JLS Paeds Flashcards
What is the medical term for croup?
Laryngotracheobronchitis
What is the typical presentation and clinical course of croup?
1 - 2 days of coryza. On the 2nd or 3rd night / early morning, awake with a barking cough. Stridor might develop after that. Barking cough / stridor only lasts 2-3 days. Viral symptoms last 7 days
What is the typical microorganism which causes croup?
Parainfluenza virus
What is the management of croup?
- Basics - minimal handling. Supplemental oxygen or respiratory support if required in severe cases. 2. Place and person - admit to hospital if worried about increased WOB or hypoxia. 3. Investigations and definitive diagnosis - clinical diagnosis 4. Management - oral prednisolone (1mg/kg), oral dexamethasone (0.15 - 0.6 mg/kg), IV dexamethasone (0.2mg/kg), nebulised adrenaline (1:1000), ETT 5. Long term
What are the two main types of croup?
Acute viral croup or recurrent spasmodic croup
What are the symptoms of epiglottis?
The four Ds Dysphagia Dyphonia Drooling Dyspnoea
What is the most common microorganism which causes epiglottis?
H. influenzae B
What is the most common microorganism which causes bacterial tracheitis?
Staphylococcus aureus (now more common than epilglottitis due to Hib vaccine)
what is the dosage of ipatropium bromide given in moderate / severe acute exacerbations of asthma?
6 yo give 8 puffs with salbutamol burst therapy (every 20 minutes for one hour)
What are the signs of respiratory distress in a child?
(Hint there are 7)
7 SIGNS OF INCREASED WOB IN KIDS
(general inspection -> obs -> hands -> face -> neck -> chest)
Cyanosis
Tachypnoea
Head bobbing (younger kids)
Grunting
Nasal flare
Tracheal tug
Intercostal and subcostal recession
What is the pathophysiology of bronciolitis?
Inflammation of the bronchioles
Often caused by infections with RSV
What is the usual causative microorganism of brinchiolitis?
RSV
In what age group is bronchiolitis most common?
What does RSV tend to cause?
Bronchiolitis
What does parainfluenza virus usually cause?
croup
What is the typical presentation of Bronchiolitis?
Child
URTI + asthma like symptoms [cough, dyspnoea, wheeze]
(remember, can’t diagnose asthma
What would you consider for “Place and Person” in a child with bronchiolitis, when deciding whether or not to admit them?
- Oxygen requirement - if requiring oxygen to maintain SpO2 > 93% admit
- Apnoeic episodes - marker of severity
- Behaviour - poor feeding, lethargy and irritability are signs of severity
- Work of breathing
What is the management of bronchiolitis?
Basics
- DRABC
- Vital Signs
Place and Person
- Assess severity
- If increased WOB, requiring O2 to maintain SpO2 > 93%, apnoeas or lethargy/poor feeding/irritabilty –> ADMIT [if RURAL - if parents are anxious / nervous / “irresponsible” or if live far away]
Ix and confirm diagnosis
- Usually aclinical diagnosis
- If diagnostic uncertainty, can do CXR
Definitive Management
- Supportive management
- Minimal handling and frequent feeds’
- Oxygen via NP / HFNP
- NGT / IV fluids if poor feeding
- Can be discharged once maintaining adequate oxygenation and adequate feeding
- Can triabl salbutamol if 2 years old to see if salbutamol responsive
Follow Up
- Follow up with GP
- Educate RE signs to return (apnoeic, lethargic, poor feeding, wheeze, increased WOB)
Braking cough = ?
Croup
Laryngotracheobronchitis
What are the causative microorganisms of croup?
95% is Parainfluenza
Can be bacterial (H. influenzae, S. aureus) = bacterial tracheitis
BONUS WOMENS QUESTION
What are the causes of menorrhagia?
Bleeding disorder
Iatrogenic (IUDs and drugs)
Thyroid dysfunction (especially hypo)
Cancer (Endometrial, cervical)
Hyperplasia of the endometrium
Fibroids (leiomyomata) and polyps
Adenomyosis and endometriosis
Chlamydia, gonorrhea and STIs
Ectopics, miscarriage, pregnancy
At what age do you get croup?
6 months - 6 years
What are the typical symptoms/ signs of croup?
What is added to make this bacterial tracheitis?
URTI followed by barking cough, hoarse voice, wheeze [even though LRTI], increased WOB
If there is also high fever + toxic looking child –> consider BACTERIAL TRACHEITIS [OR EPIGLOTTITIS FOR THAT MATTER?!]
What is the management of croup?
Basics
- DRABC
- Vitals
Place and Person
- Do they need to be admitted?
- Stridor at rest
- Requiring O2 - VERY LATE SIGN
- Increased lethargy/irritability
- Poor feeding
- Live far away [rural]
- Parents don’t seem “sensible” [rural]
Ix and Confirm Diagnosis
- Want to avoid over-investigating because can worsen
- CXR if uncertainty: steeple sign if severe
Definitive management
- Mild: D/C home and supportive care. Freqeunt small feeds and minimal handling
- Moderate:
- Oral corticosteroids:
- 1mg/kg prednisolone
- 0.15mg/kg dexamethasone
- Oral corticosteroids:
- Severe:
- Nebulised adrenaline
- plus oral steroids as above
Follow Up
- DC once no stridor at rest
- Follow up with GP a few days later
- Educate RE signs to come back in
What are the markers of severity for croup?
Stridor at rest
Poor feeding
Lethargy / irritability
Increased WOB
Reduced SpO2 is a very late sign
What is the aetiology of epiglottitis?
Haemophillus infleunzae
Or, if immunised, more likelt to be
Beta haemolytic strep
Moraxella catarrhalis
Strep pneumoniae
What are the causes of epiglottitis in an immunised child?
Group A Strep
Moraxella Catarrhalis
Streptococcus Pneumoniae
How do you differentiate between croup and epiglottitis?
Croup
- sickness comes on over a few days
- Preceeding URTI symptoms
- Not usually with high fever
- Miserable
- Loud, barking, brassy cough
- Loud, harsh stridor
- Hoarse voice
- Able to drink, not drooling
Epiglottitis
- Comes on suddenly
- No preceeding URTI symptoms
- High fever
- Flat / flopppy
- Soft, muffled cough
- Soft stridor
- Quiet voice, reluctant to speak / dysarthria
- Dysphagia and drooling
What is the management of epiglottits!
