually because children overly pick their nose, which can cause bleeding, inflammation and more bleeding.
What should you suspect until proven otherwise in a teenage boy with persistent, high pressure, unilateral nose bleeds (normally left side)?
Juvenile nasopharyngeal angiofibroma - a benign but locally aggressive vascular tumour of the nasopharynx. It is hormone sensitive, most common in adolescent males.
What is a periorbital complication of an URTI?
Periorbital cellulitis -> an emergency, painful and swollen eye. Can cause proptosis.
What is proptosis?
A swollen, bulging eye.
What may a child with proptosis experience?
Red colour vision.
Caused by optic nerve compromise due to increasing pressure compressing the optic nerve artery
And obvs pain
What does stridor indicate?
That 75% of the airway is likely blocked/compromised
How can stridor be classified?
Expiratory - bronchi problem
Inspiratory - laryngeal problem
Biphasic - Sub-glottis/tracheal problem
What is laryngomalacia?
A birth defect characterised by softening and inward collapse of the larynx of inspiration.
Normally harmless - usually have a normal sounding voice but may have stridor worse on feeding or exertion and general noisy breathing.
What is acute epiglottitis?
A medical emergency - Infection/inflammation of the epiglottis
What is the most common causative agent of acute epiglottitis?
Haemophilus influenzae B (HiB)
Why is acute epiglottitis rare nowadays?
Due to the extremely affective HiB vaccine.
What is the management of acute epiglottitis?
DO NOT AGITATE OR STRESS THE CHILD
- It can lead to adrenaline and bronchocollapse - death
Calmly take to theatre/calmy tracheostomy.
How may acute epiglottitis present?
Very suddenly unwell, drooling, stridor
More common in age 2-5yrs
May be ‘banana-ing’ - abnormal arching back to try and breathe.
They look like they are dying - they are…
What is Croup?
Laryngotracheobronchitis
Common, usually low grade fever and not very unwell
May have stridor due to larynx narrowing
What usually causes Croup?
Parainfluenza virus types 1 and 2
What is sleep apnoea?
Cessation of breathing + desaturations
What can cause sleep apnoea in children?
Large tonsils or adenoids
How may children with sleep apnoea present?
Snoring/stertor
Restless
Sweaty
Poor eaters - fine drinking
Failure to thrive
Behavioural problems - hyperactivity, tiredness
What is the definitive treatment for tonsil/adenoid caused sleep apnoea in children?
Adenotonsillectomy
What is the safest way to remove an airway foreign body?
Rigid ventilating bronchoscope.
What is the difference between vomiting and regurgitation?
Vomiting is classically accompanied by retching, requiring effort and often quite forceful.
Regurgitation has no retching, is not forceful and requires no effort.
Often seen as small amounts that dribble out from the mouth.
What is cyclical vomiting syndrome?
2-3 days of N+V every fews weeks/months with no obvious cause.
Generally just unwell, may help sitting in the dark
What is classed as infrequent stool passing?
<2x per week
What is meconium?
The earliest stool passed in an infant. Composed of nutrients absorbed in utero. Often green/black and tar like.
When should a neonate pass meconium?
Within 48hrs of birth.
What can help a neonate to naturally pass meconium?
Breastfeeding in the first days of life - colostrum has a natural laxative effect
What is colostrum?
The first form of breastmilk that is released from the mammary glands after giving birth. It is nutrient dense and high in antibodies. Yellow/gold in colour.
What may be given if a child is failing to pass meconium?
Fybogel
What is fybogel?
A stool bulking laxative that encourages peristalsis?
What may failure to pass meconium in <48hrs be an early sign of?
Meconium ileus
What is meconium ileues?
Bowel obstruction caused by meconium pellets and the ileocaecal valve.
How can meconium ileus be diagnosed?
Failure to pass meconium, contrast enema to image. The contrast can also help to move the meconium and release the obstruction.
Give 4 common causes of bowel obstruction in children.
Intussusception
Meconium ileus
Volvulus
Hirschprung’s disease
Malrotation
Give some causes of acute diarrhoea.
Mostly viral
- Norovirus, rotavirus
Bacterial
- C. difficile
Parasitic
- Giardia
All can cause acute gastroenteritis.
When should acute diarrhoea be investigated?
If septicaemia is suspected, or there is blood in the stool.
Which Ig do babies not produce much of?
IgG - maternal transfer in breastmilk
They usually make IgM, with little IgA
What is the prevalence of anxiety disorders in teenagers?
16%
What are 3 long-term risks of Anorexia Nervosa/starvation?
- Osteoporosis & increased fracture risk
- Stunted growth and pubertal delay
- Neurocognitive delay in development
What is refeeding syndrome?
A life-threatening shift of electrolytes and fluids following rapid nutritional intake after a prolonged period of malnutrition or starvation
What are some signs for admission in patients with Anorexia Nervosa/starvation?
Resting bradycardia <50bpm
Postural tachycardia (PoTS)
Postural syst BP drop >20
Hypothermia <35.5
Severe abdo pain
Escalating parental concerns
What is postural tachycardia syndrome (PoTS)?
Where the heart rate rapidly increases after getting up from sitting or lying. Causes dizziness, syncope, chest pain and fatigue.
What are some short term complications of Anorexia Nervosa/starvation?
Cardiac:
- loss of heart muscle and impaired cardiac reserve (bradycardia, PoTS,
Hypothermia:
- core temp <35.5
(Heat conservation reduced due to impaired cutaneous vasoconstriction/impaired increase in metab rate in the cold)
Gut:
- abdo discomfort
(constipation, bloating, reduced gastric emptying/motility, impaired enzyme secretion)
- abdo pain
(pancreatitis, superior mesenteric artery syndrome)
What is superior mesenteric artery syndrome?
Compression of the duodenum between the aorta and overlying superior mesenteric artery, causing ischaemia. (rare)
Excruciating, stabbing abdominal worse after eating.
What is anaemia?
A condition in which there is a deficiency of red cells or of haemoglobin in the blood to meet the bodys requirements.
NOT a diagnosis - anaemia caused by …
What is a normal birth Hb range?
149-237 (g/L)
Describe the pathogenesis of anaemia.
Blood loss:
- acute haemorrhage
- chronic bleeding -> iron deficiency
Decreased production:
- nutrient deficiencies (iron, B12, B9)
- bone marrow failure (DBA, TEC)
- infiltrative disease (acute leukaemia, neuroblastoma, lymphoma)
Increased consumption:
- Acquired (immune, drugs, parasitic, MAHA)
- Inherited (membranopathies, enzymopathies)
Why is MCV clinically useful?
