General paeds - SJS Flashcards
What infections are transmitted through the birth canal at delivery?
GBS
E. Coli
Listeria
Hep B
HIV
What congenital infections can be transmitted transplacentally?
TORCHSHPV
Toxoplasmosis
Other
Rubella
CMV
HSV
Syphillus (treponema pallidum)
Hep B
Parvovirus B19
Varicella zoster
What do the placentally transmitted congenital infections cause?
What is the management of placentally transmitted congenital infections?
Generally, the earlier in gestation the foetus congenitally acquires a TORCH infection, the higher the risk of severe congenital abnormalities and developmental delay.
A conversation is therefore usually had with mothers (especially in the first trimester) about the option of termination.
Some TORCH infections can be treated in the neonate, but for the majority of TORCH infections the treatment is supportive and includes only management of complications.
What screening tests for congenital infections should be offered/recommended to pregnant women?
All mums - SARaH
Syphillus (assays)
Asymptomatic bacteruria (mid stream urine culture, treat empirially to avoid pyelonephritis)
Rubella (anti-Rubella antibodies)
HIV (Western blot and ELISA, give anti-retrovirals to mum, deliver by C-section)
Hep B (HB-sAG, vaccinate and give IgG in delivery room)
GBS (after 37 weeks)
High risk mums - SARaH + 1G, 3T, 4C
Gonorrheoa
Trichomoniasis, Toxoplasmosis & Thyroid function
Chlamydia, Hepatitis C, CMV and cervical abnormalities (pap smear)
What are the effects of toxoplasmosis infection on a foetus?
If 1st trimester low risk of transmitting to foetus but high rate of severe complications
If 3rd trimester high risk of transmitting the infection but low rate of severe complications
Diffiuse calcifications throughout the brain visible on USS
Seizures
Plus the general effects of TORCHSHPV
- Anaemia
- Hepatosplenomegaly
- Symmetrical IUGR (microcephaly)
- Developmental delay
- Sensorineural deafness
- Visual problems
What effect does congenitally acquired Rubella have on a foetus?
Outcome depends on gestation age at which it was transmitted.
- < 12/40 –> congenital rubella syndrome (>90%)
- 12-18/40 –> sensorineural deafness (20%)
- >18/40 –> complications rare
What effect does congenitally acquired CMV have on the foetus?
Periventricular calcifications
Symmetrical IUGR with microcephaly
Developmental delay
Hepatospleenomegaly
Anemia
Sensorineural hearing loss
Visual problems
What is the clinical picture of a baby who has contracted syphillis?
Rhinitis develops at 1 week and worsens. Initially clear then progressively purulent and blood stained.
Neurosyphillis
Bone problems
Maculopapular rash
What is the clinical picture of a foetus that has contracted Parvovirus B19?
Severe anaemia –> high output cardiac failure –> hydrops foetalis
How do you approach the causes of neonatal sepsis? What are the risk factors and bugs?
EARLY <5 days = SOMETHING TO DO WITH DELIVERY/PREGNANCY
Vertical transmission –> GBS, E coli, Listeria
Risk factors
- Maternal infection: UTI, GBS+
- Previous child with GBS sepsis
- Prolonged rupture of membranes (>18h)
- Preterm labour
- Febrile during labour
LATE >5 days = ACQUIRED AFTER BIRTH
Staphylococcus, streptococcus (plus above pathogens)
Risk factors
- NICU stay (just like ICU stay causes infections)
- Foreign bodies eg ETT, catheters
- Malformations
What is the management of neonatal sepsis?
What tests would you do at the first antenatal assessment?
Every visit
- BP
- Weight
- Urine dipstick
- Foetal auscultation (after 12weeks)
- Foetal movements (after 18 weeks)
- Fundal height measurement (after 20 weeks)
Because it’s the first visit
- LNMP for dating (+ 1 year, - 3 months, + 7 days)
- ABO, Rh, Rh antibody levels
- FBE to screen for anaemia
- EPNDS
- Routine torch screening –> SARaH
- Syphilis
- Asymptomatic bacteruria (MSU culture)
- Rubella
- HIV
- Hep B
-
If high risk, additional TORCH screening –> 1G, 3T, 4C
- Gonorrheoa
- Trichomoniasis, Toxoplasmosis & Thyroid function
- Hep C, chlamydia, CMV, cervical abnormalities (pap smear)
What are the diagnostic criteria for encopresis?
- < 2 or fewer defecation in toilet per week
- at least 1 episode of faecal incontinence per week
- history of retentive posturing
- large and/or painful and/or hard bowel movements
- large faecal mass in rectum
What are the potential complications of GORD in infants?
oesophagitis
failure to thrive
aspiration
What is colic?
Crying is normal physiological behaviour in young infants. At 6 - 8 weeks age, a baby cries on average 2 - 3 per 24 hours. Excessive crying is defined as crying >3 hours/day for >3 days/week. This is often referred to as “colic”. However, many babies present with lesser amounts of crying, as the parents perceive it as excessive.
What symptoms would make you worry about GORD in a baby with GOR?
- Pronounced irritability with arching
- Refusal to feed / failure to thrive
- Feeding and behavioural problems
- Weight loss or crossing percentiles
- Haematemesis
- Chronic cough/wheeze
- apnoeas
What is the management of GORD in infants?
Non-invasive management
- Prone position after feeding (supervised)
- Milk thickening agents (eg. rice cereal) reduce the number of episoes of vomiting but not the total time of oesophageal acidity
- Don’t encourage parents to change formulas
- Never change a breastfed child to formula
Definitive management
PPIs relieve symptoms and assist mucosal healing
Omeprazole
Under 10kg: 5mg daily
10-20kg: 10mg daily
Over 20kg: 20 mg daily
Surgical
Failure of medical therapy or recurrent respiratory symptoms (aspiration) may necessitate Nissen fundoplication:
What are the most causes of “colic”/excess crying in an infant?
Most common - benign
- Tiredness
- Hunger - this is more likely if a mother reports:
- inadequate milk supply
- poor weight gain
- baby has frequent feeds (ie, < 3 hourly)
Also consider
- GORD
- Cows milk intolerance
- Check if vomiting, blood/mucus in diarrhoea, poor weight gain, family history in first degree relative, signs of atopy (eczema / wheezing), significant feeding problems
- Lactose intolerance (rare)
If Acute onset consider:
- UTI
- Otitis media
- Raised intracranial pressure
- Hair tourniquet of fingers / toes
- Corneal foreign body / abrasion
- Incarcerated inguinal hernia
What is the classic triad of intssusception?
colicky abdominal pain, currant jelly stool, palpable abdominal mass
Describe the management of suspected intussusception
What are the Ix for suspected intussception?
What are the risk factors for NEC?
Prematurity and low birth weight
Feeding (especially enteral/cow’s milk/early formula)
Infection/ sepsis
Bowel ischemia
Hypotension and congenital heart disease
Hypoxia/respiratory distress/ birth asphyxia
What is the relationship between gestational age and weight and NEC
The incidence of NEC is inversely proportional to birth weight. In general, the age of onset is inversely proportional to gestation; therefore smaller babies present later.
90% of babies with NEC are preterm.
What is the management of NEC
Basics
NBM (gut rest)
NGT (drainage)
Insert IV line for fluids and to take sample for FBE & blood cultures
Place and Person
Refer to paeds gastroenterology / surgery
Investigate and confirm diagnosis
AXR is gold standard
Rationalise ABx once cultures back
Definitive management
Empirical antibiotic therapy:
Metronidazole
Ampicillin
Gentamycin
Only in stage 3B disease:
Surgery to resect affected section with stoma diversion and abscess drainage if needed
What are the buzz words for pyloric stenosis?
Projectile, non-bilious vomiting
First born, Caucasian male with a positive family history
Hypochloraemic, hypokalaemic metabolic alkalosis (also get hyponatraemia too, but not included in the buzz word)
When does pyloric stenosis generally present?
Usually between 2-6 weeks of life
What is the clinical picture o pyloric stenosis?
A sudden onset of vomiting between 2 and 6 weeks of life.
Before the onset of vomiting, these infants feed well and are thriving.
The infant then loses weight (or inadequately gains weight) and becomes dehydrated
Projectile, non bilious vomiting. May contain altered blood.
“Hungry vomiters” – vomit immediately after feeding, and then are hungry again
May be constipated (not absolute)
Examination
Palpable, mobile pyloric tumour in the midline of the epigastrium between the rectus abdominal muscles OR the right rectus and the liver edge (“olive”)
What do you assess to determine the hydration status of a baby?
Behaviour/demeanour
HR/BP
Cap refill (check centrally)
Sinking of the anterior fontanelle and eyes
Tear production/Urine output
Skin turgour
Mucus membranes
Weight loss
What are the Ix for suspected pyloric stenosis?
Usually a clinical diagnosis
Bedside
ABG –> hypochloremic, hyponatremic, hypokalaemic, metabolic alkalosis
BGL
Bloods and urine
FBE
UEC –> hydration
Coags
Imaging
Ultrasound
If very unsure you can do a barium meal (not usually needed)
What is the relevance of metabolic derangement in the surgical management of pyloric stenosis?
It is particularly important to fully correct serum bicarbonate before theatre because of the risk of hypoventilation/ apnoeas post-operatively in the setting of metabolic alkalosis.
What is the management of pyloric stenosis?
Medical (not surgical) emergency
Basics
IV access and fluid resusc if required and as directed by UEC/ABG results
NBM
NG tube if continuing to vomit
Place and person
Paediatric gastroenterology, admit
Definitive
Pyloromyotomy (Ramstedt operation).
What fluid and what rate would you use for bolus IV therapy in a child?
10-20ml/kg of normal (0.9%) saline, which may be repeated
How do you calculate maintenance fluid requirements in a child?
Baby has bilious vomiting, what is the diagnosis?
Malrotation + volvulus until proven otherwise!
What is the clinical presentation of malrotation and volvulus?
History
Presents day 1-3 of life (60–80% of all cases of malrotation present in the first month of life, mostly in the first week.)
Bilious vomiting (malrotation until proven otherwise!)
No dirty nappies once there is volvulus
Rectal bleeding (a late symptom/sign)
Abdominal pain
Examination
Abdominal distension (late sign)
Peritonism (late sign)
What imaging would you order for suspected malrotation/volvulus?
What would you expect to see?
AXR - non-specific, gas in bowel, can get “double bubble sign”
Barium swallow - corkscrew sign
USS - whirlpool sign
What is the management of malrotation/volvulus?
Basics
NBM
NGT – check aspirates for bile
Insert IV and commence fluids
Place and person
Admit and refer to paediatric surgeon
Ix
ABG
Septic screen
Blood group and hold
Definitive management
Urgent surgical correction with follow up
Ladd procedure: untwist counter-clockwise, divide Ladd’s band, widen mesentery attachment, appendicectomy, and replace the bowel in the right location.
Where there is necrotic bowel second laparotomy performed in 24-48hrs later to see if viable gut can be saved – resection
What are your differentials for vomiting in a paediatric case?
Gastro
FAMINE HIP GAIT
Neurological
Increased ICP
Infectious
Gastroenteritis
Meningitis
Pertussis (post tussive cough)
Endocrinological
DKA
Errors of Inborn Metabolism
Psychogenic / Behavioural
Overfeeding in infants
Bulaemia in adolescents
Pregnancy in adolescents
What are the GIT causes of vomiting in a paeds case?
FAMINEHIPGAIT
What can you do for supportive therapy in a child with a respiratory infection?
Oxygen therapy if hypoxic
Assisted ventilation if increased work of breathing
NG feeding if poor feeding
NG or IV fluids if dehydrated
What are the causes of stridor in a child?
ABCDEFGH
What is the generic management of a bowel obstruction in a child, let’s say a 7yo girl?
Basics
DRSABCD
NBM
Place and person
Transport to surgical unit via NETS
Ix
ECG, ABG, BGL
FBE, UEC, LFTs, LDH, Coags, Group and hold
AXR, CT, USS
Definitive
-
Drip and suck-
- NBM and NG tube suction - relieves any respiratory distress from abdominal distension (may also be caused by vomit aspiration)
- Rapid IVF resuscitation with boluses of 10mL/kg given at 15 minute intervals if shocked otherwise give maintenance and mL by mL match for NGT losses.
- Glucose- monitor BSLs and glucose solution should be given with IVF (glucose stores low, no absorption –> anaerobic metabolism)
- Correct Hypothermia
- monitor temperature and have overhead heater
- Correct acidosis
correction of fluid loss, hypothermia and glucose will correct acidosis
- Sepsis
- if at risk administer IV Abx after cultures taken
- Surgical correction if required- according to cause
What are the internationally recognised warning signs of autism in an infant?
What is the acronym for interviewing a teenager?
Plus also ask about sleep
What are the screening questions for eating disorder?
SCOFF
Do you make yourself Sick because you feel uncomfortably full?
Do you worry you have lost Control over how much you eat?
Have you recently lost more than One stone (6.35kg) in a three month period?
Do you believe yourself to be Fat when others say you are thin?
Would you say Food dominates your life?
Plus to screen for bulimia nervosa:
Are you satisfied with your eating pattern?
Do you ever eat in secret?
What are the complications of eating disorders in paeds?
The 5 Hs
- Height (growth retardation)
- Heart (arrythmia, QT, bradycardia, hypotension)
- Happy Bones (irreversible osteoporosis)
- Hormones (osteporosis, hypothyroid, delayed puberty/amenorrheoa)
- Heads (poor concentration, slowed mentation)
What are the red flags for abuse in an injured child?
History provided not consistent with injury
Delay in presentation
Claims that injury caused by young sibling
Denial that it is an injury
Multiple injuries of different types and ages
Injuries not consistent with developmental age
Child brought in by person other than parent
Shaken baby syndrome –> subdural haematoma + retinal haemorrhage
What are the normal nap patterns for babies?
How do you take a sleep history from a child?
What are the general considerations in approaching epilepsy in a child
Unless it is catastrophic epilepsy, early treatment does not change long term outcome
Be hesitant to make a diagnosis because it will change a child’s life forever
Epilepsy will declare itself by progression or resolution.
What is the most important feature of headache in determining aetiology and how would you interpret it?
Time course
Red is raised ICP
Green is migraine
Blue is muscular
Severity
Best to ask what they did during the headache to determine severity (confined to dark room = severe)
Apart from headache what are the symptoms of migraine in a child?
Relief by sleep
Dizziness/pallor
Abdo pain
Nausea and vomiting
Prodrome
Characteristic location of pain
What are the most common causes of URTIs?
Rhinovirus
Adenovirus
Influenza and parainfluenza
RSV
Enterovirus
EBV
Streptococci
What differentials should you always consider for a febrile child?
- ear, nose, or throat infection
- acute respiratory infection
- gastroenteritis
- urinary tract infection
- meningitis
- osteomyelitis / septic arthritis
Baby/child with a CRP > 80, what do you think?
Bacterial infection
What do you need to consider about the utility of urine dipstick in a child?
Urine dipstick not useful in babies under 1 because they pee as soon as urine created which means not enough time for bacteria/WCC to accumulate
Can cause false negative!
What are the differentials for fever + blotchy/spotty rash in a child?
MR SARS EEK!
- Measles
- Rubella
- Systemic JCA (Still’s disease)
- Allergy
- Roseola infantum (HHV6)
- Scarlet fever
- Erythema infectiosum (Parvovirus B19)
- Erythema multiforme
- Kawasaki disease
What are the complications of Kawasaki disease?