Straight to ED
Secure the airway (be prepared to perform a crycothyroidectomy)
Take bloods once intubated
Empiral antibiotics (Ceftriaxone)
Treat contacts with Rifampicin prophylactically
What is the aetiology of cystic fibrosis?
autosomal recessive mutation on chromosome 7
inteferes with CFTR gene which cuases altered ion transportation across epithelial cells
What are the clinical features of CF?
Respiratory
- Thickened secretions
- Recurrent infections
- Bronchiectasis
- Recurrent pneumothroacies
- ABPA
- Nasal polyps
- Chronic sinusitis
Pancreas
- Exocrine insufficiency (which then blocks the endocrine ducts)
- Malabsorption
- Steatorrhea
- Failure to thrive
- Recurrent pancreatitis
- T1DM
Hepatobiliary System
- Prolonged neonatal jaundice
- Hepatic cirrhosis
- Portal HT
- Fat soluble vitamin deficiency (vitamin ADEK)
- Recurrent cholecystitis
GIT
- Meconium ileus
- DIOS
Reproductive system
- Absence of vas deferens
- Delayed puberty due to malnutrition
- Infertility
What is involved in testing for CF using the Gutehrie Test?
- First Test for IRT (immunorecative trypsinogen level)
- If this is high - then test for CFTR
What is the screening test for CF?
What is the diagnostic test?
Screening test = Gutherie Heel Prick (IRT & CFTR)
Diagnostic Test = Sweat Test
If you had a child with symptoms of CF, what FIRST investigation would you order?
Sweat Test
(Sweat chloride levels >60mmol/L = diagnostic of CF)
NOT the heel prick test, this is a screening test
What is the overall management of CF?
Basics
- Explain there is NO CURE - only manage potential complications
Place and Person
- Referral to paediatrician, respiratory physician, allied health including physiotherapists and dieticians
Ix and CD
- Sweat Test if not already done
Definitive Management:
Think of each system
- Respiratory
- physiotherapy
- aerolysed mucolytics
- ABx if infection, also given resuce antibiotics
- Lung transplant (last line)
- GIT & Pancreas
- High calorie diet
- Pancreatic enzyme replacement (Creon)
- Fat solumble vitamin replacement (A,D,E,K)
- Salt replacement occasionally
- Insulin later in life
Prevntative / Ongoing
- Flu vaccine
- Pneumococcal vaccine
- NO SMOKING
- Avoid sick people
- Regular follow up
- Yearly mucous cultures taken (and at every exacerbation). Eventually get infected with pseudomonas.
- DEXA scan at puberty
*
How do you classify asthma in cenhildr?
Infreuent intermittent
- Attacks less often than every 6 weekly
- No interval symptoms
Frequent intermittent
- Attacks more often than every 6 weekly
- No interval symptoms
Persistent
- Attacks more often than every 6 weekly
- Mild: Interval symptoms fewer than 1 x per week
- Moderate: interval symptoms 1 x per week
- Severe: interval symptoms >1 x per week
How do you classify infrequent intermittent asthma?
Attacks less often than every 6 weeks
No interval symptoms
How do you classify frequent intermittent asthma?
Attacks more often than every 6 weeks
No interval symptoms
How do you classify mild persistent asthma?
attacks more frequent than every 6 weeks
interval symptoms less than once per week
How do you classify severe persistent asthma?
Attacks more frequently than every 6 weeks
Interval symptoms more than once per week
How do you classify moderate persistent asthma?
Attacks more frequently than every six weeks
Interval symptoms 1 x per week
What are interval symptoms?
What else can you ask to grade the severity of asthma?
Interval Symptoms
Night cough / wheeze
Morning cough / wheeze
Exercise tolerance
Days of school missed?
Youcan also ask
- When was the last time / has he ever / how often does he require steroids for his asthma?
- Has he been to ED / wards / ICU with his asthma?
What is the defnitive management of infrequent intermittent asthma?
SABA prn
What is the defitive management of frequent intermittent asthma?
SABA prn
+
low dose/higher dose ICS
AND/OR
LTRA
AND/OR
cromone
What is the definitive management of persistent asthma?
SABA prn
+
low dose/higher dose ICS
AND/OR
LTRA
AND/OR
cromone
+
LABA
oral CS
Name two generic types of SABA and some brand name?
Salbutamol (Vontolin)
Terbutaline (Bricanyl)
Name two different types of ICS and their brand names?
Fluticasone (Flixotide)
Budenoside (Pulicort)
Name two different types of combined ICS / LABA?
Fluticasone + Salmetorol = Seretide
Budenoside + efometerol = Symbicort
Name two types of LABA and their brand names?
Efometerol = Foradile
Salmeterol = Serevent
(usually see this combined with an ICS)
Name one generic type of LTRA and it’s brand name
Monteleukast (Singulair)
Name one type of cromone and their brand name
Cromoglycate (intal)
How do you diagnose asthma in a child?
Trial of salbutamol
(not with lung function tests or PEF until over 7-8)
In what age group would you use LABAs?
No evidence for children
What is the emergency management of asthma, to instruct parents of a child >6 years old, to do at home?
> 6 y.o. = maximum 12 puffs of ventolin
‘4,4,4’ rule
- 4 puffs (4 breaths per puff)
- wait 4 minutes
- 4 puffs (4 breaths per puff)
- wait 4 minutes
- 4 puffs (4 breaths per puff)
- wait 4 minutes
Then if not better, call an ambulance
/ bring in to hospital.
Can bring straight in to hospital if:
- If you are worried – call an ambulance straight away even before administering ventolin
- If are requiring ventolin more frequently than every 3-4h
- If wheezing lasts >24h and is not getting better
- If you get little or no relief from ventolin
What is the home emergency management of asthma of a child
‘2,2,2 rule’
2 puffs (3-4 breaths)
- wait two minutes
puffs (3-4 breaths)
- wait two minutes
2 puffs (3-4 breaths)
- wait two minutes
if not better call ambulance / bring in to hospital
other reasons to call an ambulance / seek medical attention
- If you are worried – call an ambulance straight away even before administering ventolin
- If are requiring ventolin more frequently than every 3-4h
- If wheezing lasts >24h and is not getting better
- If you get little or no relief from ventolin
What are the causes of cyanotic congenital heart disease?