You can classify anaemia as:
Macrocytic,
Normocytic,
Microcytic,
Helps to diagnose the cause of the anaemia.
What does MCV mean on a FBC?
Mean corpuscular volume.
Give 3 causes of microcytic anaemia.
Iron deficiency (uptake vs chronic bleeding)
Thalassaemia
Lead toxicity
Give 3 causes of normocytic anaemia.
Acute blood loss
Haemolysis (enzy/memb)
Bone marrow infiltration
Give 3 causes of macrocytic anaemia.
Megaloblastic anaemia (b12/B9 deficiency)
Hypothyroidism
Aplastic anaemia (stop producing enough new rbcs)
Normal newborn (body grows quicker than rbc nos. can keep up)
What is the most common cause of anaemia in the young?
Iron deficiency anaemia.
Give 3 things that can cause iron deficiency anaemia in the young.
Prematurity - most of the maternal iron transport occurs at the end of term
Drinking cows milk over breast milk (not absorbed as well as breast milk, so less nutritional uptake)
PICA
What is PICA?
An eating disorder characterised by a tendency to eat substances that provide no nutritional value,
eg soil, chalk, hair, paper etc
How is iron deficiency anaemia treated?
Oral iron supplements (6mg/kg/day)
Reticulocytosis occurs in 72hrs, the bodies iron stores are completely replenished in 3 months
What are reticulocytes?
Immature red blood cells
What further test can help to diagnose a cause of anaemia?
Blood film
What condition has bite cells found on blood film?
G6PD deficiency
What is G6PD deficiency?
An x-linked condition, thus primarily affecting males.
A deficiency of an enzyme necessary for healthy and proper function of rbc regulation.
The deficiency causes premature breakdown of red blood cells.
How may someone with G6PD deficiency present?
Anaemic
Jaundiced
Dark urine
Fatigue
What is a common side effect of taking iron supplements?
Constipation
Describe the causes of haemolytic anaemias.
Intracorpuscular:
- Haemoglobinopathies, enzymopathies, membranopathies
Extracorpuscular:
- Autoimmune
- Fragmentation
- Hypersplenism
- Plasma factors
Give examples of haemolytic anaemia presentations.
Hydrops fetalis
Neonatal hyperbilirubinaemia
Neonatal ascites
Splenomegaly
Aplastic crisis
Leg ulcers
Give 2 causes of severe anaemia at birth.
Haemolytic disease of the newborn.
Bleeding
(umbilical cord/internal haemorrhage)
What is haemolytic disease of the newborn?
Rh -ve mother, previously sensitised to Rh +ve
Transplacental passage of anti-Rh +ve antibodies
Haemolysis of Rh +ve fetal cells
-> Jaundice & anaemia
What can trigger sporadic haemolysis in G6PD deficiency?
Drugs
Fever
Acidosis
…
Fava beans
What is the commonest hereditary haemolytic anaemia in Europeans?
Hereditary Spherocytosis. (membranopathy)
Typically autosomal dominant, but no FHx in 25%
What does this blood film show?
Sickle cells
What is sickle cell disease?
The most common serious genetic disorder in England affecting >1/2000 live births. Autosomal recessive
A substitution of valine for glutamic acid on the beta haemoglobin chain, causing sickle haemoglobin (HbS)
(Haemoglobinopathy)
Describe the pathophysiology of sickle cell disease.
HbS polymerises when deoxygenated, leading it to change shape to a sickle shape.
Occlusion of the microvascular circulation occurs as the sickle cells are unable to flex to pass through the vessels. This causes vascular damage, infarcts and pain.
It leads to a shortened survival of RBCs leading to haemolysis.
How may sickle cell present?
Dactylitis
Acute chest syndrome
Splenic sequestration
(spleen bulging as full of blood, causes abdo distension and splenomegaly, spleen can rupture and lead to massive haemorrhage.
How can HbSS be diagnosed?
Blood film
Sickle solubility test
HPLC (baso mass spec - each Hb chain variant has a different Mr)
At what age does sickle cell disease first present and why?
2-4 months
Fetal haemoglobin is produced until this time, which is used in the formation of RBCs instead of HbB. Once the a2y2 RBCs begin to die, they are replaced with a2b2 RBCs, leading to sickle cell diseae/trait
What is the difference between sickle cell disease and sickle cell trait?
Sickle cell disease is homozygous for the HbS gene, leading to a shorten life expectancy and symptomatic disease.
Sickle cell trait is heterozygous (HbB & HbS), so they can live a normal, asymptomatic life. They are a carrier for the HbS gene.
What are some potential complications of HbSS?
Chronic ankle ulceration
Priapism
Avascular necrosis
Gallstones
Enuresis (bedwetting)
Stroke
What is thalassemia?
Haemoglobinopathies.
Can be alpha/beta and major or minor
eg, alpha-thalassemia major = both alpha Hb genes are mutated -> two abnormal HbA per cell - largely incompatible with life, present from utero
beta-thalassemia = one beta Hb gene is mutated -> one abnormal HbB per cell - can live almost asymptomatic, a carrier for the HbB thal. gene.
What factors affect haemostasis?
Platelets
- number of
- function of
Coagulation factors
Vascular integrity
What is thrombocytopenia?
Low platelets
What can cause thrombocytopenia?
Increased platelet destruction (immune)
- ITP
- Secondary to infection (HIV, hep., CMV)
- Drugs (valproate, cipro, ibuprofen)
Increased platelet destruction (non-immune)
- Microangiopathic (TTP, HUS)
- Drugs
Decreased platelet production
- Ineffective thrombopoeisis (B12/9/sev iron def)
- Infiltration (leukaemia)
- Bone marrow failure (aplastic anaemia)
Disorder of platelet pooling
- Hypersplenism
Pseudothrombocytopenia
- Platelet activation during venepuncture (false low)
What is ITP?
Immune thrombocytopenic purpura
The most common immunological thrombocytopenia.
Diagnosis of exclusion - well child, acute onset and no concerning features in history and normal exam (bruising/petechia expected)
What are coagulopathies?
Various errors/disorders in the clotting cascade
Name two bleeding disorders.
Haemophilia (A/B)
Von Willebrand factor disease (vWF)
What is the most common inherited bleeding disorder?
Von Willebrand factor disease
What are the 3 types of vWF disease?
Type 1: Make some, but not enough
Type 2: Make loads, but doesn’t work
Type 3: Make none at all
What are the normal functions of VWF?
Mediates the adherence of platelets at sites of endothelial damage, helping to form the platelet plug
Binds and transports FVIII, protecting it from degradation.