Mild, diffuse dilatation of coronary arteries usually begins on day 10 from fever onset. If left untreated, 25% of these patients progress to true aneurysms, with 1% becoming ‘giant aneurysms’ (>8 mm internal diameter). These giant aneurysms have the worst prognosis, with risk of acute thrombosis and long-term risk of myocardial ischaemia
- Carditis during the febrile phase
- myocarditis with ST-T changes (25%)
- pericardial effusions (20-40%)
- valvular dysfunction (1-2%)
- cardiac failure (~5%)
- Coronary vessel abnormalities (occur in 20% of cases if untreated and
- aneurysm formation
- may lead to fatalities from
- thrombosis,
- rupture or
- ischemia-related dysrhythmia
- may lead to fatalities from
What is Scarlet fever?
Rash from strep throat.
Tx with phenoxymethylpenicillin (PO) or benzathine penicillin (IM) to prevent post strep GN or acute rheumatic fever
What are the differentials for fever + vesicular rash in a child?
Hand, foot and mouth
Chickenpox
Herpes simplex
(Remember: vesicular just means blistering)
What are the signs/symptoms of meningitis in a child?
Fever
Stiff neck*/Kernig’s sign
Bulging fontanelle
Irritable
Drowsiness
Poor feeding/vomiting
Palpable non-blanching purpuric rash => meningococcal meningitis
Convulsions/coma/shock –> consider meningitis
Stiff neck is not relevant in infants
What are the different patterns of CSF results in a child with viral/bacterial/TB meningitis?
What are the acute and long term complications of meningitis?
What is the relationship between immune development and prematurity?
Transplacental transfer of IgG happens in the third trimester. Very premature babies can miss out on this process rendering them very vulnerable to infection
NB: The process is actually active and means that the baby ends up with a higher concentration of IgG than their mum!
What would be considered febrile in a child younger than 3 months?
What would you do with a child 2.5 months old with T38.2 degrees
> 38.0 degrees
INVESTIGATE IT!
FBE
blood culture
CRP
Urine dipstick/Urine MCS
CXR only if respiratory signs are present
stool culture, if diarrhoea is present
What is bronchiolitis and what age kids does it affect?
Viral lower respiratory tract infection
Up to 18 months
What pathogens cause bronchiolitis?
RSV
Picornovirus
Human metapneumovirus
Adenovirus –> bad because causes bronchiolitic obliterans!
Parainfluenza
Influenza
What are the risk factors for bronchiolitis?
Exposure to cigarette smoke
Maternal smoking during pregnancy
Prematurity
Chronic cardiorespiratory diseases (including congenital heart disease and cystic fibrosis)
Immunodeficiency
What investigations are required for bronchiolitis?
None, clinical diagnosis
However, nasopharyngeal aspirate is usually done because we like to know which viruses are doing the rounds in the community and to rule out pertussis (which is life threatening to infants)
What is the management of bronchiolitis?
Basics
Oxygen therapy if hypoxic
Person and Place
Criteria for admission:
- <50% normal oral intake
- Sats <93%
- Parental anxiety
- Not yet day 2/3 and expected to worsen
Investigations and Diagnosis
Clinical diagnosis, NPA if required to isolate virus or exclude pertussis
Definitive Management
- NG feeds
- IV fluids
- O2 support
- Low or high flow nasal prongs
- CPAP
- Intubation
Long-Term Management
Usually resolves after a week
RSV is a highly infectious virus, ensure good hand hygiene to prevent spread.
Ensure immunizations are up to date
What are the differentials for wheeze in a young child?
Bronchiolitis / bronchitis
Asthma / viral induced wheeze
Viral pneumonitis
Croup (can cause wheeze)
Pneumonia
Pertussis
Bronchiomalacia/tracheomalacia
Cardiac failure
CF or other suppurative lung dz
Recurrent aspiration
Inhaled foreign body
What ages does croup typically occur?
6 months to 12 years of age, with a peak incidence at age 2
What is the significance of hypoxia in croup?
If you’re thinking about hypoxia the croup is life threatening.
Adequate SPO2 should not be reassuring – low oxygen saturations is a BAD sign.
What pathogens cause croup?
Parainfluenza
Influenza
Adenovirus
What is the clinical presentation/natural history of croup?
- Begins with coryzal symptoms for 1-2 days
- Fever is generally low grade (38-39) – no signs of toxicity
- Barking cough – usually begins at night or early hours of morning. Peaks at day 2 and 3 of disease
- It takes two or three days before the sub-glottic area narrows enough to cause the barking cough
- It happens first at night, usually, because we have reduced upper airway tone when we sleep
- Inspiratory stridor is heard as the disease progresses
- The viral illness typically lasts 7-10 days, but the typical croupy cough only lasts 2-3 nights
- May have associated widespread wheeze, increased work of breathing and hypoxia – child may become distressed and restless, cyanosis is a late and ominous sign
- Recurrent spasmodic croup
- ‘Upper airway hyperresponsiveness’
- No viral prodrome
- Children are well when they go to bed, and wake up in the early hours of the morning with a barking cough and stridor
- Fever is unusual in this form of croup
- Children often have asthma or atopy, or a FHx of asthma and atopy
What are the investigations for croup?
None, dont distress the kid!
How do you differentiate croup from epiglottitis?
What is the management of croup?
Basics
Minimal handling
Oxygen is not usually required unless severe obstruction
IV access should be deferred
Place and person
Grade 1 – manage at home
Grade 2 – admit to hospital via ED
Grade 3 – admit to ICU
If having to administer oxygen, contact anesthetics!
If having to administer a second dose of adrenaline, contact anaethetics!
Investigate and confirm diagnosis
Clinical diagnosis
Non-invasive management
Keep child relaxed
Definitive management
Mild to moderate
Oral prednisolone 1mg/kg
OR Oral dexamethasone 0.15mg/kg – 0.6mg/kg
Severe
- Oxygen
- Nebulised adrenaline 1:1000 solution
- Works by vasoconstriction
- Beware of possible rebound effect after 2-3 hours – must observe
- This is more symptomatic treatment to buy you time
- Dexamethasone IV 0.2mg/kg
- Follow with oral steroids
- ETT if going into respiratory failure
Long term
Consider transfer when no improvement following nebulized adrenaline
Discharge requirements
Four hours post nebulized adrenaline
Half hour post oral steroid
Stridor free at rest
Recurrent-Spasmodic Croup
Usually don’t require treatment as attacks are very short-lasting. But can treat the same as acute viral croup. Some evidence to suggest that ICS may reduce frequency of attacks, but children will most likely grow out of this.
Who does pertussis affect?
Most common age group in community is adolescents and young adults, but not dangerous for this group except for being vector
Under 12 months deadly
Under 6 months VERY deadly
Discuss the transmission of pertussis?
Transmission: Direct contact with droplet discharges
Highly contagious – spreads to 80-90% of susceptible individuals coming in contact with disease
Describe the natural history of pertussis?
Catarrhal stage (7-14 days)
- Anorexia
- Rhinnorrhoea
- Conjunctivitis/lacrimation
- Dry cough
Paroxysmal stage (about 4 weeks)
- Paroxysms of severe coughing with inspiratory ‘whoop’
- Vomiting (after coughing)
- Coughing mainly at night
- Lymphocytosis
Convalescent stage
- Chronic cough which may last for weeks
What tests do you use for pertussis?
FBE –> lymphocytosis
CXR to exclude pneumonia
Culture and/or PCR of nasopharygeal aspirate (within 1 week from onset of cough). Both of these tests have 70% sensitivity
What is the management of pertussis?
Basics
ABC
Place and person
If younger than 6 months – hospitalization
School exclusion until at least 5 days of antibiotic use
Investigate and confirm diagnosis
Nasopharygeal aspirate
FBE, IgA serology
CXR – to exclude pneumonia
Non-invasive management
Good ventilation
Avoid emotional excitement or distress
Avoid overfeeding during paroxysmal stage
Definitive management
- Pertussis infection (Group B disease) requires written notification within five days of diagnosis.
- Antibiotics minimize transmission but do not effect course of disease
- Azithromycin 500 mg 5 days OR
- Clarithromycin 7 days
Prophylaxis
Same treatment as above for household and other close contacts if commenced within 3 weeks of onset of cough in the patient
Prevention
- Acellular pertussis is part of the immunization schedule
- Initial protection
- 2, 4 and 6months
- Booster (dTpa)
- 4 years
- 10-15 years
- Parents or household contacts of newborns
What are the complications of pertussis?
Pneumonia
Atelectasis
Pneumothorax
Seizure
Asphyxia
Apnoea/bradycardia
Rib fracture
Encephalopathy
Otitis media
What is the treatment for infrequent episodic asthma?
SABA PRN only, NO ROLE FOR PREVENTER IT IS NOT EFFICACIOUS
What is the stepwise pharmacological management of childhood asthma?
Step 1: RELIEVER
SABA
Step 2: PREVENTOR
Low dose ICS (200 – 400mcg / day)
OR LTRA
OR inhaled cromone
Step 3: ADD OR INCREASE STEROID
Increase ICS (Double: 400 – 800mcg / day)
LTRA / inhaled cromone + low dose ICS
Step 4: ALL PREVENTORS AND HIGHEST ICS DOSE
LTRA / cromone + ICS (800mcg)
Step 5: ADD SYMPTOM CONTROLLER / ORAL STEROIDS
LABA (not in children
What is the correct definition of asthma?
Rrecurrent wheezing episodes which are responsive to salbutamol.
Is asthma more prevalent in males or females?
Boys generally have smaller airways than girls and tend to suffer more from asthma. However, after adolescence the prevalence is higher in females.
What are the side effects of inhaled corticosteroids in children?
Very safe, almost not clinically significant long term side effects
Hoarseness and pharyngeal candidiasis are not common
Treatment beginning before puberty is associated with a small (mean approximately 1 cm) reduction in adult height
What is the genetic inheritance of cystic fibrosis?
autosomal recessive
What are the clinical manifestations of cystic fibrosis?
What are the complications of cystic fibrosis?
MR PANCREAS
M - Meconium ileus (at birth) and distal intestinal obstruction (children and adults)
R - Recurrent infections
P - Pancreatic failure (exocrine and endocrine)
A - Allergic bronchopulmonary aspergillosis
N - nasal polyps and recurrent sinusitis
C - Cirrhosis of hepatobiliary system
E - Emotions (teenagers often depressed) and electrolyte disturbances (low Na+)
A - Airway leaks (pneumothorax)
S - Sterility in males
What is the management of cystic fibrosis?
Basics
NA
Place and person
Referral to
- Respiratory physician
- Chest physiotherapy
- Dietitian
Investigate and confirm diagnosis
Sweat test and genotyping
Non-invasive management
- Chest physiotherapy
- Monitoring and optimizing nutrition
- High intake of dietary fat
- Pancreatic enzyme supplements
- Fat soluble Vitamin supplements
Definitive management
- For respiratory infections
- S. aureus infection
- Di/flucloxacillin
- S. aureus and Haemophilus influenzae infection
- Augmentum or trimethoprim and sulfamethoxazole
- Initial pseudomonal infection
- Ciprofloxacin PLUS
- Tobramycin by nebulizer OR
- Colistimethate sodium by nebulizer
- Chronic pseudomonal exacerbation
- Ciprofloxacin PLUS
- Tobramycin by nebulizer OR
- Colistimethate sodium by nebulizer OR
- Gentamicin by nebulizer
- S. aureus infection
Long term
- Respiratory
- Daily chest physiotherapy
- Aerosolised mucolytics
- Dornase alfa
- Nebulised hypertonic saline
- Inhaled bronchodilators
- Inhaled corticosteroids
Chronic pseudomonal infection
Azithromycin orally 3 times weekly
GORD
PPI
What is this and what is the treatment?
Exomphalos is a type of abdominal wall defect. It occurs when a child’s abdomen does not develop fully while in the womb.
Tx = surgical correction in first 2 days of life
This baby has just been born, what is the diagnosis and management?
Hydrocele. It will self resolve. But you must make sure to rule out testicular torsion.
What is this? What is the management?
Gastroschisis
Urgent surgical repair
What is this? Is it always abnormal?
Phimosis (the foreskin cannot be fully retracted over the glans penis). Most kids born with non-retractile foreskin. Normal up until puberty. If not loosening by age 4 prescribe steroid cream to promote loosening of the skin.
What is this? What is the management?
Paraphimosis (the foreskin becomes trapped behind the glans penis, and cannot be reduced).
Management:
Apply local or general anaesthetic, compress the oedema (may have to apply pressure for >5 mins) to drain the fluid. If that fails contact paeds surg to puncture the skin with a needle and aspiration fluid. Then replace the foreskin.
What are the causes of cyanotic heart disease in infants?
1,2,3,4,5 T’s
1 vessels (Truncus arteriosus)
2 vessels swap (Transposition of the Great Arteries)
3 = Tricuspid atresia
4 = Tetralogy of Fallot
5 words (Total Anomalous Pulmonary Venous Return)
What are the causes of acyanotic heart disease in kids?
You diagnose a child with a septal defect (either atrial or ventricular), what is the physiology of the condition and what is your initial management?
Septal defects cause L –> R shunts
ACEi, diuretics to reduce preload and strain on right heart plus feeding to increase baby’s weight ready for surgical correction
How is a patent ductus arteriosis usually picked up?
What is the problem with a patent ductus arteriosis?
Identified if infant experiences heart failure, or later in life because doctor hears machinery murmur or notices wide pulse pressure (caused by the run-off of blood flow from the aorta to the pulmonary artery during diastole).
What is the problem?
Blood flows from the high pressure aorta into the low pressure pulmonary artery, overloading pulmonary circulation and causing pulmonary hypertension and heart failure (dyspeneoa, FTT, recurrent infections). If not picked up until adulthood pulmonary hypertension can be a significant issue.
Children with a small PDA are often asymptomatic, but may develop Infective Endocarditis.
You hear a machinery murmur in a 3 month old, what investigations would you do?
Bedside tests
ECG – normal with small PDAs.
Left ventricular hypertrophy with larger PDAs
Bloods and urine
Nil
Imaging
CXR – full pulmonary artery silhouette and increased pulmonary vascularity. Cardiomegaly may be present in a larger shunt.
Echocardiography – visualise the PDA to confirm diagnosis
Special tests
Nil
What is the management of patent ductus arteriosis?
Premature infants
- IV indomethacin in patients with very low birth weight
- IV indomethacin or ibuprofen of premature infants of larger weight
- Treatment can be given before evidence of a PDA becomes evident
- Prophylactic indomethacin might increase ductal closure and decrease the incidence of intraventicular haemorrhage
Term infants
- In asymptomatic or symptomatic patients, percutaneous catheter closure is the first-line treatment in order to treat heart failure and prevent elevated pulmonary pressures or endarteritis.
- Infants who are symptomatic and too small to undergo percutaneous device closure need ACEi/diuretic treatment and feeding until they are large enough for surgical management
Aortic coarctation
When does it present?
How does it present?
What is the management?
When does it present?
If severe: acute circulatory collapse at 2 days of life after being previously well (duct closure). This is the usual scenario.
If mild: Later in life, often discovered when pt is being investigated for refractory hypertension. The later the abnormality is discovered the harder the HTN is to treat.
How does it present?
Sick baby
Hypertension
Unequal BP between arms
Absent femoral pulses
Severe metabolic acidosis
May have an ejection systolic murmur between the shoulder blades
MGMT?
ABC, prostaglandins, urgent surgery
What is the management of hypoplastic left heart syndrome?
The Norwood operation, which connects the aorta and the returning pulmonary veins to the R heart – a one chamber heart!
Usually receives follow up operations at 3 months and 6 years
How does blood flow typically work in infants with interruption of the aortic arch?
What is the management of this condition?
In the immediate newborn period blood flows through the ‘Ductus’ into the Descending Aorta and hence reaches the lower part of the circulation.
Fortunately these babies usually have a VSD, meaning that the blood that flows through the pulmonary artery, though the ductus and into the descending aorta is at least partly oxygenated.