12345T
- Truncus arteriosus
- Transposition of the Great Arteries
- Tricuspid / Pulmonary Atresia
- Tetralogy of Fallot
- Total anomolous pulmonary venous return
What are the two classes of acyanotic congenital heart disease?
Obstructive and L-R shunt
What are the causes of obstructive heart disease?
- Hypoplastic L heart syndrome
- AS
- Coarctation of the aorta
- Interruption of the aortic arch
As a general rule, which group of congenital heart defects are ALWAYS duct dependent? How is this treated in the early stages?
Obstructive congenital heart defects (hypoplastic L heart syndrome, AS, interruption of the aortic arch and aortic coarctation). They are treated by PGE1 in the short term, to keep the duct open
As a general rule, which group of congenital heart defects are USUALLY duct dependent? Is it harmful to treat with PGE1, while still in the diagnostic process?
R–>L shunts (1T2T3T4T5T) but this time you depend on the duct being open for blood to flow into the PULMONARY circulation
How and when do obstructive congenital heart defects present?
A shocked neonate. Often on D2 of life when PDA closes. Present as a dusky / grey coloured neonate with weak / absent pulses and a low BP, with a metabolic acidosis.
What are the defects of tetralogy of fallot?
- PULMONARY STENOSIS 2. RVH 3. VSD 4. Overriding aortic arch
When does tetralogy of fallot tend to present and how?
6-12 months of life. “Tet spells” or “hypoxic spells” - cyanosis or LOC / going floppy on feeding, crying or exertion
What is the surgical correction of transposition of the great arteries?
balloon atrial septotomy
What is the surgical correction of hypoplastic L heart syndrome?
Norwood operation
Which two congenital heart defects are associated with DiGeorge syndrome? Which chromosomal abnormality is this and what are the other associated features?
TOF and transpos are both associated with microdeletion of the long arm of chromosome 22. The other associated features are ‘CATCH 22’ Cardiac (trasnpos, TOF) Abnormal (long) facies Thymic hypoplasia Cleft palate Hypocalcaemia / hypoparathyroidism
With which CHD is Turner’s syndrome associated?
Aortic coarctation
Compare the timing of onset of transposition of the great arteries and TOF?
Transpos always presents as cyanosis in the newborn period. TOF presents 6-12 months of life as cyanosis.
What is the most common cause of ACQUIRED heart disease in paediatrics?
Kawasaki disease
What are the diagnostic features of Kawasaki disease?
Fever persisting 5 days or more (usually high, >39 degrees)
AND
4 of the following 5 features
Important note: you can also diagnose Kawasakis with only 3 of the 5 features if you get a positive echo.
- bilateral nonpurulent conjunctivitis
* ie. redness without exudate
- red fissured lips, strawberry tongue, erythema of oropharynx (without tonsillitis or evidence of URTI)
- changes of the peripheral extremities
- acute phase: erythema, edema of hands and feet, groin peeling. May manifest as refusal to weight bear.
- subacute phase: peeling from tips of fingers and toes
- polymorphous rash
- usually begins in the nappy area (where there may be desquamation early in the disease) and spreads to involve the trunk, extremities and face.
- Rash may be maculopapular, annular or scarlatiniform.
- cervical lymphadenopathy > 1.5 cm in diameter
What is the treatment of Kawasaki disease
- Intravenous immunoglobulin (2 g/kg over 10 hours; preferably within the first 10 days of the illness.)
- Aspirin 3 - 5 mg/kg once a day for at least 6 to 8 weeks
What should be organised before a patient treated for Kawasaki disease is discharged?
Follow-up echocardiogram in 6-8 weeks
Kawasaki disease is primarily a clincial diagnosis, but what Ix would you perform (and what might you expect to see)?
Bedside tests ECG - check for ischaemia / infarction Urine dipstick - negative Laboratory Tests FBE - neutrophilia, anaemia, thrombocytosis ESR/CRP - markedly raised LFTs - ALT raised Imaging Echocardiogram
What are the clinical features of a Patent ductus arteriosus?
- Patients with a small PDA are usually asymptomatic
-
Murmur
- Continuous murmur audible at the upper left sternal border or left infraclavicular area – called a machinery murmur
- May disappear during diastole and be mistaken for a systolic murmur, especially if the duct is large and there is associated pulmonary hypertension.
- Radiates along the pulmonary arteries, and often well heard over the left side of the back
- With a large duct, the large left-to-right shunt causes left heart dilation
- Can cause symptoms such as failure to thrive, dyspnea and recurrent chest infections.
- Bounding pulses
- Low diastolic BP
- Apex may be displaced and forceful, and an apical mid-diastolic murmur may be heard due to increased flow through the mitral valve
- A thrill may be palpable
What is the management of a patent ductus arteriosus in preterm infants?
IV indomethacin
IV ibuprofen can be used in infants of larger weight
What is the management of PDA in term infants?
Percutaneous catheter closure
What is Eisenmenger syndrome?
Intracardiac communication with severe pulmonary vascular disease which is inoperable
What is the most common congenital heart defect?
Ventricular septal defect
What are the clinic presentation of VSDs?
- Small VSDs with little shunt are often asymptomatic but have a loud murmur
- Loud, harsh, high pitched pansystolic murmur usually heard best at the lower left sternal border
- There may be a thrill
- Large VSDs - pulmonary overcirculation and heart failure
- Increase flow across the mitral valve causing a mid-diastolic murmur
- Parasternal heave
- Difficulty feeding due to tachypnea
- Hepatomegaly
- Splitting of S2 and intensity of P2 – depending on the pulmonary artery pressure
Eisenmenger syndrome
- At rest patients may be asymptomatic, but experience exertional dyspnea, cyanosis, chest pain, syncope and hemoptysis with exercise
What are the four structural defects of Tertalogy of Fallot?