How does VWF disease present?
Easy bruising
Epistaxis
Menorrhagia
Mucosal bleeding
Following surgery or trauma
How may VWF disease show on a clotting screen?
Often prolonged APTT (not always… due to type etc)
How can VWF disease by managed?
TXA (tranexamic acid - acute, an antifibrinolytic) (IV)
Desmopressin (elevates FVIII and VWF levels by causing release from endothelial stores) Given IV, IM or nasally
What are two cons of using desmopressin to treat VWF disease?
It affects serum sodium
It stimulates the release of reserve FVIII and VWF, the more it is used the less is stored in reserve, so it loses its effectivity with repeated use
What is haemophillia?
A deficiency of Factor VIII/IX
X-linked recessive, only affects boys
Characterised by prolonged bleeding, muscle bleeds and joint bleeds (can lead to arthritis and deformity)
Prolonged APTT
How can bleeding be managed in Haemophilia?
TXA
Factor concentrate
Emicizumab (recombinant humanised bispecific mab, mimicking the co-factor of activated FVIII) - baso replaces the missing FVIII so clotting cascade no longer interrupted.
Errors in which part of the clotting cascade cause a prolonged APTT?
The intrinsic pathway
Errors in which part of the clotting cascade cause a prolonged PT?
The extrinsic pathway
Why do VWF disease and Haemophilia cause a prolonged APTT?
They are genetic conditions affecting the intrinsic pathway.
What Factor is affected in haemophilia A?
Factor VIII
What factor is affected in haemophilia B?
Factor IX
What proportion of children develop cancer each year?
1/8000
What type of cancers are very rare in children?
Carcinomas
What age group is leukaemia more common in?
Young children
Name 3 embryonal tumours that are very rare in adults.
Wilms
Neuroblastoma
Rhabdomyosarcoma
Name two types of genes, which if they have the correct mutation, can increase the susceptibility of developing cancer.
Oncogenes - should be ‘off’, if activated, can cause cells designated for apoptosis to survive and proliferate instead.
Tumour suppressor genes - should be ‘on’, they regulate cell division and replication, if damaged can have impaired function and allow excessive cell reproduction.
What is the peak age incidence of bone tumours and lymphomas?
Early adolescence to early adulthood.
They can usually remain dormant for years until they are triggered to rapidly grow.
What can trigger bone tumours and lymphomas to rapidly grow?
Puberty,
Infection,
Growth spurts
How may acute leukaemia present?
Fever
Fatigue
Frequent infection
Lymphadenopathy
Organomegaly (liver/spleen)
Anaemia
Bruising/petechia
Bone or joint pain
What investigations can be used in suspected ALL?
Blood film
Serum chemistry
CXR
Bone marrow aspirate
Lumbar Puncture
What are 3 problems which can be associated with a localised mass?
Airway obstruction from lymphadenopathy
Pulmonary oedema
Ascites
How may CNS tumours present?
Headaches - often worse lying down
Vomiting - early morning
Papilloedema
Squint
Nystagmus/Ataxia/DANISH etc
Personality/behavioural change
Losing skills - e.g. stop being able to walk
What does this MRI head show?
A mass/lesion in the central cerebellum, just posterior to the medulla. (Medulloblastoma)
What does this MRI head show?
A mass/lesion in the brain stem. (Pontine glioma)
Very rare (<40cases per year, UK)
Inoperable due to location
Life-limiting.
What does this MRI head show?
A mass/lesion in the right lobe of the cerebellum (Pilocytic astrocytoma)
Can be surgically removed depending on size/location
Usually in the posterior fossa
Benign, slow growing
How can CNS tumours be managed?
Surgery
- Resection if possible
- VP shunt to control intracranial pressure
Chemotherapy
- single agent/combination
Radiotherapy
- malignant tumours in older children
How common is lymphadenopathy in childhood?
Common, (up to 50%)
Mostly self-limiting and benign.
What does this axial CT abdomen segment show? What may be seen/found clinically?
A large right sided mass
Abdominal distension? Palpable mass?
Adrenal Tumour
What does this axial CT head segment show?
What may be seen/found clinically?
A mass in the right orbit, behind the eye.
Proptosis
Neuroblastoma
What does this axial CT chest segment show?
Two bilateral masses in the posterior chest
What is Wilms tumour?
A rare embryonal kidney tumour (nephroblastoma) affecting mainly children.
Can present with abdo pain, swelling, palpable mass, haematuria, fever, N/V, constipation
How are Wilms tumours managed?
Chemotherapy
- prior to surgery and after surgery
Surgery
- nephrectomy
- If bilateral, then partial nephrectomy of both kidneys.
Radiotherapy
- If there is residual abdominal/pulmonary disease.
How may a retinoblastoma present?
Loss of red reflex +/- squint
What are potential late effects of cancer treatment in children?
Endocrine - growth and development
Intellectual impairment
Cardiac toxicity
Renal toxicity
Fertility problems
Psychological
Describe a wheeze/asthma cough.
Dry cough
Describe a Cystic fibrosis cough.
Wet, productive cough.
What are some causes of recurrent wheeze in children?
Persistent infantile wheeze:
- small airways/smoking household/viruses
Viral episodic wheeze:
- no interval symptoms/URTI triggered
Asthma (multiple trigger wheeze)
- persistent symptoms/atopic/FHx
What are some other causes of wheeze in children?
CF
CLDN (chronic lung disease of prematurity)
Tracheo-bronchomalacia
Ciliary dyskinesia
GO reflux
Chronic aspiration
Immune deficiency
Persistent bacterial bronchitis (PBB)
What is tracheo-bronchomalacia?
‘floppy airways’
The cartilage in the airways responsible for holding the airway open is flaccid, tracheal collapse can occur when breathing in
It normally presents with stridor (trachea) but can present with wheeze if severe (broncho affected)
What is ciliary dyskinesia?
Improper ‘wafting’ of cilia,
often related to GH issues
What can cause chronic aspiration?
Reflux?
Unsafe swallow?
What is Persistent bacterial bronchitis (PBB)
A ‘stubborn’ infection
Common cause of continuous wet cough in children
What is the acute asthma management?
AB(CDE)
A - Airway patent? O2 sats? - 15L O2
B - Breathing? resp rate high? - beta agonist (salbutamol nebulisers) + Prednisolone 1mg/kg
IV salbutamol bolus?
Name 3 ICS used in the prevention of asthma.
Beclomethasone
Budesonide
Fluticasone
Name 2 types of medications used as ‘relievers’ in asthma control.