As the ductus closes after birth blood pressure in the lower circulation becomes inadequate and severe symptoms develop.
Most affected infants develop severe symptoms (difficulty breathing and impaired kidney function) in the first week of life and need urgent surgery
Mx = ABC, prostaglandins, surgery in days
What is the clinical presentation of hypoplastic left heart syndrome?
Presents early in life (usually D2 when duct closes) as the “shocked neonate” – dusky colour, weak or absent pulses, low BP, reduced UO, metabolic acidosis
Obstructive heart diseases in neonates are usually XXX which means they often present XXXXX when XXXX happens…..
duct dependent
In the first week of life
When the ductus closes
Describe the murmur of VSD
Small VSD – high pitched pan-systolic murmur, associated with a thrill
Large VSD – Quiet pansystolic murmur, heave
What is the most common heart defect?
What is the most common heart defect in babies with downs syndrome?
VSD in both
What is the management of VSD?
Small –> conservative management and monitoring
Large –> surgical repair
What are the forms of ASD and which form is most common?
Secundem (most common)
Primium (AVSD)
What is the management of ASDs?
Most affected children are free of any major symptoms, but the risk of heart failure developing later in life makes closure desirable, unless the defect is very small. These defects may be repaired surgically or by using an expanding plug (“Device”), which can be inserted through a heart catheter without an operation (Device Closure)
What are the causes of cyanosis in the neonate?
OH CRAP THAT BABY IS BLUE!
DONT SWEAR IN FRONT OF THE BABY!
OH, I SAID, CRIP
- *C**yanotic Heart Disease (1,2,3,4,5 Ts)
- *R**espiratory disease (Meconium aspiration syndrome, pulmonary hypoplasia)
- *I**nfection (GBS)
- *P**ersistent pulmonary HTN of the newborn (PPHN)
What is the workup (exam and investigations) of a cyanosed neonate?
What are the abnormalities in Tetralogy/Pentology of Fallot
Pulmonary stenosis
Right ventricular hypertrophy
Overriding aorta
VSD
Pentology –> ASD
What is the classical presentation of Tetralogy of Fallot?
Murmur, cyanosis or congestive heart failure, typically develops over the first 6-12 weeks of life
If mild disease not picked up until later childhood. Presentation at this stage is characterised by FFT, clubbing of the fingers, reduced exercise tolerance and ‘Tet spells’
What is the management of a Tet spell?
Comfort the child
Rest younger infants against the parents shoulders with knees tucked in
Encourage older children to squat
O2, IV fluids
Beta-blockade and ICU support may be required
IM morphine can reduce pain and venous return
Phenylephrine is last line*
*Used to increase systemic venous resistance by direct simulation of peripheral alpha-adrenergic receptors.
The goal is to increase the systemic vascular resistance above the resistance of the pulmonary outflow tract so that blood in the right ventricle preferentially flows through the pulmonary circulation, rather than across the ventricular septal defect and into the systemic circulation.
What are the complications of Tetralogy of Fallot?
Heart failure is rare. But cyanosis –> polycythemia –> thromboembolism can occur. Infective endocarditis and cerebral abscess too!
What genetic abnormality is associated with TOF? What are the other features of this genetic condition?
CATCH 22q11 (Di George Syndrome)
Tetralogy of Fallot is famously associated with the deletion of the long arm chromosome 22
Cardiac anomalies (tetra, transpos)
Abnormal facies
Thymic hypolasia (T cell deficiency)
Cleft palate
Hypocalcaemia/hypoparathyroidism
What is the management of transposition of the great arteries?
Prostaglandins
Atrial baloon septostomy
Arterial switch is definitive surgical correction at 6-9 months
What ECG findings are there in TOF?
What murmur is heard in TOF?
Right ventricular hypertrophy
Coarse ES murmur on ULSE
What do you know about pulmonary atresia?
- This defect is a form of Tetralogy of Fallot
- Blood cannot enter the pulmonary circulation via the pulmonary valve.
- Blood entering the right ventricle moves into the left ventricle via an ASD/VSD or foramen ovale, is pumped via the left ventricle and then shunts back to the pulmonary circulation via the PDA.
- Survival depends on the ductus remaining open in the early days of life
- Cyanotic heart disease
- Surgical correction with a shunt is required immediately, with complete repair performed after age 1.
What do you know about truncus arteriosis?
A single ventricular outflow tract straddles a large VSD.
It has an abnormal valve.
Presents in newborn period with mild cyanosis and congestive heart failure.
The abnormal valve is often stenosed (systolic murmur) and may be regurgitant (diastolic murmur).
Urgent surgery
You examine a 2 year old and find:
Fixed splitting of S2
May have murmur at the upper left sternal edge
What is the diagnosis and management?
ASD
If symptomatic or causing R ventricular dilation, catheter closure at 3-5 years
Partial AVSD needs surgery at 3 years
Complete AVSD: 3-5 months
You examine a 2 month old and find:
Loud, pansystolic murmur with a thrill (in a patient with no symptoms)
What is the management?
Small VSD
Usually no treatment required, spontaneous closure
You examine a 2 month old and find:
Softer pansystolic murmur with a loud P2. R sided heave and heart failure. Cardiomegaly on CXR
What is the diagnosis, what is the manamagement?
Large VSD
Diuretics, captopril
Extra calories
Surgery at 3-6 months
Explain the splitting of the second heart sound
- Normally, the pulmonary valve closes a little after the aortic (A2, P2).
- During inspiration, venous return in increased at the R ventricle takes a little longer to empty.
- Blood pools in the lower pressures of the pulmonary circuit, reducing return to the left heart, which now finishes emptying a little sooner.
- Therefore, the split normally widens on inspiration
- During expiration, the right heart is given the chance to catch up a little and the split is narrowed
What is the management of VSDs?
- Stabilise with diuretics, ACEIs and high caloric diet
- Treat if:
- Heart failure or failure to thrive on medical management
- Pulmonary hypertension
- Aortic valve prolapse
- Infective endocarditis
- Surgical and trans-catheter options exist
What would you find on investigations of a VSD?
- Small VSD may have no abnormal findings
- Larger VSDs may demonstrate cardiomegaly and pulmonary plethora of CXR
- Biventricular hypertrophy can be shown on ECG
- Diagnose with echo
What is the relationship between large VSDs and the aortic valve?
High flow VSDs can suck in the nearby aortic leaflet by the Venturi effect and cause aortic regurgitation
What are the differentials for a shocked neonate?
What are the differentials for a cyanosed neonate?
What are the differentials for infants with heart failure?
What do you check on a paediatric cardio exam?
Which congenital heart defects increase the risk of infective endocarditis?
Essentially all congenital heart abnormalities increase your risk, except for secundum ASDs
8 year old with pallor and bone pain, what is your spot diagnosis?
ALL until proven otherwise
What is the main risk you worry about in immune thrombocytopaenic purpura and how common is it?
Intracranial haemorrhage - 1% of ITP cases
What are the features of anaemia in a child?
- Pallor – conjunctival, palmar crease
- Fatigue, listlessness
- Poor growth
- Flow murmur
- Air hunger (severe)
- Hypotension and cardiac failure (severe)
- Iron deficiency can present with poor attention span, irritability and pica (eating dirt, clay, ice etc)
What are the causes of iron deficiency in a child?
Malabsorption and occult blood loss (although rare) should be considered, but usually after failure of dietary measures.
Polyps, haemangiomas, Meckel’s diverticula and hereditary telangectiasia are rare causes of GI blood loss.
What are the differentials for normocytic anaemia in a child?
What are the differentials for microcytic anaemia in a child?
What is the haematological aspect of parvovirus B19?
One of the most common and serious complications of parvovirus B19 infection is transient aplastic crises in patients with chronic haemolytic anaemia such as sickle cell disease and hereditary spherocytosis. Pure red cell aplasia may also develop with a persistent infection of parvovirus B19 in immunocompromised individuals.
A five year old presents with pallor, lethargy, difficulty concentrating worsening over the past few months. What investigations will you order?
FBE
Blood film
Ferritin
Reticulocyte count
You diagnose an 8 year old girl with Fe deficiency anaemia, what is your management advice to the parents?
What is the presentation of factor dysfunction vs platelet dysfunction?
A 6 year old child presents with petechiae, what are your differentials?
SHIELD
A 5 year old girl has an isolated raised APTT, what are the possible causes?
A raised APTT in the absence of anticoagulant therapy suggests a deficiency in a factor or an inhibitor.
An inhibitor is usually an antibody made against a factor, such as lupus anticoagulant or antibodies formed by haemophilia patients receiving recombinant factors
What is the peak incidence of immune thrombocytopaenic purpura in children?
2-5 years
What is the classical presentation of ITP?
What do you find on examination?
What do you find on investigations?
Presentation
Clinical manifestations of platelet disorder develop acutely – mucosal and skin petechiae, epistaxis, rectal bleeding, haematuria, bleeding gums
Examination
Normal examination – no pallor, no lymphadenopathy or hepato-/spleno- megaly (exclude leukaemia)
Investigations
FBE –> thrombocytopaenia, blood film shows isolated low platelets with no other findings
A bone marrow aspirate is an invasive procedure with some morbidity in children who bruise easily, and is only necessary if the diagnosis is uncertain. It is rarely necessary in uncomplicated ITP.
ITP is a diagnosis of exclusion, but an FBE and blood film may be sufficient for diagnosis if Hx and Ex consistent.
It can be thought of as isolated thrombocytopenia with no other suggestive findings on Hx, Ex, FBE or blood film.
In ITP what level of platelets makes you worry?
Platelets consistently under 10
How long does ITP typically take to resolve in kids with conservative or active treatment?
Untreated 75% in 6 weeks, 90% will resovle within 6 months
With standard dose steroids 1 week
With high dose steroids 2-4 days
With IVIG 1-3 days
What are the stepwise treatment options for ITP? What advice do you give the parents?
-
Safety precautions are key
- Allow for generous supervision, especially of young children
- Avoid contact sports or any moderate-impact activity
- Regular follow up
- Parents must receive thorough education
- Avoid NSAIDs and 5-ASA
Splenectomy is a last line option. Often very effective but vaccinations and life-long antibiotic prophylaxis required.
What is the typical presentation of haemophilia?
Neonates
- Often picked up on screening due to FMHx
- Cord blood can be used for genetics and coagulation studies
- Intracranial haemorrhage, severe birth bruising and excessive bleeding after circumcision can suggest the disese
Older children
- Haemarthroses tend to occur in walking children
What is the management of haemophilia?
- Mild-moderate haemophilia A can be treated with DDAVP after appropriate challenge test (>5y/o)
- Not adequate for major bleeding
- Tranexamic acid can reduce mucosal bleeds and epistaxis
- Severe disease can be treated with 25-40 units/kg of recombinant factor concentrates three times a week.
What are the clinical features of leukaemia?
Auer rods = ?
AML (less common than ALL)
What is the initial work up of a child with suspected leukaemia?
- CXR is used to investigate the possibility of mediastinal masses (occurs in 50% of T-ALL).
- Lumbar punctures are mandatory to detect occult CNS infiltration. They are often delayed until treatment has begun to reduce the risk of seeding into CNS. Also because often thrombocytopenic
Many more tests are done. This is the realm of a paediatric oncologist. Tumour lysis bloods, liver and renal function, lactate dehydrogenase and coagulation studies all form part of the initial work-up at baseline.
What is the cure rate of ALL?
What are the general principles of chemotherapy approaches to ALL?
What steps are taken to reduce the chances of tumour lysis syndrome?
It is commonly quoted that cure rates (in children) are 80%. The current rate is probably higher, especially in low risk disease.
Remission Induction
- Aims to eliminate 99% of the tumour cell population. This should achieve normal haematopoiesis and functional status.
- Does the ‘heavy lifting’ –> remaining treatment is about total eradication, relapse prevention and cure
- High risk of tumour lysis in early chemo.
- the breakdown products of dying cells causes hyperkalaemia, hyperphosphataemia (which causes hypocalcaemia), high blood uric acid and high urine uric acid and consequent acute uric acid nephropathy and acute kidney failure.
- Tumour lysis prevention:
- bicarb to alkylise urine and prevent uric acid crystal formation in kidney
- allopurinol
- fluid diuresis
- monitor all electrolytes
CNS protection
- Most chemo penetrates the BBB poorly
- Intrathecal and IV methotrexate can obviate the need for cranial irradiation (CI). CI is still used for overt CNS disease or high risk patients.
A child presents with petechiae on their lips, eyes and gums but nowhere else, what are your differentials?
Strangulation/NAI
Vomiting
Coughing
+ other causes of petechiae (SHIELD)
Why do kids with ITP and really low platelets not bleed as much as you’d think?
Immature megakaryocytes in BM churning out platelets. The platelets are young/healthy/sticky. Vs kids with cancer with same low platelet count who will bleed because unhealthy platelets.
What are analgesic options for kids?
· Oral – paracetemol, ibuprofen, oxycodone
· Intranasal – fentanyl (device that makes a mist out of it)
· IV – morphine, ketamine
· IM – (rare) ketamine, morphine
· Local anaesthetic
What things do you assess when examining for dehydration in a child?
- Wet nappies
- Tears
- Fontanelles
- Skin turgor
- Mucus membranes
- Cap refill
- HR/BP
- Weight
- Vomits/diarrheoa
- Alertness
Newborn with cough, cyanotic episodes with feeding, respiratory distress, recurrent pneumonia, what is the diagnosis?
Tracheo-oesophageal fistula
What are the differentials for projectile vomiting?
pyloric stenosis (if age 2-7wks)
duodenal atresia
What is a SUFE?
How does it present, how is it diagnosed and what is the treatment?
A ‘Slipped Upper Femoral Epiphysis’ (also called a ‘SUFE’) is when the femoral epiphyseal plate is weak and the ball head of the femur slips downward and backward. The exact cause of this condition is not known.
A ‘SUFE’ is not usually associated with an injury. The symptoms often develop slowly - over several months - and may seem like a pulled muscle in the hip, thigh or knee. It is important to get an early diagnosis and treatment before the slip gets worse and children may need to have the unaffected side treated as well to prevent future slipping.
Clasically happens to obese teenage boys, can be bilateral
True hip pathology causes GROIN pain!
Signs and symptoms
Groin, hip, thigh or knee pain. (Some people only have knee pain, even though the condition affects the hip)
Limp
Limited movement of the hip joint
There may be slight shortening of the affected leg.
Diagnosis
Diagnosis is usually made by physical examination of hip movement and an x-ray.
Attached X ray shows how in the abnormal side the line does not cut off the femoral head like it should
Management
Surgical correction with screw
What features differentiate septic arthritis from post viral synovitis?
Refusal to weight bear
Fever (>38.5)
Raised WBC
ESR >40
CRP >20
At what age does crying peak?
6 weeks, it gets better after that
A child in brought in to the ED for some totally benign condition (like an URTI). You need to give the parents advice on what situations should prompt them to bring the child back in to ED, what do you tell them.
Bring them back if:
- They become dehydrated (because of vomiting/diarrheoa) with poor oral intake and no wet nappies
- Become drowsy or not responsive to interactions
- Puffing very hard or finding it difficult to breathe
- Uncontrollably irritable, not able to be soothed
You are trying to find a localising source of a young child’s fever. They have a history of vomiting, what does that tell you?
Nothing, vomiting is not a localising sign in a kid. Could be anything from UTI to meningitis.
A child presents to ED with a fever, you don’t think it’s serious. What conditions do you need to rule out before sending them home?
Meningitis
Pneumonia
UTI
Sepsis
What are the diagnostic criteria for febrile convulsions?
What additional criteria apply to simple vs complex febrile convulsions?