Ventricular septal defect
Pulmonary stenosis
Overriding aorta
Right ventricular hypertrophy
At what age would you expect to see cyanosis in children with tertaology of fallot?
6 to 12 months
How do you treat a hypercynanotic spell or tet spell?
Treatment of hypercyanotic spells
Basics
ABC, oxygen, sedation and pain relief (morphine)
Place and person
Hospital, ICU
Investigate and confirm diagnosis
Text
Non-invasive management
Keep the child calm – stress will exacerbate
Definitive management
IV propranolol
- Works as a peripheral vasoconstrictor and by relieving the subpulmonary muscular obstruction that is the cause of reduced pulmonary blood flow
IV volume administration
Bicarbonate to correct acidosis
Muslce paralysis and artificial venticlation in order to reduce metabolic oxygen demand
At what age does transposition of the great arteries usually become apparent?
- Presentation is usually on day 2 of life when ductal closure leads to a marked reduction in mixing of the desaturated and saturated blood.
Physical signs
- Cyanosis is always present
- Quiet tachypnea
- The second heart sound is often loud and single
- Usually no murmur, but may be a systolic murmur from increased flow or stenosis within the left ventricular outflow tract
- Metabolic acidosis may develop because of tissue hypoxia.
What are the signs of heart failure in a child?
Recurrent chest infections
FTT
Difficulty feeding
Hepatomegaly
Tachycardia
Respiratory distress
Profuse sweating when feeding
What is Eisenmenger’s Syndrome?
Eisenmenger syndrome refers to any untreated congenital cardiac defect with intracardiac communication that leads to pulmonary hypertension, reversal of flow, and cyanosis. The previous left-to-right shunt is converted into a right-to-left shunt secondary to elevated pulmonary artery pressures and associated pulmonary vascular disease.
What are the common and less common presentations of HSP?
Common - purpuric rash over legs and buttocks - migrating arthlagia and swelling - abdominal pain Less common - HSP nephritis (HT, proteinuria, haematuria) - intussuception - malaena and haematemesis - scrotal swelling
Describe the management of HSP
Basics - analgaesia for joint pain (paracetamol not NSAIDs) - analgaesia for abdo pain (steroids have evidence) Place & Person - Referral to outpatient paeditrician for ongoing observation Definitive management - Education & supportive care Prevention - continue to review for 6 months (including BP and urine dipstick) - steroids are NOT indicated for nephritis prophylaxis
What are the DDx for brusing in children?
‘SHIELD’ Sepsis (meningoccoal) HSP / HUS / Haemophilia ITP Events (Trauma or non-accidental injury) Leukaemia DIC (usually in the setting of severe illness)
How do you diagnose ITP?
An isolated thrombocytpoaenia (platelet count of
What is the management of ITP?
Basics - stop any active bleeding Place and Person - refer to paediatric haematology Investigations and confirm diagnosis - FBE and blood film to confirm isolated thrombocytopaenia - BMAT if unsure / need to rule out leuakaemia Conservative Management - avoid contact sports / high-risk activities - monitor menstural bleeding if post-pubertal female - avoid NSAIDs and 5-ASA - ongoing follow up and FBE Definitive Management’ - steroids (low or high dose) - IVIg
What is the most dangerous complication of ITP?
Intra-cranial haemorrhage Although the risk if
What are the causes of Fe deficiency anaemia in a child?
Poor stores
- Maternal iron defficiency
- Prematurity / low birth weight
Reduced intake
- Haven’t switched to solids at 6 months
- Vegeterian (adolescents)
Reduced Absorption
- Coeliac disease
Increased Loss
- Meckel’s diverticulum
- Cows milk in the first 12 months (causes micro GI bleeds)
- Menstural loss (adolescents)
What are the “next step” investigations for anaemia?
microcytic –> ferritin + Hb electrophoresis
normocytic –> reticulocyte count
macrocytic –> vit B12 / folate
What are the causes of anaemia in a child?
Microcytic
- Fe defficicency
- Thalasseaemia
Normocytic
- With increased retics
- Haemolysis
- Blood loss
- With decreased retics
- transient erythroblastaemia of childhood (caused by parvovirus B19)
- leukaemia
Macrocytic
- B12 / folate defficiency - rare
What questions should you ask in history when presented with a child with anaemia?
Microcytic
- Fe defficicency
- “Diet, on solids, bleeding from anywhere, drinking cows milk before 12 months, abdmonial pain and bloating, prematurity, low birth weight”
- Thalasseaemia
- “FHx of thalassaemia”
Normocytic
- With increased retics
- Haemolysis
- Jaundiced at birth?
- Blood group? Child and maternal?
- Blood loss
- Bleeding from anywhere?
- Haemolysis
With decreased retics
- transient erythroblastaemia of childhood (caused by parvovirus B19)
- unwell with viral ilness?
- Slapped cheeks?
- leukaemia
- Brusing?
- Severe unusally persistent recurring infections?
Macrocytic
- B12 / folate defficiency - rare
What initial investigations should you order for a child with suspected anaemia?
FBE
Ferritin
Blood Film
Reticulocyte count
What is the management of iron defficiency anaemia in the paediatric population?
- Treat underlying cause
- Diet
- Foods rich in iron
- Avoid cows milk until after 6 months
- Encourage orange juice and vitamin C
- Avoid coffee and tea
- Supplementation
- Oral (tablet or drops) or infusion
- Oral will make stools turn very dark, and cause constipation or diarrhoea
- Beware of iron overdose! Keep in locked cupbpard
What would the coagulations studies of someone with ITP show?
The coags would be normal. This is a disorder fo platelets.
What are the different types of ITP?
Acute
- ITP
- Occurs in children 2-5 years old
Chronic
- ITP >12 months
- Occurs in children older than 7 and in adults
- Females > males
Recurrent ITP
- Rare
What is the management of ITP
Conservative - watch and wait
Low dose steroids
High dose steroids
IVIg
Splenectomy is a very last line option
What advice would you give to a parent who has a child with ITP?