Short acting Beta 2 agonists
- salbutamol
- terbutaline
Ipratropium bromide - white inhaler
Name two long acting Beta 2 agonists.
Salmeterol
Formoterol
Name one leukotriene receptor antagonist.
Montelukast
Give 5 factors which may contribute to failure to respond to treatment in asthma.
Adherence/compliance (1)
Bad disease (5)
Choice of drugs/devices (4)
Diagnosis (2)
Environment (3)
(ABCDE) (no. = importance)
What are some potential effects of long-term ICS use in children?
Might cause a brief slowing of growth (will catchup)
Adrenal suppression (rare, usually on high dose)
Unsure of affect on bone development
What colour is bile?
Yellow/gold when in the gallbladder
Turns green when interacts with stomach acid
How can diabetes in pregnancy affect the bowels of a neonate?
They can develop a smaller colon, leading to troubles opening the bowels.
What is pyloric stenosis?
Gradual hypertrophy of the pyloric sphincter muscle within 4-6 weeks of birth (usually).
-> Progressive projectile vomiting.
What examination finding may be present in pyloric stenosis?
A small, moveable, palpable mass in the abdomen, feels like an olive.
Why may you have a metabolic alkalosis in pyloric stenosis?
2 reasons:
- Acid lost due to persistent vomiting -> alkalotic
- A high bicarb - it is secreted in the 1st and 2nd part of the duodenum to neutralise stomach acid as it passes through the pylorus. As nothing/very little can pass through the pylorus, less of the bicarb reacts so it stays in the intestines where it is absorbed into the blood further along in the intestines.
What is intussusception?
Telescoping of the bowel into itself.
Typically it is the terminal ileum into the caecum and colon.
May find a palpable mass in the right flank - where the intussusception occurs, and an empty RIF where the bowel and caecum should be.
How may a child with intussusception present?
Crying child
Red currant/black jelly like stools
Sausage-shaped mass in RUQ
(Donut sign on USS)
How can an intussusception be managed?
Contrast enema.
Contrast passes through the colon and pushes the intestines back into place (Un-telescoping?).
It can also then be used to take image of the bowel.
(90% resolve themselves)
Why may the bowel look cyanotic in intussusception?
Due to the increased pressure in the bowel, it can place pressure on the arteries and veins supplying that area of bowel -> decreased bloodflow -> cyanosis
When should the testes descend through the inguinal canal?
~week 30 gestation
Are inguinal hernias more common in boys or girls?
Boys
As the testes descend through the inguinal canal the internal ring should close, however this may not happen and bowel can extend into the internal ring.
What is a possible complication of an inguinal hernia?
Incarceration
What are the peak incidences of testicular torsion?
<6 months and teenagers
Any significant testicular pain needs to be investigated.
What is the timeframe to treat testicular torsion?
<6hrs.
The testicle may be unsavable after this time.
Why do children with appendicitis often perforate before being diagnosed?
Appendicitis in <5yr olds is hard to diagnose as it often does not present typically and can be easily missed, leading to perforation.
What is oesophageal atresia?
Improper formation of the oesophagus. It often abnormally fuses with the trachea and creates tracheosophageal fistulas .
What is duodenal atresia?
Improper formation of the duodenum causing a blockage. It is often due to an abnormal membrane covering the duodenal lumen.
Double bubble sign on XRAY
What is intestinal atresia?
Abnormal formation of the intestines due to vascular compromise.
Vascular compromise in utero can lead to segments of bowel which fail to develop, leading to extremely narrow bowel between segments of normal vasculature, or complete lack of bowel formation (SB or LB)
What does the myenteric plexus control?
Peristalsis
What is Hirschprung’s Disease?
A neurogastric malformation. The myenteric plexus develops top down, beginning at the mouth and development ending at the rectum.
If the development of the myenteric plexus stops early, this causes aganglionic bowel distal to this point, causing the inability to peristalse thus bowel obstruction.
It is very rare to affect abovethe rectum/.
When does Hirschprung’s disease usually present?
Within 2-3 days of birth (around time of expected passage of meconium)
How can Hirschprung’s disease be treated?
A manual washout/decompression of the bowel and ileostomy formation to rest the proximal bowel. Eventually this ileostomy can be pulled through to form an anastomosis with the rectum
What can Hirschprung’s disease greatly increase the risk of developing?
NEC - the lack of movement in the bowel creates an easy area for infection to develop and thrive
What is the treatment for NEC?
Strong, broad IV Abx
NBM - bowel rest
Resection of dead bowel + stoma where the bowel is most proximally healthy.
Stoma reversal and anastomosis possible after atleast 6 weeks of bowel rest.
What is an Omphalocoele/exomphalos?
Where the intestines develop outside the body, contained within a membranous sack.
(1/5000)
Highly associated with CVS abnormalities.
Poor prognosis.
What is Gastroschisis?
Where the intestines form outside of the body, not enclosed in a membranous sack.
(1/1000)
Better prognosis than exomphalos as there are no associated CVS malformations
Why must you wait (sometimes for up to years) to repair gastroschisis and exomphalos?
Because the intestines developed outside of the abdomen, there is no physical space to put the intestines back in the body straight away, so you must wait for the abdomen to grow so that there is enough room.
Repairing early can cause renal failure as you risk compressing the renal arteries.
What are congenital diaphragmatic hernias?
Congenital hernias in the diaphragm…
Can have any intrabdominal organs in the thorax - normally more superior ones though.
80% occur on the left side.
Can have the entire intestines in the chest if the majority of the diaphragm is absent.
What are the potential pulmonary complications of congenital diaphragmatic hernias?
The presence of intrabdominal organs in the thorax can compress the lungs, causing lung hypoplasia and the development of small lungs in utero.
The intestines can be moved and the hernia repaired, but the lungs will not develop more.
What is phimosis?
A tight, non-retractable foreskin. Normally normal, nothing to worry about
Only a concern if there is scarring to the foreskin
What is hypospadias?
A congenital condition where the urethral opening is on the ventral side of penis, not the tip.
There is normally lack of ventral scrotum, abnormal meatus positioning and an abnormal urethral opening.
Not a major issue, usually on psychosocial issues.
Can be repaired, but 1/4 have significant complications following repair.
What are posterior urethral valves?
A congenital abnormalities where there are valves in the urethra, causing backflow of urine into the bladder and dilatation of the ureters and kidney damage in utero.
~1/3 will need a renal transplant around 20yrs old.
What is the definitive treatment of posterior urethral valves?
Cystoscopy to cut away the valves.
May need future renal transplant.
What is Dietl’s crisis
An intermittent PUJ obstruction, often associated with an aberrant vessel to the lower lobe of the kidney.