Febrile convulsions / seizures are seizures in which
- Fever >38 degrees
- No evidence of CNS infection
- No history of afebrile seizures
- No history of neurological deficits or developmental delay
Simple febrile seizures are
- generalized tonic and/or clonic seizures
- Short in duration
- Do not recur within the same febrile illness
Complex febrile seizures are
- focal features at onset or during the seizure
- duration of more than 15 minutes
- Recurrence within the same febrile illness
- Incomplete recovery within 1 hour.
At what age do febrile convulsions typically occur?
6 months to 6 years
How common are febrile convulsions?
3 in 100 babies
What investigations should you order for a febrile convulsion?
Bedside tests
- BGL – this is the only investigation you should do if the child is >6 months and the source of the fever can be identified
- Urine dipstick and MC&S
Bloods and urine
- FBE
- CRP
- Blood culture
- UEC / CMP
- check for electrolyte derangement.
- Feeding babies water bottles causes hyponatraemic seizures
Imaging
CXR if respiratory symptoms
Special tests
LP – low threshold if unknown source of fever.
From RCH “consider LP if the child is less than 12 months and not up to date with immunisations, if they are clinically unwell, or if they are already on oral antibiotics that may mask meningitis.”
What can you tell the parents of a child who has just had a febrile convulsion about his/her prognosis?
- Recurrence rate depends on the age of the child;
- the younger the child at the time of the initial convulsion, the greater the risk a further febrile convulsion
- (1 year old 50%; 2 years old 30%).
- the younger the child at the time of the initial convulsion, the greater the risk a further febrile convulsion
- Risk of future afebrile convulsions (epilepsy) is increased by:
- family history of epilepsy,
- any neurodevelopmental problem,
- atypical febrile convulsions (prolonged or focal).
- With none of these risk factors risk of recurrence is similar to the rest of the population (1%). With 1 risk factor, risk is 2%, with >1 risk factor, 10%.
The parents of a child who has just had a febrile seizure ask about what they can do to prevent it happening again, what do you tell them?
- Fever control:
- minimal clothing, nappy alone or light outer layer depending on ambient temperature
- Tepid sponging, baths and fans are ineffective at lowering core temperature and are NOT recommended
- Paracetamol has not been shown to reduce the risk of further febrile convulsions. It may be used for pain/discomfort associated with febrile illnesses (e.g otitis media),it should not be solely used to control fever
- If the seizure recurs, roll him onto his side and allow him to fit, Seizure should not last longer than 3-5 minutes. Any longer and an ambulance should be called.
- If Henry was to have recurrent or prolonged febrile seizures, prophylactic oral diazepam or rectal diazepam (rescue therapy) may be prescribed
In hospital, how long would you allow a febrile convulsion to continue before commencing active management with benzos?
5-10mins
Is the response (or lack of response) of a child’s fever to paracetemol significant?
No, not at all
Does teething cause fever?
Teething will not cause fever > 38.5oC
A parent brings a febrile child to you, what do you do on history and exam?
History
- Headache (if child can talk)
- Photophobia (if child can talk)
- Cough
- Coryza
- Diarrheoa
- Vomiting
- Abdominal pain
- Joint symptoms
- Dysuria/foul smelling urine
- Travel history
- Sick contacts
- Immunisations
Exam:
- Vitals, general appearance, conscious state
- Neck stiffness
- ENT examination
- Work of breathing
- Abdominal exam
- Skin rash
- Joint swelling
What are the clinical indications for antibiotics in children with painful otitis media
- Sick child with fever
- Vomiting
- Red-yellow bulging TM
- Discharge
- Loss of TM landmarks
- Persistent fever and pain after 3 days of conservative approach
- Bilateral AOM
*
How common is Down’s syndrome?
What increases the risk?
Birth incidence is about 1 in 1000 live births.
Overall incidence rises after maternal age of 35 years.
How common are cardiac conditions in babies with Down’s syndrome?
50% have congenital heart defects
particularly AVSD
What is the risk of miscarriage associated with CVS vs amniocentesis?
CVS = 1% above the background risk
Amniocentesis = 0.5%
When in pregnancy do you perform CVS vs amniocentesis?
What are the advantages of CVS?
What are the advantages of amniocentesis?
This is a 3 year old child. What is the diagnosis?
What is the management?
What is the prognosis?
Diagnosis = herpes simplex gingivostomatitis
Management = Pain relief (codeine may be required as it is very sore). Antivirals inneffective
Prognosis =
Child may have a fever and become irritable, a day or two later ulcers develop on the lips and gums. These are painful and often lead to drooling and a refusal to eat or drink, dehydration can occur. The pain normally subsides after 3-4 days, the blisters usually take from 10 -14 days to go away. The blisters never leave scars.
A 4 month old child presents with a fever but no clear focus of infection. What is your management?
What are the different types of nephrotic syndrome in kids?
Idiopathic Nephrotic Syndrome (90% of presenting children)
- Minimal change disease
- Focal segmental glomerulosclerosis
- Also called steroid-sensitive nephrotic syndrome as 80+90% of cases will respond to initial steroid therapy
Non-idiopathic Nephrotic Syndrome (rare)
- Secondary
- SLE
- Henoch Schonlein Purpura
- Membranoproliferative GN
- Membranous nephropathy
- Congenital nephrotic syndrome
What is the prognosis of minimal change disease/focal segmental glomerulosclerosis?
- 80% of children with Minimal change will relapse
- Steroid-responsive patients have little risk of chronic renal failure
- Patients with FSGS may initially respond to steroids but later develop resistance
- Many children with FSGS progress to end-stage kidney failure
- Recurrence of FSGS occurs in 30% of children who undergo renal transplantation
What do you know about membranoproliferative glomerular nephropathy in kids?
What do you know about membranous glomerular nephropathy in kids?
Membranoproliferative glomerulonephritis
Characterised by hypocomplementemia (low C3 and C4) with signs of glomerular renal disease
5 to 15% of children with primary nephrotic syndrome
Typically persistent
Has a high likelihood of progression to renal failure over time
Membranous nephropathy
Less than 5% of children with primary NS
Seen most commonly in adolescents and children with systemic infections
Hep B, syphilis, malaria and toxoplasmosis
Or on specific medications
Gold, penicillamine
What are the clinical features and management of testicular torsion?
Usually neonates or teenagers
Sudden onset testicular pain and swelling; occasionally nausea, vomiting.
Note: pain may be in the iliac fossa, may be associated with sports activity
Discolouration of scrotum; exquisitely tender and swollen testis, riding high. Cremasteric reflex is usually absent.
Management: Early surgical consultation is vital, as delay in scrotal exploration and detorsion of a torted testis will result in testicular infarction within 8-12 hours. Keep the child fasted.
What is the management of pulled elbow?
- Perform a reduction manoeuvre (see below)
- expect distress and pain
- a click may be felt over the radial head
- review after ten minutes
- if reduction fails, consult with senior medical staff
https://youtu.be/-0ROu4hCXwQ
Colicky abdo pain, kid goes white when pain comes on, bilious vomiting
What is the diagnosis?
Intussusception
At what age does intussusception typically occur? What typically causes it?
Primary – ages 3 months – 2 year olds
Ileocaecal location
Idiopathic
Secondary – ages 4 years – 12 year olds
Ileoileul location
Mesenteric lymph nodes
HSP –> pathological lead point of submucosal haemorrhage
Meckels diverticula
Haemophilia –> submucosal haemorrhage
What is the management of intussusception?
- Fluid resuscitation
- Analgesia
- Air enema
- Definitive surgery if necessary
What is the best way to describe intussusception to parents?
Like a sock folding in on itself
When is meconium normally passed?`
99% in first day
Rest in second day
If not passed on 3rd day it’s a sign of abnormality
How do you differentiate between meconium ileus and hirschprungs?
In hirschprungs on rectal exam there is explosive discharge of flatus and faeces
What is the formal investigation to confirm hirschbrungs?
Suction rectal biopsy
A mother with a child with hirschprungs disease asks what the chances of her next baby having the condition, what do you say?
3-5%
What is the carrier rate for the cystic fibrosis gene in the Caucasian population?
What is the incidence in the genpop?
(This is frequently examined)
1/25
1/2500
What conditions are associated with duodenal atresia?
Cardiac defects
Down syndrome
How would you show an OSCE examiner that you had pyloric stenosis as a DDx in an OSCE?
Ask if either parent had pyloric stenosis when they were born.
The parents of a child with pyloric stenosis ask you what the chances of their next baby having the condition are, what do you say?
20% chance
What do you tell the parents of a child who has just had a Ramstedt procedure?
The vomiting may continue for 3 - 5 days, that is normal.
What is the most likely cause of vomiting in neonates of different ages in Monash OSCEs?
That is, in Monash exams what causes vomiting:
Immediately after birth
First few days after birth
3-4 weeks after birth
Immediately after birth = duodenal atresia
3 days after birth = malrotation with volvulus
First few days of life with failure to pass stools = MI or Hirschsprungs
3-4 weeks after birth = pyloric stenosis
What are the different RCH levels of dehydration and their associated clinical presentations?
Mild dehydration = No signs
Moderate dehydration = 4-6% depleted - Signs of dehydration
Severe dehydration is >= 7% depleted - Shock
For the purposes of calculation of fluid requirements use:
Mild - 3%
Moderate - 5%
Severe - 10%
A 6kg infant is moderately shocked, what IV fluids do you prescribe?
First: For shock give 10-20ml boluses of normal saline until signs of shock improve.
Second: Replace deficit, so for a 6kg kid if they’re moderately shocked that approx 5%, so their deficit is approx 300ml, give 300ml normal saline
Third: Give maintenance fluids using normal saline + 5% glucose. Using the 4,2,1 rule for a 6 kg infant that is 24ml/hr of normal saline + 5% glucose.
Monitor electrolytes daily and consider adding 20mmol K
Child with acute onset diarrheoa + abdo pain that has now been going for 16 days, what is the diagnosis?
Cryptosporidium
Giardia Lamblia
What are the features of diarhoea caused by salmonella species and shigella?
dysentery w blood, pus, pain and tenemus
What investigations do you order for a kid with acute onset diarrheoa?
Bedside
None
Bloods and urine
UECs and glucose a minimum if commencing any IV rehydration
Cultures
Faecal culture and MCS if significant abdominal pain, blood or mucus, or septic child
Faecal ova, cysts and parasites – if considering parasitic causes
C difficile toxin if recent use of antibiotics
A child had an an episode of diarrheoa, abdo pain and fever that came on suddenly and lasted for 3 days. It’s now two weeks later and they’re feeling better, but still having watery diarrheoa. What is the diagnosis?
What’s the management?
Post-gastroenteritis lactase deficiency
Mx - Lactose free diet for a few weeks
2 year old boy recently arrived from Iraq has a 1 year history of diarrhoea with significant weight loss. On examination he has a distended abdomen and wasted buttocks.
Coeliac disease!
James, an 18 month old child has chronic diarrheoa and a distended abdomen. You suspect coeliac disease, what investigations will you order?
Bedside
NA
Bloods
- (not anti TTG or IgA like normal as low sensitivity under 2 years)
- Anti Gliadin
- HLA testing
- Screen for T1DM and thyroid disease
- FBE
- May show microcytic or macrocytic anaemia from iron or folate deficiency
- U&E
- may reveal reduced concentrations of calcium, magnesium, total protein, albumin or vitamin D
Imaging
None
Special
Gastroscopy and small bowel biopsy
What is the management of coeliac disease?
Exclusion of gluten (barley, rye, wheat, and oats)
Dietary fortification – iron, folate, calcium and vitamin D
How common are undescended testes?
1/25 boys born
What are the (informal) criteria for admission for a child with bronchiolitis?
SpO2 <93%
Oral intake <50% of normal
Parental anxiety
Or, if these criteria are not quite met but the condition is likely to worsen before it gets better (remember the worst symptoms are on day 2-4) then consider admission
What question should you ask every parent who brings their child to you for review?
What worries you the most?
What is the clinical picture of a mycoplasma pneumonia in kids?
What antiobiotic do you use?
Subacute onset, prominent cough, +/- headache, +/- sore throat
Roxithromycin PO for 10 days
A child presents with non-specific symptoms and a fever of 38.6, you give them paracetemol in the ED. Do you care if the paracetemol brings the fever down? Do you care if the paracetemol changes anything else?
The response of fever to paracetemol is not significant, and is not an indicate of illness severity.
However, if the child was tachycardic and the paracetemol does not bring their HR down, you would consider myocarditis. If it was myocarditis admit them for monitoring and supportive care.
What conditions cause bilious vomiting in a child?
- malrotation and volvulus
- duodenal atresia (if obstruction distal to Ampulla of Vater 80% of cases)
- jejunoileal atresia
- meconium ileus
- necrotising enterocolitis
When does meconium usually pass?
The first stool is passed within 24 hours of birth in 99 percent of healthy full-term infants and within 48 hours in all healthy full-term infants. Failure of a full-term newborn to pass meconium within the first 24 hours should raise a suspicion of intestinal obstruction.
What is this?
What is the condition associated with?
How is it diagnosed?
What is the management?
Exophalos (omphalocoele) - large defect at the umbilicus with herniation of bowel and liver into a sac covered by fused amniotic membrane and peritoneum.
Associations
Prematurity/IUGR
30% will have CVS defects
Also associated with trisomy 13 and 18, renal abnormalities and other syndromes.
Diagnosis
Usually diagnosed on the 12 and 20 week scans.
Aim is to then monitor them and deliver them in a tertiary centre.
Management:
- Glad wrap
- NG decompression
- IV Ab and fluids
- Catheter to monitor fluid output
- Heater
- BSL
- Look for associated malformations
- Delayed operation (as often unstable initially).
- appendix is removed and the goal is to get it all inside the abdomen. This is not always possible and thus a ‘silo reduction’ may be used.
What is this?
What is it associated with?
How is it diagnosed?
What is the management?
Gastroschisis - defect immediately to the right of the umbilicus through which bowel (and sometimes gonads) herniate. There is no covering sac and the eviscerated small and large bowel is thickened and densely matted with exudate as the result of amniotic peritonitis before birth.
Associations
Prematurity/IUGR
Related to maternal drug use.
Diagnosis
Usually diagnosed on the 12 and 20 week scans.
Aim is to then monitor them and deliver them in a tertiary centre.
Management:
- Glad wrap
- NG decompression
- IV Ab and fluids
- Catheter to monitor fluid output
- Heater
- BSL
- Look for associated malformations
- Immediate operation
- appendix is removed and the goal is to get it all inside the abdomen. This is not always possible and thus a ‘silo reduction’ may be used.
What key developmental milestones do you know?
The 9 S’s of development
Neonate
6 weeks
3 months
6 months
9 months
12 months
18 months
3 years
5 years
What are the causes of petechiae in a child?
SHIELD + vWD
vWD less likely to be acute diagnosis. The story is “abnormally prolonged bleeding when prompted (like teeth brushing)” versus SHIELD which is acute onset petechiae
Why do you need to do a challenge test before prescribing a child desmopressin?
Because remember that desmopressin/DDAVP is just synthetic ADH. ADH causes aquaporins to be plugged in to the distal collecting tubule allowing for resorbtion of water which can cause dilutional hyponatremia. The challenge test it to make sure the kid doesn’t get hyponatraemic.
What do you know about post gastro lactase deficiency?
- Following infectious diarrhoea, infants may have temporary lactose intolerance.
- This sequela of acute gastroenteritis used to be prominent in infants
- This may be due in part to early oral feeding which aids mucosal recovery.
- Clinical features of sugar intolerance include:
- Persistently fluid stool
- Excessive flatus
- Excoriation of the buttocks
- Typically, these infants appear well.