- Management options
- Conservative - watch and wait
- 75% of children will recover within 4-6%
- No side effects
- Steroids
- Side effects of steroids
- Quicker recovery
- IVIg
- Quicker recovery
- Would have to stay in hospital
- Conservative - watch and wait
- Risk of IVH
- Risk is
- Precaitions
- Avoid contact sports
- Take to hospital if suffers trauma, especially to the head, or if symptoms of drowisness, dysarthria, dysphagia
- AVOID ASPRIN AND NSAIDs
30% of patients with haemophilia will have “inhibitors”.
Explain what this means and how the lab tells?
A raised APTT may suggest
- factor defficiency [what you typically think of in haemophilia]
OR
- factor inhibitor [an antibody made against a factor, such as lupus anticoagulant or antibodies formed by haemophilia patients receiving recombinant factors]
How can the lab tell the difference? Mixing studies
What is the treatment of haemophilia?
Haemophilia A
Mild - Moderate
- DDAVP after Challenge Test
- Tranexamic acid
Severe
- Recombinant factor VIII infusions
Haemophilia B
Mild - Moderate
- Tranexamic acid
Severe
- Recombinant factor IX infusions
In what conditions can DDAVP be used? What needs to be done before it’s use?
VWF Type 1 and Factor VIII defficiency (Haemophilia A)
A challenege test (give DDAVP and monitor factor VIII / VWF levels. Also watch for hyponatraemia / BP)
What is the most common malignany of childhood?
And of this, what is the most common type?
Leukaemia
ALL is the most common (80%)
AML is the next common (20%)
What are the symptoms of Leukaemia?
With which symptoms do acute leukaemis tend to present with, and which do chronic leukaemias tend to present with?
Constitutional symptoms
(B symptoms)
- Fever
- Nigh sweats
- LOW
Symptoms of bone marrow infiltration - ACUTE LEUK
- symptoms of anaemia
- severe, persistent, unusual or recurrent infections
- bruising
Symptoms of other ogran infiltration - CHRONI LEUK
- lymphadenopathy
- splenomegaly
- hepatomegaly
What are the causes of bruising in a child?
Sepsis (meningococcal)
HSP / HUS / Haemophilia
ITP
Events (non accidental injury or trauma)
Leukaemia
DIC (usually in the context of severe illness)
What are the typical features of HSP?
HSP typically presents with the triad of:
- Purpuric rash (non-blanching rash usually over lower limbs and buttocks, may be over posterior aspect of elbows)
- Joint pain / swelling (migratory in nature)
- Abdominal pain
May also consist of
- Renal disease: A nephritic syndrome - haematuria, proteinuria, isolated hypertension, renal insufficiency and renal failure (
- Subcutaenous oedema of the scrotum, hands, feet and sacrum
- Abdominal - intussusception, malaena, haematemasis, spontaneous bowel perforation or pancreatitis
What basic Ix should you perform for HSP?
Bedside Test
- Urine dipstick
- BP
Labratory Tests
- UEC
- Urine MC&S
What is the management of HSP?
Basics
- Paracetamol for pain relief
Place & Person
- Admit for observations and investigations
- Can usually be managed as an out-patient
Ix and confirm diagnosis
- BP
- urine dipstick
- urine MC&S
- UEC
Defitive management
- Supportive care and frequent monitoring (including BP and urine dipstick)
- HSP nephritis (IgA nephropathy) can occur at the time of HSP, or 6 weeks – 6 months later. Continue to screen for this time.
Prognosis
- The use of prednisolone has not been shown to make clinically important improvements in the rate of long-term renal complications – this was recently removed from the RCH guidelines!
What type of renal syndrome can occur in HSP?
Nephritic syndrome
What are the common childhood malignancies?
When does neuroblastoma tend to present in children?
When does a retinoblastoma tend to present in children?
What is the most common type of SOLID tumor in paeds?
brain tumours!
What are the two types of neurfibromatosis and what are they associated with?
- Neurofibromatosis type I, in which the nerve tissue grows tumors (neurofibromas) that may be benign and may cause serious damage by compressing nerves and other tissues.
- Neurofibromatosis type II, in which bilateral acoustic neuromas (tumors of the vestibulocochlear nerve or cranial nerve 8 (CN VIII) also known as schwannoma) develop, often leading to hearing loss.
What are the top two causes of abdominal mass in a child (for Monash exams)?
Neuroblastoma
Wilm’s Tumour (Nephroblastoma)
What is a neuroblastoma?
A cancer which arises from the neural crest cells that precede the sympathetic ANS & can occur in adrenal medulla (most commonly) or abdominal, thoracic and pelvic ganglia.
in what age group does a neuroblastoma occur?
How does it present?
The most common cance of infancy
Arises in children
Fatigue, loss of apetite, loss of weight, night sweats
mass in the abdominal cavity
sometimes causing constipation
hypertension (from catecholamine secretion or comression of renal artery)
tacchycardia
May have interesting paraneoplastic effects:
- Opsomyoclonus (dancing eyes, dancing feet syndrome)
- Excessive catecholamines: flushing, tachycardia, HTN
- VIP secretion – severe refractory diarrhea with FTT and low K+
Does neurofibromatosis cause an increased risk of neuroblastoma?
NO
The two are unrelated.
Neurofibromatosis is a SYNDROME characterised by skin lesions, and patients have an increased risk of BRAIN TUMOURS.
Neuroblastoma is a cancer arising from the sympathetic peripheral nervous system, and often presents as a mass in the abdominal cavity
Is a neuroblastoma symptomatic at diagnosis?
yes, it often is.
Moreover, at diagnosis 75% of patients with neuroblastoma have metastases
What is the other name for a Wilm’s tumour?
Nephroblastoma
Is a Wilm’s tumor normally symptomatic?
No
What are the symptoms of a Wilm’s tumour?
- Often asymptomatic mass
- May rupture, bleed and cause pain (20%)
- Haematuria and HTN occur in some patients. Can cause an aquired vWD.
What are the features of Tetralogy of Fallot? What are the features of Pentology of Fallot?
- pulmonary stenosis
- RVH
- VSD
- over-arching aorta
(5. ASD)
When and how does TOF tend to present?
When the child is >3 months of age
Presents as failure to thrive, reduced exercise tolerance, clubbing of fingers and tet spells.