Characterised by:
- HTN/headache
- Pain/acute abdomen
- Abnormal vessel pressing on the PUJ.
How are umbilical hernias managed in children?
Normally conservatively - watch and wait
95% resolve spontaneously on their own.
Low risk of incarceration.
May be surgically repaired around 4-5yrs old if still not closed or problematic.
What is omphalitis?
Infection of the umbilical region.
What are omphalomesenteric duct remnants?
Failure of complete closure of the omphalomesenteric duct (embryological connection between yolk sac and intestines), leading to small communications between the umbilicus and the bowel. A cause of bowel obstruction if bowel gets trapped on remnant duct.
What are uracal duct remenants?
Where the uracus fails to fully close, leaving small communications between the bladder and umbilicus.
Describe the foetal circulation.
Maternal blood from the placenta -> Umbilical vein -> through the liver joins the inferior vena cava via the ductus venosus -> blood enters left atrium.
Some of the blood passes through the foramen ovale in to the right atrium -> RV -> aorta & peripheral circulation
Some of the blood passes into the LV -> pulmonary artery -> ductus arteriosum -> aorta & peripheral circulation
- This way the majority of the blood bypasses the lungs.
One umbilical artery branches from each common iliac artery (2 total) -> umbilical cord -> placenta -> maternal circulation. The umbilical arteries wrap around the umbilical vein.
What is the function of the Ductus Venosus?
It shunts ~1/2 the umbilical vein blood flow directly to the IVC via the left branch of the portal vein. It protects the foetus from from placental over-circulation.
What are the embryological remnants of the umbilical vein and ductus venosus?
Umbilical vein: Round ligament of the liver (ligamentum teres hepatis)
Ductus venosus: ligamentum venosum
What can an absent ductus venosus lead to?
Blood flow directly into the LA or portal vein in utero
Can cause hydrops fetalis.
What can a patent ductus venosus cause?
(RARE) Liver dysfunction as 50% of blood will continue to bypass the liver.
Encephalopathy with hyperammonia, hypoxemia, galactosemia
Can the ligamentum venosum reopen in later life?
Yes - uncommon
Cirrhosis can cause high portal hypertension, which could place enough pressure on the round ligament and ligamentum venosum to recanalise the structures.
What 3 broad categories can congenital heart defects be separated into?
Holes/connections
Narrowings
Complex
Give 3 types of abnormal holes/connections in CHD.
Ventricular septal defects (VSD)
Atrial septal defects (ASD)
Atrioventricular septal defects (AVSD)
Are VSDs or ASDs more common?
VSDs (3-4/1000 live births)
ASD (1-2/1000 live births)
What are VSDs?
Defects in the interventricular septum.
Increased blood flow towards the lungs, may cause pulmonary hypertension.
L -> R shunt in the ventricles.
How may a VSD present?
A pansystolic murmur may be heard best in the lower left sternal edge, radiating to the upper sternal edge and axillae
Poor feeding, failure to thrive, tachypnoea
What are atrial septal defects? (ASD)
Defects in the interatrial septum.
Often asymptomatic in childhood and may close on their own during infancy -> symptoms more common in older children and adults.
An ejection systolic murmur may be heard in the pulmonary area.
Can have surgery to fix and prevent LV stretching.
L -> R shunt
Name 3 types of Atrial septal defects.
Ostium Secundum
Ostium Primum
Sinus Venous ASD
What are Atrioventicular septal defects?
A large defect in the heart involving the interatrial septum and interventricular septum.
A common defect in Trisomy 21
Can lead to more rapidly to pulmonary vascular disease, so all T21 children are screened with an echo.
How may an AVSD present?
Poor feeding, failure to thrive, tachypnoea
An active precordium, thrill, gallop rhythm, hepatomegaly and oedema on examination.
A murmur may be present, but due to valvular regurgitation rather than septal defects.
What is the ductus arteriosus?
An embryological connection between the trunk of the pulmonary and the proximal descending aorta.
What is the embryological remnant of the ductus arteriosus?
Ligamentum arteriosus.
What is a patent ductus arteriosus.
Failure of the ductus arteriosus to close antenatally.
Most common in pre-term infants (60% cases), all premature infants will have a PDA as it will not close.
L -> R shunt
How may a patent ductus arteriosus present?
Poor feeding, failure to thrive, tachypnoea.
Classically have a continuous machinery sounding murmur in the pulmonary area. Often have a bounding pulse.
What is the foramen ovale?
A normal connection between the two atria in utero, allowing oxygenated maternal blood to bypass the lungs.
What is the embryological remnant of the foramen ovale?
Fossa ovalis
What is a patent foramen ovale?
Failure of the foramen ovale to close.
The severity depends on the size of the opening and are often asymptomatic.
How may a patent foramen ovale present in adults?
Stroke, following venous thromboembolism that passes through the PFA and into the arterial circulation.
Is a patent foramen ovale an atrial-septal defect?
No, technically.
An ASD occurs when the interatrial septum fails to grow. An PFO is where a normal foramen fails to close, where the atrial septum has grown normally.
Give 3 examples of stenoses/narrowings in CHD.
Coarctation of the Aorta
Aortic stenosis
Pulmonary stenosis
What is coarctation of the aorta?
Narrowing of the aortic arch, distal to the head and upper limb branches.
A life-ending emergency - surgery is the only fix
How may coarctation of the aorta present?
Babies will present in shock, collapse and acidotic around 1 week of age. They will have weak femoral pulses but normal brachial pulses. They will have a BP discrepancy between the upper and lower limbs so four limb BPs must be checked.
Why does coarctation of the aorta present around 1 week after birth?
Due to closure of the ductus arteriosus at this point. The DA allows blood to bypass the narrowing of the aorta and allows oxygenated blood to circulate.
A patent ductus arteriosus is protective in this condition.
What does the blue arrow on this CXR show?
Abnormal contour of the descending aorta, the point of coarctation in this patient. The yellow arow shows the aortic knob, and the green arrow shows the post-stenotic dilatation of the descending aorta.
What is aortic stenosis?
Narrowing of the aortic valve.
Will have weak pulses, a palpable thrill in the suprasternal region and carotid area.
An ejection systolic murmur in the aortic area.
Symptoms only occur in a moderate to severe stenosis
How can the presentation of aortic stenosis change in a critical case vs severe case?
Critical:
- Acute newborn in shock, collapse and acidosis
Severe:
- Fatigue, failure to thrive, syncope/collapse
What is pulmonary stenosis?
Narrowing of the pulmonary valve.