Breast feeding should continue unless there are persistent symptoms with buttock excoriation and failure to gain adequate weight. Formula-fed infants should be placed on a lactose-free formula for 3–4 weeks.
What is “toddler’s diarrheoa”, what is the management?
A clinical syndrome characterised by chronic diarrhoea often with undigested food in the stools of a child who is otherwise well, gaining weight and growing satisfactorily. Stools may contain mucus and are passed 3–6 times a day; they are often looser towards the end of the day.
Onset is usually between 8 and 20 months of age.
Management
Reassurance and explanation. No specific drug or dietary therapy has been shown to be of value in toddler diarrhoea.
A child presents with fever and malaise for 2 days. What are your systems review questions?
- Headache/neck stiffness/photophobia/Rash
- Cough, coryza, sore throat
- Dysuria/frequency
- Vomiting/diarrheoa/abdominal pain
- Joint or elsewhere pain?
- Contacts
- Travel
- Immunisations
- Intake/vomiting/urine production
How many hours after the onset of symptoms does irreversible ischaemic injury occur to a torted testicle?
6 hours
What are your differential diagnosis for an acute scrotum?
What are the distinguishing feartures on history and exam of each of these conditions that will help you differentially diagnose each of them?
-
Tumour
- painless
-
Henoch Schonlein purpura
- purpuric rash on testicle
-
Varicocele
- bag of worms, left side, teenager
-
Hydrocele
- transilluminates, soft, can feel testis
- Incarcerated inguinal hernia
-
Epididymoorchitis
- fever, nausea, vomiting, urinary symptoms
-
Torsion of the appendix testis (hydatid of Morgagni)
- More gradual onset. Focal tenderness at upper pole of testis; “blue dot” sign - necrotic appendix seen through scrotal skin.
-
Torsion
- Sudden onset testicular pain and swelling; occasionally nausea, vomiting. Discolouration of scrotum; exquisitely tender and swollen testis, riding high. Cremasteric reflex is usually absent.
-
Idiopathic scrotal oedema
- It usually affects boys between 5-9 years of age.
There is insidious onset of redness and swelling of perineum or inguinal region (groin), extending to scrotum. It may be itchy but is not often painful.
An 8 year old presents with an acute scrotum, what will you do on examination?
- observation of the patients gait and resting position
- natural position of the testis in the scrotum while standing
- presence or absence of cremasteric reflex (this is absent in torsion)
- palpation of lower abdomen, inguinal canal and cord
- palpation of scrotum and contents, compare with unaffected hemiscrotum
- transillumination
- Is the swelling reducible?
What are the causes of chronic diarrheoa in a child?
Without failure to thrive
- Infectious
- Bacterial - campylobacter, salmonella
- Antibiotic induced - C difficile colitis
- Parasitic - Giardia lamblia
- Post-infectious - secondary lactase deficiency
- Toddler’s diarrhoea
- Lactase deficiency (lactose intolerance)
- Irritable bowel syndrome - a diagnosis of exclusion in an older child/adolescent
Chronic diarrhoea with failure to thrive
- GI causes
- Coeliac disease
- Milk protein allergy - cow’s milk, soya protein, etc.
- Inflammatory bowel disease
- Pancreatic insufficiency –> Cystic fibrosis
- Others
- Thyrotoxicosis
- Food allergy
What is the paediatric clinical picture of coeliac disease?
The classical presentation is of a profound malabsorptive syndrome at 6-24 months of age after the introduction of wheat-containing weaning foods (e.g. steatorrhoea, vomiting in some cases).
- FTT with poor appetite
- Steatorrhoea
- Anorexia, nausea and vomiting, abdominal pain
- Abdominal distention
- Buttock wasting
- General irritability, apathy and fatigue - consider Fe deficiency
Presentation is highly variable, and may be less acute later in childhood.
What causes constipation in kids?
What is the management?
Most commonly functional constipation (99%) - due to lack of fibre, poor fluid intake, behavioural things (especially around toilet training), and changes in diet (esp. when changing to cow’s milk).
Management
Clean out + maintain with stool softeners and adequate fibre. Address any underlying problems. This may need to be done multiple times.
What is the management of gastro in a child?
Basics
- Keep breastfeeding
- Regular small volume flood intake
- Ondansetron
Place and person
Admit the following:
- Infants with moderate-severe dehydration
- Diagnosis in doubt
- Those who are high risk of dehydration (keep in hospital for 4-6 hours):
- Infants
- Infants
- High frequency diarrhoea (8 per 24 hours)
- High frequency vomiting (>4 per 24 hours)
Investigations
- Mostly not required.
- UECs and glucose - if severe dehydration and needs resuscitation.
- If there is significant abdominal pain, or blood or mucus in the stools, or if the child appears septic
- Faecal culture
- Faecal leukocytes or blood
- Faecal ova, cysts and parasites - when considering parastic infections
- C difficile toxin (faecal) - if recent use of antibiotics
Definitive
Oral, NG or IV rehydration
There is no role for antibiotics in bacterial gastroenteritis.
Long term
Early feeding as soon as rehydrated reduces stool output and aids gut recovery. Anti-diarrhoeals and maxalon are not recommended.
At what age does foreskin typically become retractible?
What is the treatment of true phimosis?
The proportion of boys with retractile foreskins is: 40% at 1 year, 90% at 4 years and 99% at 15 years.
Management of true phimosis
- 0.05% betamethasone cream should be used twice daily for 2 to 4 weeks.
- Gently retract foreskin without causing any discomfort and apply a thick layer of cream to the tightest part of the foreskin.
- Circumcision (if significant phimosis and steroid creams fail)
What is smegma?
What is Balanitis?
Smegma = white/yellow lumps are called smegma and are made up of the cells that once attached the foreskin to the head of the penis. Smegma is normal and will eventually disappear. No treatment is needed.
Balanitis: severe inflammation of the glans penis +/- foreskin is often due to infection and is usually termed balanitis. Tx is Soaking in a warm bath with the foreskin retracted plus topical steroid.
What pathogens typically cause encephalitis in a child?
- Enterovirus
- HSV
- Other herpes viruses (EBV, CMV, HHV6, VZV)
- Arboviruses.
- Less commonly, encephalitis can be caused by bacteria, fungi or parasites.
What pathogens typically cause meningitis in kids below 2 months of age?
What about kids above 2months?
What empirical drugs do you use in each of these age groups?
Below 2 months of age
- Group B streptococcus
- E. coli and other Gram-negative organisms
- Listeria monocytogenes
- Plus the below….
Use cefotaxime and ben pen
Above 2 months of age
- Streptococcus pneumoniae
- Neisseria meningitidis
- Haemophilus influenzae type B (in unimmunised children)
- As a result of immunisations Hib meningitis is now rare and there has been a reduction in the incidence of pneumococcal meningitis.
Use ceftriaxone and dexamethasone
What is this? What is the management?
Ballooning of the foreskin during urination due to physiological phimosis.
In itself is not a concern, no need for management, will resolve as phimosis resolves.
What is the clinical picture of NEC?
What do you see on Xray?
- Pre-term baby, typically in the 2nd-3rd week of life
- Infant stops tolerating feeds –> vomiting (bilious sometimes)
- Abdominal distention
- Rapidly becomes shocked
- Other features:
- Bloody stools
- Pneumatosis intestinalis - gas cysts in the bowel wall; diagnostic for NEC
- Diminished bowel sounds
- Signs of bowel perforation - sepsis, shock, peritonitis, DIC
What is a SUFE?
What are the different ways to classify the condition?
Slipped upper femoral epiphysis (SUFE) is the most common hip disorder in the adolescent age group. It occurs when weakness in the proximal femoral growth plate allows displacement of the capital femoral epiphysis. The metaphysis displaces anteriorly and superiorly, leading to the slipped state.
There are a number of ways that SUFE can be classified
Stable vs unstable
The patient is able to weight bear on the affected leg (stable) versus unable to weight bear even with crutches (unstable).
Acute, chronic or acute on chronic
Acute = Sudden onset of severe symptoms and inability to weight bear
Chronic = Gradual onset and progression of symptoms for more than 3 weeks, without sudden exacerbation. This is the most common presentation (85% of patients with SUFE)
Acute on chronic = Sudden exacerbation of symptoms due to acute displacement of a chronically slipped epiphysis
Radiographical degree of displacement
Type I (0 to 33% displacement) Type II (34 to 50% displacement) Type III (\>50% displacement)
The likelihood of complications increases with displacement
A 12yo obese boy comes in with a sore hip, you think it’s a SUFE, what examination could you perform to confirm this?
A very reliable sign of chronic SUFE is detection of obligatory external rotation during flexion of the hip. As the hip is flexed on the affected side, the thigh will automatically rotate and abduct
What are the differences betweeen omphalocele and gastroschisis?
What are the causes of a limp/non-weight bearing in a child?
HAI! DONT TAP SAM
H - HSP
A - Appendicitis
I - Inguinoscrotal pathology/testicular torsion
D- DDH (age 1-4)
O- Osteomyelitis/septic arthritis
N- NAI
T- Toddler’s fracture (age 1-4)
T- Transient synovitis
A- Arthritis/JIA
P- Perthes disease (age 4-10)
S- SUFE (aged >10)
A- Articular or non-articular stress fracture
M- Malignancy (ALL)
What do you know about Perthe’s disease?
A self-limiting disease of the femoral head comprising of necrosis, collapse, repair, and re-modelling that presents in the first decade of life and is more commonly seen in boys.
Presentation
- An occasional limp in the early phase
- Knee pain
- Worsening pain and limping as the disease progresses
- Pain in the knee, thigh or groin on movement or when putting weight through the leg
- Decreased movement
- Uneven leg length – the affected leg may become shorter
Investigation - Xray +/- MRI
Management
If the hip joint is only mildly affected, no immediate treatment may be required. If there is pain or stiffness, they will need to rest to relieve the hip joint from weight-bearing movements (no high-impact activities, like jumping or running, until the joint has recovered.) Low impact activities like swimming and gentle cycling are recommended. Ortho referral for consideration of surgical repair
Parents bring in a 9 month old boy and report than he gets a lump next to his penis when he cries, it is not there now. What investigations should you order.
None. This is an indirect inguinoscrotal hernia protruding through a patent processus vaginalis. If the duct was smaller it would just cause a hydrocele. There are no tests indicated. Ultrasound can not see anything.
What are the four different types of pathological jaundice in a neonate?
- Too early (
- Too high (More than 320)
- Rising too quickly (Increasing at a rate of greater than 85 micromol per day)
- Too late (more than 2 weeks)
What are the causes of late jaundice?
Depends whether it is conjugated or not…
Unconjugated
- G6PD
- Hypothyroidism
- Breast mild jaundice
- Sepsis
Conjugated
- Hepatitis due to TORCH infections
- Alpha1 antitrypisin
- Cholestasis due to biliary atresia or choledocal cyst
What are the acute signs and long term side effects of kernicterus?
Acute signs
- Lethargy/drowsiness
- Poor feeding
- Irritability
- Temperature instability
- Arching of the head, neck and back (opisthotonos)
- Seizures
Long term
- Death
- Permanent brain damage including:
- Athetoid cerebral palsy
- Deafness
- Mental retardation
What investigations would you order for a jaundiced neonate?
Frickety Fuck Bloody Mum Seems To Give Crappy Antibodies - Liver Ultrasound
FBE/Retics/film
Fractionated SBR
Bloood group and hold
Mothers blood type
Septic screen
Thyroid function tests
G6PD deficiency
Coombs Direct antibody test (detects IgG attached to RBCs suggesting autoimmune haemolysis)
Alpha1 anti-trypsin
LFTs
Ultrasound
Martha is fed up. She is 25 years old. An upper abdominal U/S has confirmed yet another gallstone, despite her cholecystectomy last year. She has mild splemegaly.
On history, she tells you that she was jaundiced at birth and, now that you mention it, she has occasionally gone yellow during periods of illness.
Her blood film shows:
Hereditary Spherocytosis
- Fairly common
- Usually associated with neonatal jaundice.
- These RBCs have a membrane defect, that causes their funny shape and predisposed them to destruction in periods of illness. May present with jaundice, anaemia and splenomegaly throughout life (even in adult life with recurrent cholelithiasis!)
What would you do for a kid with a Perthes disease?
What is the prognosis?
Orthopaedics referral
Normal recovery expected in 18-36 months
Femoro-acetabular contact is key to normal growth
Treatment depends on severity:
Symptomatic –> slings/braces –> broomstick plaster –> surgery
How do you detect a SUFE on xray?
Notice that a line along the lateral edge of the femoral neck does not cross the epiphysis on the affected side.
What are the forms of JIA?
- Oligoarthritis
- 4 or fewer joints affected in the first 6 months of the disease
- Broken down into normal and extended
- Polyarthritis
- 5 or more joints affected in the first 6 months of the disease
- RH - and RF +
- RF + is basically just RA, bad prognosis
- Systemic Arthritis
- Formerly called ‘Still’s disease’
- Systemic symptoms like fever, rashes, lymphadenopathy and hepatosplenomegaly predominant the early illess
- Beyond the joint
- psoriatic
- enthesitis (HLA B27+)
This is the knee of a 14yo boy who has just had a growth spurt. He has come in because his knee is very painful.
What’s the diagnosis?
What’s the treatment?
What’s the prognosis?
- Osgood-Schlatter syndrome is a painful knee condition that affects adolescents.
- It often occurs during a growth spurt and is associated with physical activity. Symptoms include pain and local swelling in the front of one or both knees.
- It is thought that the quadricepts tendon becomes tight and causes inflammation and micro-fractures in the tibial tuberosity.
- Diagnosis
- Clinical but get an Xray
- Management
- Physio referral for excercises
- Rest
- NSAID analgesia
- Prognosis
- The condition usually completely resolves within 12 months but the prominent tibial tuberosity will always be there.
What are the clinical features of the presentation of Still’s disease?
- High spiking (>39) fever, with resolution between spikes. May occur 1-2x daily.
- 95% have a salmon pink rash on the limbs or trunk that forms during the fever spike. Rash may be urticarial.
- The rash may be triggered by warm baths or skin irritation (Koebner phenomenon)
- Lymphadenopathy, hepatosplenomegaly often occur
- Pericarditis and pleuritis are common
- There may be severe anaemia.
- Joint disease may manifest months to years after systemic presentation.
This is an xray of a neonate, what is the diagnosis?
Boot shaped heart
Tetralogy of Fallot
What causes subglottic stenosis?
Who does this typically affect?
Damage from intubation
Presents with chronic fixed stridor
Classically an ex-preterm infant who had long term ventilation
May require endoscopic ablation to resolve
In a setence, what is duplex kidney and what complications can it cause?
The inferior ureter can insert low down in the bladder leading to VU reflex and hydronephrosis
What can you tell about this little girl?
Foetal alcohol syndrome
Most distintive features are thin upper lip and indistinct philtrum
This baby has just been born, he is on vigorous and is not crying. Should you stimulate him?
No, meconium stained liquor suggests he could have mec in his oropharynx. Suction his oropharynx first before stimulating. Intubate immediately.
What is a posterior urethral valve?
How common is it?
Why is it a problem?
What is it?
An abnormal leaflet of tissue exists in the urethra, causing an obstruction to urine flow. It is a developmental anomaly, present before birth and only affects boys.
How common?
PUV is rare, occurring in 1 in 4000-6000 boys
Why is it a problem?
Urethral blockage near the bladder makes it hard for the bladder to expel urine, so the bladder has to push harder to try to empty. This increases pressure in the urinary tract. The pressure may push the urine back through the ureters to the kidney and cause the ureters, kidneys and bladder to dilate (expand).
What are the investigations, management and prognosis of posterior urethral valves?