They are not cyanosed at birth - may be cyanosed after 6-12 weeks
What is a Tet spell?
The classic story is severe, painful cyanosis on exertion/stress (feeding or crying).
Older children will classically squat in order to increase systemic resistance and reduce R–>L shunting
What is the management of Tet spells?
Basics
Comfort the child in a position with their hips and knees flexed to increase systemic resistance and thereby R–>L shunt.
Oxygen
IV fluids
B blockers
IM morphine
Place and Person
Refer to paediatric cardiac surgery
Ix and confirm diagnosis
With echocardiogram
Definitive management
Surgical
Long Term
Ongoing paediatric review
What chromosomal abnormality is TOF related to?
What else is related to this abnormality?
Deletion of the long arm of choromosome 22
What else is related? Think CATCH 22
Cardiac (TOD, TGA)
Abnormal facies
Thymic hypolasia (T cell deficiency)
Cleft palate
Hypocalcaemia/hypoparathyroidism
What is the most common cyanotic congenital heart disease?
TOF
What are the murmurs / added heart sounds of a large and small VSD?
small VSD: loud pansystolic murmur
large VSD: softer pansystolic murmur + loud P2 (due to pulmonary hypertension)
When does TOF normally present?
6-12 weeks of life (Tom)
3-6 months of life (BMJ)
Lis the age-specific causes of a limp in a child.
List the general causes.
0-4 years: DDH & Toddler’s #
4-10 years: Perthes
10 + years: SUFE, stress fracture, overuse injury
General (non-age specific causes)
MINIVAN
Malignancy - leukaemia, solid tumour infiltration and osteosarcoma
Infection - transient synovitis, septic arthritis, osteomyelitis
Non-accidental injury / other trauma
Ingionoscrotal (testicular torsion)
Vasculitis (HSP) and other rheumatological conditions (JIA) or rheumatic fever
Appendicitis with psoas involvement / other abdominal pathology
Neuromuscular disease (CP and DMD)
How does transient synovitis of the hip usually present, and how long does it take to improve naturally?
Often a viral ilness is preceding it.
It should improve in two days and resolve in 3 weeks.
what pain relief is recommended for children?
simple analgaesia
- paracetamol: 15mg / kg four hourle (never exceed 1g / dose)
- NSAIDs - care in asthma
Do NOT give asprin (Reye’s syndrome; asprin + viral ilness)
DEscribe the movements involved in Barlow’s and Ortolani’s Test
Barlow:
Flexion + adduction/IR + compression along the line of the femur
Ortolani:
Flexion + abduction/ER
When should the Ortolani’s and Barlow’s Test be performed?
at birth
within the first 48 hours
6 weeks
3 months
6 months
1 year
what are the risk factors for DDH?
“Packaging Problems”
- Macrosomia
- Oligohydramnios
- Breach position
- Multiple gestation?
Also..
- Female
- First born
- FHx
What are the appropriate investigations for DDH?
After 6/52 - can use ultrasound
After 6/12 - can use xray
If a neonate has risk factors for DDH, but has a negative Ortolani and Barlow’s test immediately after birth and after 48 hours, what investigations should be performed?
They should still receive a 6/52 ultrasound
What is Perthes?
Who is most likely to get it?
AVN of the femoral head
Boys
4-8 years old
Who gets SUFE?
How is it diagnosed?
Overweight children
Late childhood / adolescence
Plain xray
“Frog leg” position
If the line of the femoral neck does not intersect with the head –> Dx SUFE
What is the Rx of DDH / Perthes?
Young - Pavlik Harness
Older - Broomstick cast
Both are to increased apposition between the femroal head and the acetabulum
What is Still’s Disease?
The systemic sub-type of JIA
What are the main subtypes of JIA?
- Oligoarthritis - 4 or fewer joints affected in the first 6 months of the disease
- Polyarthritis - more than four joints affected in the first 6 months. This can be further classified into Rh + or Rh -
- Systemic
What investigations should you perform if suspecting JIA?
Bedside Tests
- Temperature
Lab Tests
- FBE (May be a microcytic anaemia of CD)
- CRR, ESR
- ANA (carries risk of anterior uveitis)
- Rh Factor
- HLAB27 genotyping
Imaging
- Plan xray may reveal eroded joints, but not diagnosic
What are the diagnostic crietria of kawaski disease?
A temperature of >39 for >5 days + 4/5 of the following criteria
- Lymphadenopathy >1.5cm
- Red mouth and lips “Strawberry tongue”
- Desquamation of the extermities
- Bi-lateral non-purulent conjunctivitis
- Rash
But if have abnormal echocardiogram, can have
How to remember?
FLAMER
Fever
Lymphadenopathy
Atypical - Arteries
Mouth & Lips
Extremities & Eyes
Rash
CRASH and Burn
Conjunctivities
Rash
Adenopathy
Strawberry tongue
Hand and feet
Burn = Fever
What is the management of Kawasaki Disease?
Basics
- Analagaesia for pain relief
- Encourage fluids / NGT if dehydrated or poor feeding
Place and Person
- Contact paediatrics rheumatology
- Admit
Investigate and Confirm Diagnosis
- Bedside tests
- ECG
- Urinalysis
- Labratory Tests
- ASOT/Anti DNase B (to exclude strep throat, scarlett fever)
- FBE
- CRP/ESR
- LFT
- Imaging
- Echocardiogram
Definitive Management
- IV Ig (10 days)
- Asprin (6-8 weeks)
Ongoing Management / Follow-Up
- Repeat echo at 6/52
what are the major crieria for rheumatic fever?
what is the required criteria?
how do you diagnose ARF?
Required criteria - evidence of antecedent strep infection (ASO or anti DNA-se B, strep grown from NPA, previous scarlett fever)
Major criteria - JONES
Joint
O - Carditis
Nodules
Erythema marginatum
Sydenham’s chorea
Diagnose with required criteria + 2 major criteria
OR
required criteria + 1 major + 2 minor
OR sydenham’s chorea alone
What is the management of ARF?