An ejection systolic murmur can be heard loudest in the left sternal border and may radiate to the back.
It is not as detrimental to life as AS, may be SoB if severe and may be blue.
What are two common (relatively) cyanotic heart conditions?
Transposition of the great arteries
Tetralogy of Fallot’s
What is transposition of the great arteries?
Where the aorta is connected to the RV and the pulmonary artery to the LV.
This circulation is not compatible with life. They can be born alive due to shunts, but will collapse when these close.
VSDs/ASDs may allow mixing of blood and life, but they will be cyanotic.
The only treatment is an emergency surgical switch arterial switch
What is dinoprostone (prostin)?
A drug which can maintain the patency of the ductus arteriosus in neonates.
In adult women it is also used for cervical ripening and induction of labour at term.
What is tetralogy of fallot?
VSD
Overriding Aorta
- Aorta lies over the VSD, instead of the LV, receives a
mix of blood from both ventricles
Infundibular stenosis
- Pulmonary stenosis - the infundibulum is the area of
the RV where the PA arises from
RV hypertrophy
- Caused due to increased strain to pump past PA
stenosis
How may an infant with Tetralogy of Fallot present?
Blue or pink, depending on RV outflow due to pressure from stenosis.
Murmur - from PA stenosis, not the VSD as it is usually
so large there is no pressure gradient
Failure to thrive
Cyanotic spells:
- Muscle spasms can cause patent foramina/ducts to close temporarily leading to cyanosis, limp and floppiness
What is a limp?
An asymmetric gait, deviating from the normal, age-appropriate gait pattern
What are red flags in a limp?
Unable to weight bear
Fever/systemic illness
Severe pain:
- Worsening limp+pain
- Waking at night from pain
Redness, swelling, stiffness
Weight loss, anorexia
What are some causes of a limp in <3yrs old?
Septic arthritis/osteomyelitis
Fracture/soft tissue injury
Developmental dysplasia of the hip
Toddler fracture
Non accidental injury
What are some causes of a limp in >3yrs old?
Transient synovitis
Septic arthritis/osteomyelitis (most commonly occurs <4yrs but can occur in older children)
Fracture/soft tissue injury
Perthes disease
What are common causes of limping in children in all ages?
Obvious injuries to the leg or foot:
- sprain, blister, cut, bruise, broken bone etc…
How may septic arthritis present?
Fever >38.5
Inability to weight bear
Warm, painful swelling of the joint
How can septic arthritis be diagnosed?
Clinical picture,
Joint aspiration + MCS
FBC - raised WCC >12
CRP >20
What is the modified Kocher’s criteria?
A tool to work out the likelihood of septic arthritis
What is transient synovitis (of the hip)?
Inflammation of synovial membrane (of the hip).
Typically an acute onset following a recent viral infection, with no systemic upset
No pain at rest and can be managed with oral analgesia
What is developmental dysplasia of the hip?
A condition where the femoral head sits loosely in the acetabulum, due to an abnormally formed acetabulum.
It is more common in girls, firstborns, with FHx of childhood hip problems and babies born in breach position.
The hip can regularly and easily dislocate.
What does this X-Ray show?
A toddlers fracture - a spiral or oblique fracture of the tibia with an intact fibia. A common injury in children learning to walk or run who fall or twist their leg. It is usually a hairline fracture that does not affect the local soft tissues. It heals well and does not affect growth or development.
What is Perthe’s disease?
Rare (1/9000)
It occurs when the blood supply to the femoral head becomes disrupted, causing avascular necrosis and weakening/collapse of the femoral head.
It can cause deformity of the femoral head and sometimes secondary changes to the shape of the hip joint.
It can resolve itself after a few years, but deformity is likely permanent.
What does this X-Ray show?
Destruction of the femoral head, likely due to avascular necrosis and collapse.
What is slipped upper femoral epiphysis?
A fracture through the growth plate (physis) resulting in the slippage of femoral head (epiphysis) from the femoral neck.
Often presents with Knee pain and an externally rotated gait
What is a rare cause of a limp in children?
Bone tumours.
Codman triangle may be seen on X-ray
What is Juvenile Idiopathic Arthritis?
Persistent joint swelling lasting at least 6 weeks which onsets before the 16th birthday with no identifiable underlying cause.
What does oligoarticular mean?
Less or equal to 4 joints involved
What is uveitis?
Inflammation of the middle layer of the eye, uvea or uveal tract.
What are some symptoms of uveitis?
Eye pain - usually a dull ache around the eye, worse on focusing
Eye redness
Photophobia
Blurred or cloudy vision
Floaters - small shapes moving across your vision
Loss of the ability to see objects in the peripheral vision
What is acute uveitis?
Uveitis that develops quickly and improves within 3 months
What is recurrent uveitis?
Where there are repeated episodes of inflammation separated by gaps of several months
What is chronic uveitis?
Where the inflammation lasts longer and returns within 3 months of treatment.
How can uveitis be classified?
Anterior: uveitis in the front of the eye (pain, redness)
- most common, 3/4 cases
Intermediate: uveitis in the middle eye (floaters, blurred vision)
Posterior: uveitis at the back of the eye (vision problems)
How can uveitis be treated?
Steroid eye drops (anterior)
Steroid injections/tablets (middle/posterior)
What is psoriasis?
An inflammatory disease of the skin. Dry, red skin lesions (plaques) covered with silvery scales.
What is psoriatic arthritis?
Joint pain, stiffness and swelling in a person with existing or newly presenting psoriatic plaque lesions.
What are some symptoms of psoriatic arthritis?
Dactylitis
Spondylitis/sacroiliitis
Uveitis
Enthesitis
Nail changes.
What is dactylitis?
Swelling of a digit (toe/finger)
What is enthesitis?
Inflammation of the enthesis, where the tendons join the bone
What is spondylitis?
Pain and swelling in the joints of the spine.
What nail changes may be seen in psoriatic arthritis?
Pitting
Onycholysis
Crumbling
What allele is psoriatic arthritis associated with?
HLAB27
What does polyarticular mean?
5 or more joints affected.
What joints are most commonly affected in oligoarticular JIA?
The weight bearing joints of the lower limbs
Knee, hip
What joints are most commonly affected in polyarticular JIA?
The small joints of the hands, wrist and feet.
What may you look for on a genomic test?
Chromosomal deletion or duplication (CGH)
Translocation (karyotype)
Single gene change (panel, genome)
What is CGH in genetic testing?
Comparative Genomic Hybridisation
Can detect deletion or duplication of single exons
Its main indication is intellectual disability/physical malformations
What types of variants can you have in genetic diseases?