Investigations…
- UEC
- Ultrasound
- Micturating cystourethogram (MCU)
- This is the definitive test for PUV. It is performed with a catheter placed through the urethra into the bladder. Contrast material is injected through the catheter to outline the bladder. An X-ray is taken which will show the shape of the bladder, whether there is any back flow up the ureters (reflux). Xrays are taken to identify the contrast outlining the urethra and any internal obstruction (valve).
- Cystoscopy
- This is both a confirmatory and therapeutic intervention. It is a surgical procedure, performed under anaesthesia. A small telescope is placed inside the urethra to identify the obstruction. Treatment of the valves can be performed at the same time. Other tests may be needed to check the function of the kidneys, the drainage, and to monitor treatment
Management
Catheter insertion then ablation via cystoscopy
Prognosis
About one third will develop kidney failure at some stage, requiring dialysis or renal transplant.
About one third of patients will have a degree of renal impairment, managed with medication and diet.
About one third of patients will have normal kidney function, but may have ongoing issues with urinary tract drainage, infection and bladder function.
What are the causes of failure to thrive?
- PATIOS
- Psychosocial
- Absorption
- CF
- Coeliac
- Milk allergy
- Thyroid disease
- Intake
- Milk/formula supply
- Sucking
- GORD
- Output –> diarrheoa
- Sick
What is respiratory distress syndrome?
What is the clinical picture?
How can you prevent it?
How do you manage it?
What is it?
- Also known as hyaline membrane disease or surfactant deficiency syndrome
- Due to immaturity of the type 2 pneumocytes –> surfactant deficiency –> alveolar collapse –> stiff lungs –> increased WOB –> decreased tidal volume –> hypoxaemia –> respiratory acidosis
- Lung surfactant is only adequate by 30-32 weeks gestation
- RDS affects 50% of neonates with GA
- RDS affects almost 100% of those born
- Causes:
- Prematurity
- Perinatal asphyxia (hypoxia inhibits surfactant production)
- Maternal diabetes (delays surfactant synthesis)
- RDS affects about 1% of newborn infants and, along with NEC, is the leading cause of death in preterm infants
Clinical picture:
Signs of increased WOB (increased RR, nasal flaring, use of accessory muscles, grunting)
Hypoxaemia, cyanosis
Whether treated or not, the clinical course for the acute disease lasts about 2 to 3 days. During the first day the patient worsens and requires more support. During the second day the baby may be remarkably stable on adequate support and resolution is noted during the third day, heralded by a prompt diuresis.
Prevention
Antenatal betamethasone is used in the prevention of RDS, given to a mother expecting a premature baby (up to 24 hours before birth, should be given two courses. Unlikely to give beneficial effect if given >2 weeks prior to birth)
Mx
- Oxygen
- Nasal CPAP
- Surfactant administration (can be given down ETT!)
- Mechanical ventilation (severe)
- Non respiratory
- Attention to thermoregulation can reduce the severity of the condition
- Antibiotics commence penicillin and gentamicin therapy after initial investigations.
- Minimal handling
- No feeding until resolved
Describe the APGAR scoring criteria.
What is Turner’s syndrome?
What are some of the key features
XO females
- short stature
- infertility
- congenital heart defects
- spatial awareness issues – problems with tasks such as maths but otherwise normal IQ
- Amenorrhoea
- Hearing problems
- no breays
- extra skin (‘webbing’) on the neck
- puffy hands and feet
- low hairline.
Spot diagnosis
Turner’s syndrome XO females
- short stature
- infertility
- congenital heart defects
- spatial awareness issues – problems with tasks such as maths but otherwise normal IQ
- Amenorrhoea
- Hearing problems
- no breays
- extra skin (‘webbing’) on the neck
- puffy hands and feet
- low hairline.
What is the most common presentation of worms in kids?
How do you confirm the diagnosis?
How are the worms spread?
What is the management?
What is the prognosis?
Presentation
Itching around the anus (pruritus ani). The itchiness tends to be worse at night and can cause trouble sleeping. The itching is caused by an inflammatory reaction to the adult worm and eggs on the skin.
Diagnosis
Sticky tape the kid’s bum at night, examine the tape for worms/eggs.
How are they spread?
Through swallowing the eggs. When someone with pinworm scratches their anus, the eggs get lodged beneath their fingernails, and are then deposited on clothing and furniture. Uninfested individuals can come in contact with pinworm eggs and ingest them unknowingly. Infested individuals continue to ingest the eggs (auto-infection).
Other family members are at particular risk of pinworm infestation.
Management
- Pyrantel (Combantrin) or mebendazole (Banworm).
- Very safe medications
- Treat the entire household
- Shower the night before taking and the morning after. Wash all sheets in very hot water and vacuum the bedroom.
- Have the child wash his/her hands with warm soapy water for at least 10 seconds after going to the toilet.
Prognosis
Reinfection is very common
It’s a mild disease though so doens’t really matter
What is this?
What is the significance?
Salmon patch
Also known as nevus simplex or “angel kisses”, these are a common capillary malformations that are present at birth. Eyelid spots generally fade over several months. Lesions on the glabella may take several years to resolve, and occasionally the outlines can be seen into adulthood, especially when the face is flushed.
This is a newborn, what is the diagnosis?
What is the prognosis?
Milia are keratin filled epithethial cysts which occur in up to 40% of newborns. Spontaneous exfoliation and resolution is expected within a few weeks. Parents will occasionally mistake these lesion for neonatal acne, but milia are present at birth and have no inflammatory component.
When performing a newborn examination you feel a ridge over the suture sites adjacent to the anterior fontanelle. What is the diagnosis? What’s the significance/prognosis of this diagnosis?
Craniosynostosis
One or more of the fibrous sutures in an infant skull prematurely fuses by turning into bone (ossification), thereby changing the growth pattern of the skull. Because the skull cannot expand perpendicular to the fused suture, it compensates by growing more in the direction parallel to the closed sutures.
Sometimes the resulting growth pattern provides the necessary space for the growing brain, but results in an abnormal head shape and abnormal facial features. In cases in which the compensation does not effectively provide enough space for the growing brain, craniosynostosis results in increased intracranial pressure leading possibly to visual impairment, sleeping impairment, eating difficulties, or an impairment of mental development combined with a significant reduction in IQ.
Can you visualise and name the newborn fontanelles and sutures?
When do they close?
Anterior fontanelle closes at 18-24 months
Posterior fontanelle closes at 3 months
In what layers do cephalhaematomas occur?
Where on the head do they normally occur?
What do they look/feel like on examination?
What causes them?
What is the management?
Layers
Under periosteum of skull bone but superficial to skull
Where on the head
Usually parietal bones, because this is where forceps attach
What do they look/feel like?
Margins are firm w/ a soft fluctant centre. They do not cross suture lines (help in by periosteum).
What causes them?
The usual causes of a cephalohematoma are a prolonged second stage of labor or instrumental delivery, particularly ventouse.
Management
Phototherapy may be necessary if blood accumulation is significant leading to jaundice. Rarely anaemia can develop needing blood transfusion. Do not aspirate to remove accumulated blood because of the risk of infection and abscess formation. The presence of a bleeding disorder should be considered but is rare. Skull radiography or CT scanning is also used if concomitant depressed skull fracture is a possibility. It may take weeks and months to resolve and disappear completely.
What are the differences between caput succedaneum and cephalhaematoma?
What is this? What layers are involved?
What does it look/feel like on examination?
What is the management?
Caput succedaneum is a neonatal condition involving a serosanguinous, subcutaneous, extraperiosteal fluid collection with poorly defined margins caused by the pressure of the presenting part of the scalp against the dilating cervix (tourniquet effect of the cervix) during delivery.
It involves bleeding below the scalp and above the periosteum.
Features on examination
Caput succedaneum presents as a scalp swelling that extends across the midline and over suture lines and is associated with head molding.
Management
Caput succedaneum does not usually cause complications and usually resolves over the first few days.
What is a subgaleal haematoma? What are the features on clinical exam?
What causes it?
What is the management?
What are the complications?
What is it?
Subgaleal hemorrhage or hematoma is bleeding in the potential space between the skull periosteum and the scalp galea aponeurosis.
It presents as a fluctuant boggy mass developing over the scalp (especially over the occiput) with superficial skin bruising. The swelling develops gradually 12–72 hours after delivery, although it may be noted immediately after delivery in severe cases. The hematoma spreads across the whole calvaria as its growth is insidious and may not be recognized for hours. If enough blood accumulates a visible fluid wave may be seen.
Cause
The majority (90%) result from applying a vacuum to the head at delivery (Ventouse assisted delivery).
Management
Management consists of vigilant observation over days to detect progression.
Complications
The subgaleal space is capable of holding up to 50% of a newborn baby’s blood and can therefore result in acute shock and death. Fluid bolus may be required if blood loss is significant and patient becomes tachycardic. Transfusion and phototherapy may be necessary. Investigation for coagulopathy may be indicated.
Spot diagnosis?
Management?
Ankyloglossia
May require surgery if severe
Spot diagnosis?
Why is this diagnosis important?
Pierre Robin Sequence
microganthia and cleft palate can cause severe respiratory problems
List the childhood seizure disorders?
What are the most common causes of failure to thrive?
PATIOS
- Psychosocial
- Absorption
- CF
- Coeliac
- Milk allergy
- Thyroid disease
- Intake
- Milk/formula supply
- Sucking
- GORD
- Output –> diarrheoa
- Sick
What history questions would you ask the parents of a baby with failure to thrive?
What is this?
What are the other symptoms?
Who gets this condition?
What is the management?
What are the complications?
Measles
What are the symptoms?
- High fever
- Irritability
- Exudative conjunctivitis
- Rhinorrhea
- Otitis media
- Exanthem = mobilloform, blotchy and raised
- Enanthem = Koplik’s spots
Who gets it?
In developed countries –> unimmunised
In developing countries –> Malnourished and Vit A deficient
Management
Report, isolate, supportive
Complications
Complications can include otitis media, pneumonia and encephalitis. Measels specific IgM or IgG
What are the systems questions for asthma?
FIT CAMPSITES
F - Frequency and severity of attacks
I - Interval symptoms?
T - Technique using inhaler
C - Compliance with preventer
A - Atopy - personal or family history
M - Medications, past and current
P - Pets in the house
S - School missed
I - ICU or hospital admissions
T - Triggers
E - Exercise tolerance
S - Smokers in the house
What is the management of congenital Cryptorchidism?
What is the management of acquired Cryptorchidism?
A mother has a baby born at 30 weeks. She asks you what the complications of prematurity are and what you will do about them. What do you say?
SHIRTFRONT LAD AJ
Sepsis
Hypoglycaemia (<2.6)
Intraventricular haemorrhage
Respiratory distress syndrome/Meconium ileus syndrome
Transient tachypneoa of the newborn
Feeding difficulties
Retinopathy of prematurity
Osteopaenia of prematurity
NEC
Temperature instability
Leukomalacia (periventricular) Anaemia / Fe deficiency Developmental problems (ID, cerebral palsy)
Apneoa of prematurity
Jaundice
What are the three different forms of spina bifida?
What do you know about Trisomy 18?
- Edwards syndrome occurs in around one in 6,000 live births, and around 80% of those affected are female.
- The majority of fetuses with the syndrome die before birth.
- The incidence increases as the mother’s age increases.
- The syndrome has a very low rate of survival, resulting from heart abnormalities, kidney malformations, and other internal organ disorders.
Laryngomalacia
What is the presentation, management and prognosis?
Stridor in infancy, abnormal voice
Close monitoring, 85% chance will resolve by age 2 as cartilage hardens.
Laryngomalacia becomes symptomatic after the first few months of life( 2-3 months), and the stridor may get louder over the first year, as the child moves air more vigorously. Most of the cases resolve spontaneously and less than 15% of the cases will need surgical intervention.
What is this?
What is the management?
Naevus simplex
- Aka “salmon patch” or “stork mark”
- Pale pink to bright-red capillary vascular malformations
- Indistinct borders that blanch and become more prominent with crying and straining
- Commonly affects the forehead, glabella, upper eyelids and nape
- Prevalence 20-60%
- Most spontaneously disappear between age 1-3
- Thought to be related to immaturity of the vasculature
- Treatment usually not required
What is this?
What is the management?
Naevus flammeus - Aka “port wine stain”
- Capillary vascular malformations
- Unilateral, homogenous, red-to-violaceous macules involving the skin and sometimes mucosa.
- Darkens and thickens over time
- Incidence 0.3%
- Can occur anywhere but many involve the face and follow the distribution of the trigeminal nerve
- Largely a cosmetic concern but may be a marker for ophthalmologic or neurologic structural abnormalities
- Further investigation is warranted.
- Sturge-Weber syndrome = facial naevus flammeus + an ipsilateral vascular malformation of the leptomeninges and eye.
- Location of the naevus helps identify newborns at risk of underlying abnormalities.
- Parents of patients without V1 involvement may be reassured and informed about vascular laser as an option for treatment.
- Location of the naevus helps identify newborns at risk of underlying abnormalities.
What is this?
What is the management?
- Infantile haemangioma - Aka “strawberry naevus”
- Benign vascular tumours
- Occur in 5-10% of newborns. More common in premature infants
- Often unapparent at birth, they appear in the first few weeks of life, proliferate rapidly for several months, and then gradually fade over several years.
- Segmental haemangiomas have a linear or geographic distribution and are more likely to have associated structural abnormalities
- Those that are large or occupy the airway, eyes and vital organs can cause serious or life threatening complications. Prompt specialist referral is required.
- Prognosis
- Resolution is considered complete in 76% of children by age 7.
- 50% will have minor residual changes such as telangiectasia or wrinkling.
- Treatment goals – to prevent serious complications and permanent disfigurement.
- 1st line therapy = systemic prednisolone during the proliferative phase.
- 2nd line therapy = propanalol
- Laser therapy can sometimes also be an option
What is this?
What is the management?
Café au lait macules
- Usually noted in infancy and childhood.
- Solitary CALMs are common in up to 3% of healthy infants and 25% of children.
- Multiple CALMS are rare in healthy children.
- Majority of children with 6 or more CALMs will eventually be diagnosed with neurofibromatosis-1 (NF-1) potentially affecting multiple organ systems.
- Children with 3 or more CALMs should be monitored for other features of NF-1
- CALMs may also be seen in multiple other rare syndromes
What are the features of Scarlett fever?
Due to group A beta-haemolytic streptococci. An abrupt onset of fever, headache, vomiting, malaise and sore throat. Show a mobilliform exanthem and a “strawberry tongue” (bright red oral mucosa and palatal petechiae).
This photo is of a newborn. What is the diagnosis and management?
Erythema toxicum neonatorum
- Most common rash in infants, seen in up to 50% of newborns
- Begins as blotchy macular erythema
- Progresses to pustular/papular rash over trunk, face & extremities
- Usually appears on 2nd/3rd day of life, can appear as late as 2-3 weeks
- Distinguished from infection by lack of tenderness, warmth, or induration
- Cause unknown
- Self-resolving, typically by 5-7 days after appearance, usually by 2 weeks age
- Requires no treatment
What is the diagnosis?
What are the 2 forms of this condition?
What is the causative organism?
What is the management?
Diagnosis and forms
Impetigo is a highly contagious superficial, contagious, blistering infection of the skin also called “school sores” because it most often affects children.
It has 2 forms: non-bullous and bullous. Bullae are fluid-filled lesions of >0.5 cm in diameter.
Causative organism
Impetigo in patients from affluent communities is most commonly caused by Staphylococcus aureus, and less commonly by Streptococcus pyogenes. In patients from socioeconomically disadvantaged areas, such as remote Indigenous communities in central and northern Australia, S. pyogenes is often the primary pathogen.