Basics
- Analgaesia for arthlagia
- Fluids / NGT if dehydrated
Place and Person
- Contact paediatrics
- May need to admit if CHF
Investogate & Confirm Diagnosis
- Bedside Tests
- ECG
- Labratory Tests
- FBE
- Blood cultures
- NP swab
- ESR / CRP
- ASOT / Anti-DNAse B
- Imaging
- Echo
- Xray of painful joints
Definitive Management
- Benzathine Penicillin IM
- 10 day course of phenoxymethylpenicillin V
Follow Up
How do you conceptualise paediatric heart defects?
- Cyanotic Heart Defects
- R–>L shunt
- Acyanotic Heart Defects
- L–>R shunt
- Obstructive heart defects
What are the obstructive heart lesions?
hypoplastic L heart syndrome
aortic stenosis
coarctation of the aorta
interrupted aortic arch
Which group of congenital heart defects are always duct dependent?
Which group of congeintal heart defects are sometimes duct dependent?
Which group of congenital heart defects are never duct dependent?
always - obstructive
sometimes - cyanotic / R –> L shunt
never - ASD, VSD, PDA
how do obstructive cardiac defects normally present?
“shocked neonate” – dusky colour, weak or absent pulses, low BP, reduced UO, metabolic acidosis
Often present on day two of life when ductus arteriosus closes
What is the general management of all obstructive heart defects?
DRABC
PGE1
Urgent surgical referral
Which congenital heart defect is associated with Turner’s syndrome?
Aortic coarctation
What are some causes of neonatal cyanosis?
“CRI”
(Think: “cry”)
Cardiac
- R –> L shunts
Pulmonary
- RDS
- PPHN
- Mecosium aspiration
Infection
- GBS
- E coli
- Listeria
When should Apgars me performed?
At 1 and 5 minutes after both (if low at 5 minutes, might be done again at 10)
What are the components of Apgar?
Appearance (blue, partly blue, pink)
Pulse (absent, under 100, over 100)
Grimace (no response to stimulation, some response to stimulation, cry to stimulation)
Activity (Flat, Some flexion, some flexion which resists extension)
Respiratory effort (None, some, good cry)
What is the murmur which can be heard in TOF?
ES murmur in the pulmonary area
Loud, single S2
what might severe TOF look like on CXR
boot shaped heart
what might TGA look like on CXR?
heart looks like ‘egg on its side’
When does TGA usually present?
When does TOF usually present?
TGA - in neonatal period. Often after day 2-3 when ductus has closed.
TOF - in infancy, as cyanotic / tet spells when crying or exerting oneself + failure to thrive + recurrent respiratory infections
what is heard on ausculatation with an ASD?
wide fixed splitting of S2
What is heard on auscultation of a PDA?
What is felt on palpation of the pulses?
Machinery murmur with bounding pulses
Such murmurs may be present throughout the cardiac cycle (‘machinery murmur’), but may disappear during diastole and be mistaken for a systolic murmur, especially if the duct is large and there is associated pulmonary hypertension.
What is the general definitive management in INFANTS with heart failure?
Medical
Diuretics - frusemide or spironolactone
ACEi
Oxygen
Consider inotropic support if necessary
High caloric diet
Urgent surgical referral
When does ductus arteriosus close in a term child?
In a preterm child?
Usually after 2 days
May take one month in a term child
May take 2 years in a preterm child
what is used to close a symptomatic PDA?
INDOMETHACIN OR IBUPROFEN
CAN BE SLOSED SURGICALLY IF REQUIRED
What are the GI causes of vomitting in a child?
FAMINE HIP GAIT
Food allergy
Atresia (oesophageal or duodenal)
Meconium ileus
Intussception
Necrotising enterocolitis
Eosinophillic oesophagitis
Hirschbrungs
Intestinal malrotation
Pyloric stenosis
GOR / GORD
Appendicitis & strangulated inguinal hernia
Imperforate anus
Trahceo-oesophageal fistula
What are the causes of vomiting in a child?
GI
- FAMINE HIP GAIT
Infectious
- Meningitis
- Gastroenteritis
- Pertusis
Neuroligcal
- Increased ICP
Endocrinological
- DKA
- Errors of inbron metabolism
Other
- over-feeding in infants
- bulaemia in adolescents
- pregnancy in adolescents
At what age does intussusception present?
How common is it?
How does it present?
The most common cause of bowel obstruction between 6 months and 2 years of age.
Presnts as:
- Intermittent episodes of crying + knee flexion (intermittent episodes of pain)
- Turn white during this period (as opposed to red)
- Bilious vomiting
- Recurrent jelly stools
- Sausage shaped mass palpable in RUQ
What is seen on abdominal xray of intussusception?
Target sign
Cresent sign
What is the management of intussusception?
Basics
- DRABC if shocked
- Analgaesia
- NGT / IV fluids if dehydrated
Place and Person
- Admit and contact paeds surgical team
Ix and confirm diagnosis
- FBE & group and hold prior to surgery
- UEC if dehrydrated
- AXR
- US
Management
- IV antis prior to enema? discuss with surgical team
- Air enema
- Surgical reduction if this is unsuccessful (25% are unsuccessful)
Follow Up
- Follow up with paeds surg post op
What are two mimickers of appendicitis?
Meckel’s diverticulum
Mesenteric lymphadenopathy
Ovarian pathology in an older female
Constupation
What is bilious vomiting in the first week of life, until proven otherwise?
Intestinal malrotation
If a neonate has bilious vomiting in the first week of life, and their mother had polyhydramnios, what is the cause?
duodenal atresia
what is the gold standard investigation of malrotation, and what is the sign seen?
Barium meal
Corkscrew sign
What is the management of intestinal malrotation?
Basics
- Analgaesia
- NBM
- NGT
- IV fluids to replace deficit and for maintenance
Place and Person
- Admit
- Contact paeds surg / NETS if in rural setting
Ix and Confirm Diagnosis
- FBE
- Group and hold
- AXR
- Barium meal - look for corkscrew sign
Definitive management
- Ladd procedure
Follow-Up
- Organise follow up with paeds gastro / general paediatrician - ensure adequate growth and weight gain
Explain the pathophysiology of Malrotation
Embryologically, the bowel should rotate 270 degrees (in three stages, each 90 degrees).