Single nucleotide variants
Missense (one amino acid swapped for another)
Loss of function (to the gene, STOP, frameshifts etc)
Splice site variants
Short trinucleotide repeats
What are the 3 types of single gene disorders?
Autosomal dominant disorders
Autosomal recessive disorders
X-Linked disorders
What do these chromosomes show?
47, XY, +21
A male with downs syndrome
What is Turner’s syndrome? And what are some associated complications?
45,X - a missing X chromosome, can only occur in females
Neonatal: lymphoedema
Cardiac: Coarctation of the aorta
Fertility: dysplastic ovaries (risk of malignancy)
What is Klinefelters syndrome? and what are some characteristics of this condition?
46, XXY - an extra X chromosome, only affects males
Delayed puberty
Can be tall and slim due to delayed puberty
Azoospermia
Often incidentally diagnosed when investigating males for infertility
What is variable penetrance?
The % of individuals carrying a genetic variant who manifest a disease
What is age related penetrance?
The % of individuals who develop a given genetic disease at different ages.
What is variable expressivity?
Different phenotypes expressed by different people with the same genetic disease.
What is cystic fibrosis? And what are some associated complications?
Missense mutation of the CFTR gene on chromosome 7 - hundreds of missense mutations possible, they vary between ethnicities
Prenatal: hyper echoic bowel
Neonatal: Meconium ileus
Postnatal: Bronchiectasis, exocrine pancreas
What is Prader-Willi syndrome?
Neonatal hypotonia and poor feeding
Moderate mental delay
Hyperphagia and obesity
Small genitalia
Caused by a deletion in the paternally inherited chromosome 15, or maternal uniparental disomy
What is Angelmans syndrome?
‘Happy puppet’, unprovoked laughing/clapping
Microcephaly
Mental delay
Seizures
Ataxia with broad based gait
Caused by a deletion in the maternally inherited chromosome 15 or paternal uniparental disomy
What is uniparental disomy?
When a person receives two copies of a chromosome or part of a chromosome from one parent, and no copy from the other.
Name 3 autosomal dominant conditions.
Huntington’s disease
Marfans syndrome
Familial hypercholesterolemia
Achondroplasia
Name 3 autosomal recessive conditions.
Sickle cell disease
Cystic fibrosis
Tay-sachs disease.
Name 3 X-linked recessive conditions.
Haemophilia
Duchenne Muscular Dystrophy
Becker Muscular Dystrophy
Red-green colour blindness - daltonism (~7-10% men)
How do DMD and BMD differ genetically?
DMD: Out of frame deletion in the Dystrophin gene
BMD: In-frame deletion in the Dystrophin gene.
What is the most common cause of lobar pneumonia?
Streptococcus Pneumoniae
What is Streptococcus Pneumoniae sensitive to?
IV benzylpenicillin
PO amoxicillin
Treatment has been started on a pregnant woman with PROM at 22 weeks, delivery has been delayed to 25 weeks. What investigation should be done?
Foetal blood flow – using Doppler
Absent end diastolic flow is a bad sign
Reversed end diastolic flow is even worse
What does neurodivergent mean?
Individuals whose neurology differs substantially from dominant norms
What is the medical vs social model of disability?
Medical - fix the problem with the person
Social - fix the problem with society
How is an ADHD diagnosed?
Clincial Interview
ADHD nurse classroom assessment
QB test
SNAP Questionnaire
What are the main presentations of paediatric oncology?
Fever +/- Unusual infections
Localised Mass - lymphadenopathy, organomegaly, soft tissue or bony mass
Problems caused by localised mass e.g. airway obstruction
Bone Marrow Infiltration - excess bleeding/ bruising
What could be a dangerous cause of a recurrent discharging ear?
Rhabdomyosarcoma, Langerhans cell histiocytosis
What could be a dangerous cause of a recurrent discharging ear?
Neuroblastoma, rhabdomyosarcoma
What is the treatment for ALL?
Chemotherapy – 5 phases
Induction, Consolidation, Interim maintenance, Delayed intensification, Maintenance
Haemopoietic stem cell transplantation -High risk patients in first remission/ Relapsed patients
What is the minimum age for radiotherapy?
5 years of age
What are the indications that lymphadenopathy needs biopsy?
Enlarging node without clear infective cause
Persistently enlarged node
Unusual site e.g. supraclavicular
If have associated symptoms and signs
Fever, weight loss, enlarged liver/spleen
If CXR abnormal
What is the treatment for Paediatric Lymphoma?
Chemotherapy:
Determined by histology and stage
Radiotherapy:
Hodgkin’s – to residual bulk disease
NHL - rarely
Surgery – mainly limited to biopsy
High dose therapy mainly for relapse
What is the treatment for neuroblastoma?
Surgery:
Primary - if resectable
Following chemotherapy
Chemotherapy:
Type determined by stage and biology
High dose with HPSC - high risk groups
Radiotherapy:
Mainly for high risk group or at relapse
What are the three types of limp?
Antalgic
Trendelenberg -
Vaulting or circumduction -
What test can be done if DDH is suspected?
Galeazzi Test - leg length discrepancy
What test can be done if DDH is suspected?
Galeazzi Test - leg length discrepancy
What demographics is Slipped Under Femoral Epiphysis associated with?
Make
Obese (associated with endocrine disorders)
12-13
What demographics is Slipped Under Femoral Epiphysis associated with?
Make
Obese (associated with endocrine disorders)
12-13
What type of defect is acyanotic?
Left to right shunt
What is the management of VSD and PDA?
If failing to thrive:
Increase calories
Diuretics
Surgical close
What is the presentation of aortic stenosis in children?
Symptoms: Reduced exercise tolerance, fatigue, poor feeding, syncope/collapse
Signs: Weak femorals, thrills, ejection systolic murmur heard loudest in aortic area
What is an important measurement to take in complex heart defects?
Pre-ductal and post-ductal saturation
(Sats taken from right hand and then either foot)
What is the management of Coarctation of the aorta of the heart?
Maintain PDA open with prostagladins
Surgical management: Balloon Valvuloplasty or surgical repair
What is the management of Transposition of the Great Arteries?
Emergency septostomy, start prostin to maintain PDA, surgical repair of defect
What is the management of the Tetralogy of Fallot?
Palliative, RVOT/ductal stent or primary surgical repair
Propranolol/ morphine to treat cyanotic spells
What congenital heart problems are associated with William’s syndrome?
Supravalvar AS
PDA stenosis
What congenital heart problems are associated with DiGeorge Syndrome?
Interrupted Aortic Arch
Truncus Arteriosis
TOF
VSD
PDA
What are infantile spasms (West syndrome)?