Management
- In non-remote community settings suspect S. aureus as the pathogen.
- For localised skin sores, use:
- mupirocin 2% ointment or cream
- For multiple skin sores or recurrent infection, use:
- di/flucloxacillin 500 mg
- For localised skin sores, use:
- In remote community settings in central and northern Australia suspect S. pyogenes as the pathogen.
- benzathine penicillin 900 mg
A junior medical student asks you what the differences are between a caput, cephalhaematoma and subgaleal haemorrhage. What do you say?
What is this condition?
How common is it and what causes it?
What is the management?
Congenital talipes equinovarus (club foot)
1 in 1000 births, congenital
Management
Basics
Prenatal education, reassurance!
Place and person
Refer to ortho
Treatment should commence in the first week of life.
Definitive management
- Ponseti technique
- 4-6 weeks of toe to groin plaster casts
- Changed weekly with gentle manipulation of the foot
- Following casting, most cases (80%) require an Achilles tenotomy to correct residual deformity. This can be done under local anaesthetic by an orthopedic surgeon in the clinic.
- Boots and bar abduction brace
- Worn 23 hours a day for 3 months and then 14–16 hours, while asleep, until the child’s fourth birthday.
- Rarely, more aggressive surgical procedures need to be done – posterior medial release. This is more common in patients with comorbidities such as cerebral palsy.
Long term
The child is monitored every 3 to 6 months until 4 years of age. The child is then brought into the clinic every 1 to 2 years until reaching skeletal maturity.
Describe the management of acute asthma in a child, including what drugs you would use.
A parent brings their 7 year old to see you because his teacher thinks he has a learning disorder. You know that this is a complex condition with many different causes. How do you organise your thoughts as to what might be going on?
What are the differences between cows milk protein allergy and lactose intolerance?
What is the difference between membranous and muscular VSDs?
Different systems for describing the location of ventricular septal defects are used. Some are located in the lower portion of the septum called the muscular septum. Defects in this location are called muscular ventricular septal defects. Perimembranous ventricular septal defects (also called membranous VSD’S) are located in the membranous septum, a relatively small portion of the septum located near the heart valves.
In broad terms, what insulin regimes do you recommend for kids with T1DM?
Describe the RCH flowchart management of pneumonia in children? What antibiotics do you use?
Generally speaking BenPen IV (or amoxycillin PO)
But if suspect mycoplasma roxithromycin for 10 days
If suspect Staph Fluclox plus Gentamycin
If under 3 months add Gent
You are paged by a midwife because a 4 hour old baby is in respiratory distress. As you run to the SCN you think of all the causes of respiratory distress in the newborn. What are they?
https://app.box.com/s/7rd57a3q4f8a6odrcgwtk23n9rbum73t
What are the risk factors for testicular torsion?
- Occurs in boys of all ages but is most common in young adolescents
- Hx of previously self-limiting episodes
- Anatomical variation – bell clapper testes
- If torsion is confirmed, always fix both testes because these variants may be bilateral
- Undescended testes
What is a spermatocele?
How does it present?
What is the management?
An epididymal cyst filled with sperm
Non-tender and transilluminates – the only other scrotal mass that does this beside hydrocele!
Unlike hydrocele, the testis can be felt separately
Treat only if symptomatic
The ED registrar has called you to review a child because they have some suspicious bruises and they are concerned there could be child abuse/neglect. What questions will you ask the parents when you interview them?
CHILD WORD
C – Caregivers (who are all the people who look after the child)
H – Hospital presentations previously?
I – Injuries previously?
L – Little brothers and sisters? (Relevant to their safety as well)
D – Drug and alcohol use?
W – Wanted? Was the child planned?
– Crying, is the child often miserable? (can be cause OR effect of abuse)
R – Resources, financial and social. How is the family going?
D – Depression? Post natal or otherwise poor mental health?
Plus a normal paeds history including antenatal, birth, developmental and growth histories.
You are paediatric endocrinology and the consultant asks you what you know about congenital adrenal hyperplasia. What do you say?
- Autosomal recessive condition causing partial or total defect of enzymes required for cortisol and aldosterone production
- Occurs in 1/15,000 live births and is the most common cause of ambiguous genitalia
- The salt-wasting form of CAH is a medical emergency - babies can die of vomiting, dehydration and shock at 2-4 wks of age.
Etiology
- 21-hydroxylase deficiency causes 95% of CAH cases; this causes decreased cortisol and aldosterone with shunting toward overproduction of androgens
- Cortisol deficiency leads to elevated ACTH, which causes adrenal hyperplasia
Clinical presentation
Depends on the specific deficiency and the cause - may present with shock and hyperkalemia if not suspected. Can be divided into:
Salt-Wasting 21-Hydroxylase Deficiency (2/3 of cases)
Infants present with shock, FTT, low Na+, high K+, low Cl, low glucose, adrenal insufficiency, high ACTH, hyperpigmentation of genitals and areola and postnatal virilization
Late-Onset 21-Hydroxylase Deficiency
Allelic variant of classic 21-hydroxylase deficiency- mild enzymatic defect
Girls present with amenorrhea
Boys present with precocious puberty with early adrenarche, dehydration
Simple Virilizing 21-Hydroxylase Deficiency
Virilization in girls but not boys
11-Hydroxylase Deficiency
Sexual ambiguity in females
May have insidious onset; may present with hirsutism, occasionally hypertension
17-Hydroxylase Deficiency
Sexual ambiguity in males, hypertension
Investigations
- Low Na+, high K+, low cortisol, high ACTH if both glucocorticoid and mineralocorticoid deficiency
- increased serum 17-OH-progesterone (substrate for 21-hydroxylase)
- increased testosterone, DHEAS
Treatment
- glucocorticoid replacement to lower ACTH
- in salt-wasting type mineralocorticoids given as well
- spironolactone is used in late-onset 21-hydroxylase deficiency as anti-androgen
- surgery to correct ambiguous genitalia
At what gestational ages would you order a triple test or a quad test?
What is involved in each test at and what gestational ages?
What can each of these tests screen for?
No ultrasound in quad test, just four serum biomarkers.
The quad test is free in Victoria, but less sensitive with a 5% false positive rate.
At what gestational ages can you order CVS versus amniocentesis?
You are called to neonatal code blue. A baby has just been born with no respirations or muscle tone. Describe your actions.
- Call for senior help/call code
- Don PPE/gloves
- History
- Gestational age
- mec stained liquour
- mothers GBS status
- maternal fever
- complications in labour?
- Stimulate the baby for 30 secs, check HR and RR with stethoscope
- If inadequate resps commence IPPV on room air whilst attaching Spo2 and telemetry
- PIP (30 cmH2O for a term infant or 20 - 25 cmH2O for a preterm infant), PEEP 5cm
- If no response after 30 seconds and HR
- At this stage consider intubation, adrenaline and 10ml/kg normal saline through umblical artery
- Titrate oxygen to time of life
What are the most common cancers of childhood and at what ages do they typically occur?
What do you know about Wilm’s tumours?
- Most common in preschool aged children
- Rapidly growing retroperitoneal tumour
- Often asymptomatic mass
- May rupture, bleed and cause pain (20%)
- Haematuria and HTN occur in some patients. Can cause an aquired vWD.
- Surgery and chemotherapy achieve 90% cure rates
- Metastasize very late
What are the diagnostic criteria for Kawasaki disease?
A 15-year-old boy presents to a physiotherapist complaining of tenderness near the base of his thumb. He recalls falling during cross country running about 1 week ago.
A - Fractured radius
Metaphyseal fractures have a peak incidence during the adolescent growth spurt (girls aged 11-12 years, boys 12-13 years) due to weakening through the metaphysis with rapid growth.
What is a buckle’s fracture?
Failure of a child’s bone in compression results in a “buckle” injury, also known as a “torus” injury. These most commonly occur in the distal metaphysis, where porosity is greatest.
Buzz word diagnosis…?
Ultrasound shows small baby + choroid plexus cysts + ‘rocker bottom feet’ = what syndrome?
[hint: usually hasn’t had screening test]
Edward’s Syndrome (Trisomy 18)
The majority of fetuses with the syndrome die before birth.
Ultrasound shows foetus has a cystic hygroma = what syndrome?
Turner’s Syndrome
45XO
Cystic hygromas are benign and can happen to anyone, but most common in context of Turner’s syndrome
Buzzword diagnosis:
Ultrasound shows frontal bossing with head and AC on the 50th centile but all four limbs below the 3rd centile
Achondroplasia
A common cause of dwarfism. It occurs as a sporadic mutation in approximately 80% of cases (associated with advanced paternal age) or it may be inherited as an autosomal dominant genetic disorder.
What is Alagille syndrome and what is it associated with?
Rare genetic condition that causes the bile ducts to be narrow, malformed, and reduced in number (bile duct paucity). This causes jaundice, hepatosplenomegaly.
Also associated with Tetralogy of Fallot, skeletan and eye deformities and a characteristic facial appearance
What is Beckwith Wiedemann Syndrome and what is it associated with?
An overgrowth disorder usually present at birth, characterized by an increased risk of childhood cancer and certain congenital features.
Common features used to define BWS are:
- macroglossia (large tongue),
- macrosomia (above average birth weight and length),
- midline abdominal wall defects (omphalocele/exomphalos, - umbilical hernia, diastasis recti),
- ear creases or ear pits, and
- neonatal hypoglycemia (low blood sugar after birth).
Associated with increased risk of cancer, specifically Wilms’ tumor (nephroblastoma), pancreatoblastoma and hepatoblastoma
What is ataxia telangectasia and what is it associated with?
A rare, neurodegenerative, inherited disease causing severe disability.
A-T affects many parts of the body:
- It impairs certain areas of the brain including the cerebellum, causing difficulty with movement and coordination.
- It weakens the immune system, causing a predisposition to infection.
- It prevents repair of broken DNA, increasing the risk of cancer.
It is associated with leukaemias and lymphomas
What is Peutz-Jeghers syndrome and what is it associated with?
Peutz Jeghers syndrome, also known as hereditary intestinal polyposis syndrome, is an autosomal dominant genetic disease characterized by the development of:
- benign hamartomatous polyps in the gastrointestinal tract and
- hyperpigmented macules on the lips and oral mucosa
Associated with cancer!
While the hamartomatous polyps themselves only have a small malignant potential, patients with the syndrome have an increased risk of developing carcinomas of the pancreas, liver, lungs, breast, ovaries, uterus, testicles and other organs.
What is the classic clinical picture of Roseola?
What are the complications?
Tends to occur in younger (6-36 months) children with high fevers preceding a sudden rash that begins on the trunk.
The rash can last from a few hours to 3 days
Essentially no worrying complications, conservative management. Can cause febrile convulsions (like any febrile illness) or otitis media.
What are the symptoms of Rubella?
Rash / exanthem – not raised (c.f. measles), often starts on the face in children then spreads down the neck, trunk and extremities
Enanthem – Forchheimer’s spots
Lymphadenopathy is common
Constitutional symptoms: conjunctivitis, arthralgia, malaise, fever, coyza
What is this?
Epidermolysis bullosa (EB) is a group of inherited connective tissue diseases that cause blisters in the skin and mucosal membranes. It is a result of a defect in anchoring between the epidermis and dermis, resulting in friction and skin fragility. Its severity ranges from mild to lethal.
What is this?
Aplasia cutis (sometimes called ‘aplasia cutis congenita’) is a condition where a newborn child is missing skin from certain areas.
What is this?
Acrodermatitis enteropathica is a rare genetic disorder characterised by diarrhoea, an inflammatory rash around the mouth and/or anus, and hair loss.
Acrodermatitis enteropathica is due to malabsorption of zinc through the intestinal cells.
It is autosomal recessive
What is this?
Linear epidermal nevus/Lines of Blaschko
Epidermal naevi are due to an overgrowth of the epidermis. Lesions are present at birth (50%) or develop during childhood (mostly in the first year of life). The abnormality arises from a defect in the ectoderm. This is the outer layer of the embryo that gives rise to epidermis and neural tissue.
What is this?
Incontinentia pigmenti –> an dominant X-linked disease
ASSOIATED WITH TEETH, EYE AND CNS PROBLEMS
What is this?
Cutis marmorata telangiectatica congenita (CMTC) is a rare, deep purple, marble- or net-like birthmark. It is mostly cosmetic, and while it is present at birth, it fades considerably over a child’s first year.
What is this?
Ash lead macules –> associated with tuberous sclerosis.
Note the hypopigmented macules, in contrast to vitiligo where there is NO pigmentation
What is this?
Congenital melanocytic naevus
proliferations of benign melanocytes (pigment cells) that are present at birth or develop shortly after birth.
The risk of melanoma is mainly related to the size of the congenital melanocytic naevus. Small and medium sized congenital melanocytic naevi have a very small risk, well under 1%. Melanoma is more likely to develop in giant congenital naevi (lifetime estimates are 5-10%), particularly in lesions that lie across the spine or where there are multiple satellite lesions.
What is this?
What is the management?
Umbilical granuloma
Common condition resulting from low-grade infection of umbilical stump. Presents soon after cord separation as red, friable granulation tissue in region of umbilicus.
The key to treatment is early application of silver nitrate three times daily applied directly onto granulation tissue. Protect surrounding skin with Vaseline.
What is this? What is the management?
A sebaceous naevus is an uncommon type of birthmark. Present at birth, it is most often found on the scalp, but sebaceous naevi may also arise on the face, neck or forehead. It consists of overgrown epidermis (upper layers of the skin), sebaceous glands, hair follicles, apocrine glands and connective tissue. It is a type of epidermal naevus and is classified as a benign hair follicle tumour. A sebaceous naevus is also called an organoid naevus because it may include components of the entire skin.
Monitor and refer to derm. Probably no Tx required.
This is a 5 day old baby. What is the diagnosis and suggested management?
Congenital dermoid cyst
Common and easily resectable
What is this?
What is the prognosis and management?
Haemangioma –> occurs in 10% of babies, come up in first few weeks of life.
It grows grows rapidly in the first 6 months of life and then slows down. It looks like a strawberry, or if they arise deeper in the skin they can look like a blueish lump.
The vast majority regress completely by age 3, but about 10% may take until age 9-10 to regress.
They can ulcerate and become secondarily infected or bleed.
Because infantile haemangiomas are likely to improve or regress completely with time, there is no need for specific treatment in most cases. Treatment should be considered in the following circumstances.
- Very large and unsightly lesions
- Ulcerating haemangiomas (up to 5-25% of lesions)
- Lesions that impair vision, hearing, breathing or feeding
- If they fail to resolve by school age
What is this? What is it associated with?
Port Wine stain over the ophthalmic and maxillary branches of trigeminal nerve
Associated with Sturge-Weber syndrome –> a rare disorder that is present at birth. A child with this condition will have a port-wine stain birthmark (usually on the face) and may have nervous system problems.
Worry about epilepsy, paralysis and ID
Most cases of Sturge-Weber are not life-threatening. The patient’s quality of life depends on how well the symptoms (such as seizures) can be prevented or treated.
Patients will need to visit an ophthalmologist at least once a year to treat glaucoma. They also will need to see a neurologist to treat seizures and other nervous system symptoms.
What is this USS showing?
The keyhole sign is an ultrasonograhic sign seen in boys with posterior urethral valves. It refers to the appearance of posterior urethra which is dilated, and associated thick walled distended bladder which on ultrasound may resemble a key hole.
What investigations would you order for a child with a UTI?
For infants and children aged 6 months and older with first-time UTI that responds to treatment, routine ultrasound is not recommended unless the infant or child has atypical UTI
- Children <6 months should have a renal ultrasound within 6 weeks of diagnosis. It should be performed during the illness if the UTI is atypical or not responding to antibiotics within 48 hours.