A type of seizure that occurs in babies
Classical EEG- hypsarrythmia
Developmental delay
Most commonly caused tuberous sclerosis
Look for other features, dysmorphism, skin changes
Tx- Vigabatrin +/- Prednisolone
What is Moro reflex?
A normal reflex for an infant when they are startled or feel like they are falling. The infant will have a startled look and the arms will fling out sideways with the palms up and the thumbs flexed. Absence of the Moro reflex in newborn infants is abnormal and may indicate an injury or disease.
The reflex should go away between 3-6 months. Keeping this reflex/ reflex triggered in the absence of stimulus can be a sign of developmental delay
What is the West syndrome triad?
Infantile Spasms
Hypsarrthymia on EEG
Development problems
What is often mistaken for febrile convulsions?
Rigors
What is the treatment for absence seizures?
Ethosuximide
Give three examples of primitive reflexes
Moto
Grasp
Galant
Give three examples of postural reflexes
Positive Support
Landau
Parachute
When are primitive reflexes present?
Neonatally and diminish over the next four to six months of life
When are the postural reflexes present?
They emerge between three to eight months
What does persistence of the primitive reflexes imply?
They are a hallmark of upper motor neuron abnormality
How many cafe au lait spots are significant?
> 5 cafe au lait spots can be an indicator of neurocutaneous disease
How can blood glucose be measured?
Finger prick blood glucose testing
Continuous glucose monitoring system
Flash Glucose Monitoring system
How is diabetes diagnosed?
Diabetes symptoms plus:
A random venous plasma glucose concentration ≥ 11.1 mmol/l or
a fasting plasma glucose concentration ≥ 7.0 mmol/l (whole blood ≥ 6.1 mmol/l) or
two hour plasma glucose concentration ≥11.1 mmol/l two hours after 75g anhydrous glucose in an oral glucose tolerance test (OGTT).
What are the six domains of functioning?
- Cognition – understanding & communicating
- Mobility– moving & getting around
- Self-care– hygiene, dressing, eating & staying alone
- Social– interacting with other people
- Life activities– domestic responsibilities, leisure, work & school
- Participation– joining in community activities
What is the most common causative bacteria in paediatric UTI?
E. Coli
What effect can an untreated UTI have on the upper urinary tract?
It can cause renal scarring that can lead to chronic kidney disease and hypertension
What are posterior urthertal valves?
Posterior urethral valves (PUV) are obstructive membranes that develop in the urethra, close to the bladder
What do all >6 month patients with UTI get?
Outpatient USS (Even if systemically well)
What test should be done if protein found in the urine?
Protein creatinine ratio
What is the main difference in presentation between nephrotic and nephritic syndrome?
Nephritic has visible haematuria
What are the three main features of nephrotic syndrome?
Proteinuria
Hypoalbunaemia
Oedema
What are the four main features of nephritic syndrome?
Proteinuria
Visible Haematuria
Impaired GFR
Salt and water retention (HTN and oedema)
What is post-streptococcal glomerulonephritis?
A nephritic syndrome that can occur 2-4 weeks after a skin or nasopharyngeal infection with a streptococal bacteria
What is the 6-6-6 rule?
Your differential diagnoses will vary based on the childs age over a short period of time:
6 hours
6 weeks
6 months
What does green vomit indicate?
An obstruction of the GI tract after the bile duct
(GORD, duodenal atresia/stenosis, overfeeding, sepsis, malrotation)
What are the 4 most common causes of vomiting in this age group?
Overfeeding
GORD
Sepsis
Pyloric Stenosis
How much milk should a baby be fed?
150ml/kg/day
What happens to the blood chemistry of a baby with pyloric stenosis?
Hypocholaemic metaboic alkalosis
K - Decreases
Cl - Decreases
pH - Increases
BE - increases
Why does intussusception usually occur around 6 months?
Weaning - oral food intake for first time
Peyers patches enlarge due to microbial challenge, they are caught by a wave of peristalsis and pushed further into the bowel, causing intussusception.
90% idiopathic, 10% anatomical lead point
What are the two most common causes of acute abdominal pain in children?
Non-specific abdominal pain
Acute appendicitis
List 5 surgical causes of acute abdominal pain
NSAP
Appendicitis
Ovarian pathology
Intussusception
Meckel’s diverticulum
List 5 non-surgical causes of acute abdominal pain
UTI
Gastroenteritis
Constipation
Pancreatitis
Right-sided pneumonia
What is an acronym for the signs and symptoms of appendicitis?
MAGNET
Migration of the pain to RIF
Anorexia
Guarding
Nausea
Elevated temperature
Tenderness in RIF
How can you differentiate between normal non-retractable foreskin and Balanitis Xerotica Obliterans?
When retracting the foreskin, the membrane will appear white and scarred in BXO
What is congenital adrenal hyperplasia?
Why can you not do the transillumination test on a child?
How can you differentiate a hydrocele and a hernia?
If you can feel between the top of the scrotum and the bottom of the superficial inguinal ring, it is a hydrocele
“You can get above a hydrocele”
What side is an inguinal hernia more likely to occur on?
Right side
How urgent is it to fix an inguinal hernia in children?
More urgent in younger children
Within days in neonates
Within weeks in infants
How urgent is it to fix an inguinal hernia in children?
More urgent in younger children
Within days in neonates
Within weeks in infants
Should you treat a hydrocele in a child <5 years old?
No, the majority will resolve themselves
When would an enlarged lymph node be a cause for concern?
> 2cm
Inflamed (>2/52)
Enlarging
What is a thyroglossal cyst?
The thyroid starts in the same embryological region as the tongue. As it develops, parts can be left behind causing thyroglossal cysts
What is a dermoid cyst?
Why are dermoid cysts removed?
They will continue to enlarge indefinitely and can get infected
Why must you do an MRI before surgical intervention on a cyst on the midline?
You must confirm it is not connected to the deeper CSF system
How long should you wait until intervening with an undescended teste?
6 months
What can be mistaken for an undescended teste?
An over reactive cremasteric reflex
Why should an abdominal undescended teste be moved to the scrotum?
Abdominal undescended testes have a 10x higher risk of malignancy, so externalising them allows for more easily checking for lumps
What is the only diagnostic test for an abdominal undescended teste?
Laparoscopic surgery
What is VACTERL?
An acronym to help remember associated congenital abnormalities
Vertebral abnormalities
Anal atresia
Cardiovascular abnormalities
Tracheoesophageal fistula
Esophageal atresia
Renal/ radial anomalies
Limb defects