- Older children do not require and ultrasound post first UTI, but should have a renal ultrasound for recurrent UTI.
If indicated, a DMSA scan 4–6 months following the acute infection should be used to detect renal parenchymal defects. This is a nuclear med scan that looks for a renal scar that may have been caused by the UTI.
Hydrocephalus
What are the two types/causes in paeds?
What is the key sign in a newborn?
What clinical sign would suggest that ICP is increasing?
What is the mainstay of treatment?
Types/causes
Congenital hydrocephalus – is present from birth and is associated with other birth defects such as spina bifida and Dandy-Walker syndrome.
Acquired hydrocephalus – can be triggered by tumours, infection or bleeding within the brain that blocks the movement or absorption of CSF.
Key signs
of hydrocephalus in a newborn –> increasing head circumference
Sundowning (downward deviation of the eyes) occurs later on in infancy, as fontanelles close its easier for ICP to increase causing neuro Sx.
Treatment
Mainstay of treatment is therapeutic LP and/or VP shunt
What are the three forms of neurofibromatosis?
How are they inherited?
What is the classical presentation of each?
NF1 – most common neurocutaneous syndrome
Autosomal dominant – chromosome 17, loss of functional NF1 gene, which is a tumour suppressor gene
- Lots of cutaneous neurofibromas
- cafe au lait spots (>6)
- Axillary freckling
- Lisch nodule in iris
NF2
Autosomal dominant – chromosome 22
Bilateral acoustic neuromas (think: NF2 for 2 ears!)
Schwannomatosis
Rare (1 in 40,000)
Similar to NF1/2 but get multiple schwannomas rather than neurofibromas
Tuberous Sclerosis
What is it?
How is it diagnosed?
What are the buzz words for clinical presentation?
What are the complications?
What is the management?
What is it?
- Autosomal dominant condition, 66% of cases due to de novo mutations
- Occurs in 1 in 5,000 - 10,000 births
- Disorder is primarily caused by development of benign hamartomas affecting brain, skin, heart, kidneys, eyes, lungs and heart
How is it diagnosed?
- Diagnosis is made clinically according to criteria (SLE/DSM style)
Buzz words/presentation
- Ash leaf spots (hypopigmented)
- Periungal fibromas
- Shagreen patches
- Facial angiofibromas
- Forehead fibrous plaques
Complications
- Epilepsy
- Infantile spasms are the most common presenting seizure
- Intellectual disability
- Autism
- Risk of invasive malignancy
Management
Symptomatic tx of seizures and ID
MRI every 1-3 years for monitoring for new brain lesions
Surgical treatment of brain lesions only undertaken if they are causing intractable epilepsy, hydrocephalus, haemorrhage, focal neurologic deficits etc.
Friedreich ataxia
What is it and how is it inherited?
What is the effect of Friedreich’s ataxia on cognition?
What are the symptoms and prognosis?
What is it?
Friedreich’s ataxia is an autosomal recessive inherited disease that causes progressive damage to the nervous system. It manifests in initial symptoms of poor coordination such as gait disturbance; it can also lead to scoliosis, heart disease and diabetes, but does not affect cognitive function.
The disease progresses until a wheelchair is required for mobility. Its incidence in the general population is roughly 1 in 50,000.
Symptoms
- Worsening ataxia
- Distal leg wasting
- Absent lower limb reflexes (preserved extensor plantar response)
- Pes cavus (high arch foot)
- Dysarthria
- Impairment of proprioception, vibration sense
- Often optic atrophy
- Associated with evolving kyphoscoliosis and cardiomyopathy that can cause cardiorespiratory compromise and death at 40-50 years.
- No effect on cognition
Tay-Sachs disease
What is it?
What is the effect on an infant/child?
What are the buzz words?
What is it?
Tay-Sachs disease (TSD) is an inherited (genetic) condition common in some Ashkenazi Jews and French-Canadians. However, it can affect people of any nationality. A mutated gene stops the body from producing an enzyme needed for proper brain functioning. This leads to paralysis and death, usually before the age of five.
Symptoms/effect
Symptoms first appear at around six months of age in a previously healthy baby. Over a short period of time, the baby stops moving and smiling, becomes paralysed and eventually dies. Most children with TSD die before their fifth birthday. There is no cure.
Buzz words
Cherry red spot
Hypotonia
Developmental regression in infancy
Death 2-5 years
Gaucher disease
What is it?
What are the key features?
An autosomal recessive disease in which glucocerebroside accumulates in cells and certain organs.
The disorder is characterized by:
- splenomegaly
- bone marrow suppression
- neurological degeneration
- seizures
Most common in Ashkenazi Jews
Niemann-Pick disease
What is it?
How does it typically first present and what are the clinical features?
What is the prognosis?
What is it?
Niemann-Pick Disease is one of a group of lysosomal storage diseases that affect metabolism and that are caused by genetic mutations.
Presentation/features
3-4 months feeding difficulties
FTT
Hepatosplenomegaly
Developmental delay
Hypotonia
Deterioration of hearing and vision
Cherry red spot in 50%,
Prognosis
Death by 4 years.
Spinal muscular atrophy
What is it?
What are the key clinical features/buzz words?
What is the prognosis
What is it?
Autosomal recessive condition –> degeneration of the anterior horn cells
Second most common neuromuscular disease after Duchenne’s.
There are four types, type 1 being the worst and most common.
Key clinical features
Severe onset in the first months of life
Severe hypotonia – “frog-like posture”
Characteristic “bright eyes” – reflects normal intellect
Areflexia
Weakness worse in legs than arms
Prognosis
Usually fatal by 2 yo from respiratory failure
Charcot-Marie Tooth disease
What is it?
What are the clinical features/buzz words?
What is it?
A genetically and clinically heterogeneous group of inherited disorders of the peripheral nervous system characterised by progressive loss of muscle tissue and touch sensation across various parts of the body.
What are the clinical features?
Symptoms of CMT usually begin in early childhood or early adulthood, but can begin earlier. Usually, the initial symptom is foot drop early in the course of the disease. This can also cause hammer toe, where the toes are always curled. Wasting of muscle tissue of the lower parts of the legs may give rise to a “stork leg” or “inverted champagne bottle” appearance.
Loss of touch sensation in the feet, ankles and legs, as well as in the hands, wrists and arms occur with various types of the disease.
High arched feet (pes cavus) or flat arched feet (pes planus) are classically associated with the disorder.
Eosinophillic oesophagitis
What is it? What conditions is it associated with?
What is the classic presentation?
What is the management?
Can you visualise what it looks like on endoscopy?
What is it ?
Eosinophilic oesophagitis is a recently recognised panoesophagitis in children, with diagnosis based on histological evidence of at least 15 eosinophils per high power field on oesophageal biopsies obtained at gastroscopy.
It is closely associated with food allergy (including IgE and non-IgE mediated) and other atopic conditions such as eczema, allergic rhinitis, asthma or family history of atopy.
Classic presentation
- Eosinophilic oesophagitis can present at any age with nonspecific gastrointestinal symptoms, including regurgitation, vomiting, food refusal or dysphagia.
- A classic infancy EO presentation includes irritability, feeding refusal and failure to thrive, which often overlaps with GORD presentation.
- On the other hand, food bolus impaction is the most common EO presentation in school aged children and adolescents. This presents as dysphagia, or a sensation of choking/food getting stuck (often with meat)
Management
Management of suspected EO requires referral to a gastroentologist for diagnosis by endoscopy. Treatment usually consists of a trial of food allergen elimination (ie. empirically or based on allergy testing – with referral to an allergist) or swallowed inhaled corticosteroids.
What is this?
What would you say to parents of a child with this condition to explain what it is?
What is the management?
Plagiocephaly
is the most common craniofacial problem today.
Explain to parents
It is common for a newborn baby to have an unusually shaped head. This can be caused by the position of the baby in the uterus during pregnancy, or can happen during birth. Your baby’s head should go back to a normal shape within about six weeks after birth. Sometimes a baby’s head does not return to a normal shape and the baby may have developed a flattened spot at the back or side of the head. This condition is known as deformational plagiocephaly.
Plagiocephaly does not affect the development of a baby’s brain, but if not treated it may change their physical appearance by causing uneven growth of their face and head.
Management
Many children with deformational plagiocephaly do not need any treatment at all, because the condition can improve naturally as the child grows and begins to sit up. For children where treatment is necessary, it is important to see a specialist (plastic surgeon) between four and eight months of age. This is because the greatest amount of correction will occur before 12 months of age.
Where needed, treatment may involve helmets or correctional positioning.
Describe the Ann Arbour staging criteria…
Describe the structure of the heart (and the pattern of blood flow) in tricuspid atresia…
Tricuspid atresia –> Absence of tricuspid valve AND of functioning RV.
Systemic venous return is therefore shunted from the RA through the FO/ASD into the LA where it mixes with pulmonary venous return, resulting in semi-oxygenated blood output to the Aorta.
If a VSD is present there will be a small hypoplastic RV and blood will enter the pulmonary arteries through this. (This is pictured)
If there is no VSD, the RV will be completely hypoplastic, pulmonary atresia will be present, and the pulmonary arterial circulation will be completely dependant on shunting of blood from the aorta to the pulmonary circulation via the DA.
The parents of an 18month year old child bring her to you to review her feet, which they think look abnormal. What do you tell them is the problem? When should they worry?
This is called flat feet (pes planus)
It is very common from age 1 to 2
As long as the arch comes back when they’re when on tiptoes it’s totally fine
Orthotics do little, no management required
When to worry?
Most children develop an arch in standing by around age six. However, about one in five children never develop an arch and that CAN indicate Achilles tendon contracture or inflammatory arthtropathy –> should be referred.
A 2 year old’s parents bring him for review because they think he has “bow legs” (pictured). What do you say?
This is called Bow legs (genu varum)
Self resolves by age 3
Just make 100% sure it’s not rickets
The parents of a 4 year old bring their child to you concerned about her “knock knees”. What do you say? What management is required.
Knock knees are common in children between the ages of three and five.
In most children the legs gradually straighten with growth, and are usually in a normal position by the time they are eight years old.
Because bow legs and knock knees usually correct naturally, special shoes, braces or exercises are not recommended.
If you are concerned about the shape of your child’s legs, it may be helpful to take a photograph of your child every six months to show your doctor. Photograph your child standing with their knees facing forward.
A 15 year old boy who is training to be a professional football player presents with persistent knee pain localised pain over femoral condyles. What is the diagnosis and management?
Osteochondritis dissecans
(separation of bone and cartilage from medial femoral condyle following avascular necrosis)
If complete separation of articular fragment loose body formation will give symptoms of knee locking or giving way
Spontaneous healing is usual unless there is an unstable fragment, and treatment revolves around rest and immobilisation for up to a year
A 13 year old girl has pain when standing up from sitting, as well as when walking up stairs. She has no other symptoms. What is the diagnosis and management?
Chondromalacia patellae = softening of patella articular cartilage
often affects adolescent females
Rx with rest and PT for quad strengthening
hockey-stick palmar crease = ???
Fetal alcohol syndrome
What are the main features of Williams Syndrome?
- “Elfin” facies (a.k.a. “pixie-like”)
- Cognitive profile consisting of impaired cognition and development accompanied by a friendly, social personality
- Love for and skill at music
- hyperacusis – extreme sensitivity to sound, which may include being startled by ordinary noise levels
- Supravalvular aortic and/or pulmonary stenosis
- Hypertension
- Short stature
- Endocrine abnormalities including hypercalcemia, diabetes mellitus, and subclinical hypothyroidism
- Genitourinary abnormalities
- MANY MANY MANY others
Diagnosis?
Prognosis?
Edwards syndrome –> Trisomy 18
<10% live beyond 1 year
What is the genetic cause of Patau syndrome?
What are the main/buzz word features?
What is the prognosis?
Trisomy 13
Structural defects of brain and scalp defects/Cleft lip and palate
8-10% survive beyond 1 year with severe learning disabilities, most likely due to mosaicism or partial trisomy 13
What’s the diagnosis?
What are the clinical features?
Fragile X (X linked means more common in men)
Facial dysmorphism
Macrocephaly/High forehead/Long face
Big ears
Large testes (post-pubertal)
Cognitive
Intellectual disability
Autistim
What’s the diagnosis?
What are the clinical features of this condition?
What is the prognosis?
Pierre-Robin syndrome
Micrognathia/retrognathia –> resp problems at birth, feeding problems, FTT, OSA, cleft palate
Prognosis is okay once the anatomical problems are corrected
What antibiotics would you use for pneumonia in a child?
Mild:
Amoxycillin 15 mg/kg (500 mg) po 8H or
Roxithromycin 4 mg/kg (150 mg) po 12H If considering Mycoplasma
Moderate:
Benzylpenicillin 60 mg/kg (2 g) iv 6H and
Roxithromycin 4 mg/kg (150 mg) po 12H If considering Mycoplasma
Severe or pneumatocoele:
Flucloxacillin 50 mg/kg (2 g) iv 4H and
Gent 7.5 (6 if >10y) mg/kg (360 mg) iv daily and
Azithromycin 15 mg/kg (500 mg) iv stat then 5mg/kg iv daily If considering Mycoplasma
What investigations would you order for a suspected case of DKA?
Bedside Tests
BGL finger prick
Ketone finger prick
Urine dipstick
Catheter to monitor UO
Bloods & Urine
Serum glucose
Serum ketones
VBG / ABG
UEC
Septic screen - FBE, blood cultures, urine MC+S, CXR
Imaging
Special Tests – autoimmune investigations (new cases)
islet cell antibodies, insulin antibodies, GAD (confirm T1DM); IgA level; antiendomyseal, anti-gliadin and tissue transglutaminase antibodies; TFTs
Describe the management of DKA…
Do the following whilst monitoring BGL (finger prick and serum), serum ketones, UEC, VBG regularly
DRSABC Resuscitation
Commence IV fluids (slowly to prevent cerebral oedema)
Normal saline to begin, add in dextrose when BGL drops below 15
Commence a strict fluid balance chart
Give insulin infusion
to correct acidosis (insulin stops ketogenesis) one to two hours after starting intravenous fluids, but not before one hour
Think of correcting hyperglycaemia as a secondary benefit. You control the BGL with the addition of dextrose to the fluids, not the insulin.
50 units ‘Actrapid’ in 49.5ml normal saline (i.e. 1 unit per ml)
0.1 units/kg/hr in newly diagnosed children and in those already on insulin therapy with a blood glucose of greater than 15mmol/
Give potassium – add it to NaCl (+/- dextrose)
Only once K
Only if not anuric!
Ensure the patient is nil by mouth
Once stable, transition to SC insulin
What is Sandifer syndrome?
What is the management?
Complication of GORD in children causing neurological, seizure like episodes
The classical symptoms of the syndrome are spasmodic torticollis and dystonia. Nodding and rotation of the head, neck extension, gurgling, writhing movements of the limbs, and severe hypotonia have also been noted.
Diagnosis is made on the basis of the association of gastro-oesophageal reflux with the characteristic movement disorder. Neurological examination is usually normal.
Management involves treating the GORD
What are the clinical features of congenital hypothyroidism?
Infants born with congenital hypothyroidism may show no effects, or may display mild effects that often go unrecognized as a problem: excessive sleeping, reduced interest in nursing, poor muscle tone, low or hoarse cry, infrequent bowel movements, exaggerated jaundice, and low body temperature.
If fetal deficiency was severe because of complete absence (athyreosis) of the gland, physical features may include a larger anterior fontanel, persistence of a posterior fontanel, an umbilical hernia, and a large tongue (macroglossia).
If untreated for several months after birth, severe congenital hypothyroidism can lead togrowth failure and permanent intellectual disability.
What history questions would you ask a child with FTT to rule in/out differentials?