The last 90 degrees fails to take place.
This means the colon is in the wrong position and the mesentery has a narrow base, the small bowel can therefore twist on itself –> ischaemia –> necrosis
Is it really the malrotation which is dangerous?
No, it is malrotation + VOLVULOUS
How do meconium ileus and hirschprungs present similarly?
How do they present differently?
Both present with progressive abdominal distension and failure to pass meconium. Vomiting is a later sign and is bilious / faeculent.
The difference is:
Meconium ileus has an empty rectum on PR examintaion
Hirschprungs has an explosive rectum on PR examination
When should meconium be passed?
99% passed in 24 hours
Abnormal if not passed after 3 days
How do you investigate for Hirschprungs?
Suction rectal biopsy
What is the carrier rate of the CF gene in the caucasian population?
what is the incidence of CF?
1 in 25
1 in 2500
polyhydramnios + bilious vomits = ?
polyhydraminios + respiratory disress = ?
polyhydramnios + macrosomic baby = ?
duodenal atresia
TOF (tracheooesophageal fistula)
GDM
What is the feature of duodenal atresia on AXR?
double bubble sign
When monash sates that liqor is “apparnetly” meconium stained?
this could be bilious vomiting
What is the management of duodenal atresia?
Basics
- NBM
- ‘Drip and Suck’
- IV fluids
- NGT
Place and Person
- Paediatric Surg / NETS
Ix and Confirm Diagnosis
- AXR - look for double bubble sign
- Barium meal
Defiitive management
- Surgical - anastomsis of the duodenum
Follow-up
- Small feeds regularly
- Follow up with paediatrician / GP to ensure weight gain
- Consider important associations eg. Trisomy 21, cardiac defects
What is the electrolye and pH disurbance seen in pyloric stenosis?
hypocholaraemic, hyponatraemic, hypokalaemic metabolic alkalsosis
- hypocholaramiec and hyponatraemic from vomiting
- acidotic from vomiting
- hypokalaemic because the nephron swaps H+ for K+ to compensate for alkalosis
What features of PS would you ascertain on history?
Projectile, non-bilious vomiting
Weight loss
Feeding immediately after meals
Male
First born
Caucasian
FHx PS
What might you see on examination of an infant with pyloric stenosis?
The three Ps
palpable olive in the RUQ
visible peristalsis
projectile vomiting
+
signs of dehydration
What is the management of pyloric stenosis?
Basics
- NBM
- NGT
- IV fluids to replace deficit and for maintenance prior to surgery
Place and Person
- Paeds gastro / NETS
Ix and Confirm Diagnosis
- Measure weight
- Blood Group and Cross Match prior to surgery
- UEC
- ABG
- Ultrasound
Definitive Management
- Correct electrolyte / acid-base derrangement
- Ramstedt operation: pyloromyotomy
Follow Up
- Organise follow up to ensure weight gain and meting normal growth parameters
What are the signs of dehydration?
- General appearance
- Flat / floppy OR miserable OR well
- Not cyring tears
- Thirsty
- Vitals
- Loss of weight
- Tacchypnoeic (early sign)
- Tacchcardic (later sign)
- Hypotensive (very late sign)
- Hands
- Cold peripheries
- Mottled skin
- Head / Face
- sunken fontenelles
- suken eyes
- dry mucous membranes
- Chest
- Central capillary refill
- Reduced skin turgor
- Other
- crying tears?
- wet nappies?
What are the components of fluid one needs to replace (in terms of IV rehydration) according to the RCH?
- Bolus fluid (if if hypovolaemic shock)
- Replace deficit (according to degree of dehydration)
- Maintenance fluid (according to body weight)
(+ replace ongoing losses if vomiting whlist in hospital)
What fluid should be given first if a cihld is in hypovolaemic shock? How much and at what rate?
How do you then calculate further fluid requirements?
Bolus of 10-20mL per kilogram of 0.9% NS
keep on giving until signs of shock improve
As quick as possible
Don’t include this fluid in further calculations for fluid requirements.
How do you decide how much fluid deficit there is?
What fluid do you give? How much? How quickly?
Assess clinical picture of dehydration
Mild dehydration
Moderate 4-6%
Severe >7%
Should use 0.9% NS
The amount of fluid is this % of the childs body weight (eg. a 10kg child who is 5% dehydrated should receive 500mL)
The rate of rehydration should be adjusted with ongoing assessment of the child.
what does mild dehyradtion mean according to the RCH guidelines (both clinically and in terms of deficit)?
moderate?
severe?
Mild - (0.4%)
- no clinic signs, maybe thirsy
Moderature - (4-6%)
- essentially signs other than shock
- Delayed CRT > 2 secs
- Increased respiratory rate
- Mild decreased tissue turgor
Severe (>7%)
- shocked
- Very delayed CRT > 3 secs, mottled skin
- Other signs of shock (tachycardia, irritable or reduced conscious level, hypotension)
- Deep, acidotic breathing
- Decreased tissue turgor
what methods of rehydration should you try to employ?
- oral (eg. gastrolyte icypole)
- NGT
- IV
what type of fluid should you use for a bolus?
what type of fluid should you use for replacement of deficit?
what type of fluid should you use for maintenance?
bolus = 0.9% NS
replacement of deficit = 0.9% NS
maintenance = 0.9% NS + 5% glucose / 0.45% NS + 5% glucose
(Premade solutions with potassium chloride 20mmol/L are available and should be used unless the serum potassium is elevated, there is anuria or renal failure.)
how do you calculate maintenance fluid?
how much fluid would a 30kg child receive as maintenance?
What would this fluid be?
4,2,1 rule
4mL/kg/hour for the first 10kg
2mL/kg/hour for the next 10kg
1ml/kg/hour for every kg after that
A 30kg child would receive 70mL/hour
NS+5% glucose or 1/2 NS + 5% glucose
what is the difference between GOR and GORD?
GOR - physiological vomiting due to reduced tone of oesophageal sphincter. Baby is meeting all centiles for height and weight.
GORD - GOR + complications (FTT, oesophagitis, respiratory symptoms)
What is the management of GOR / GORD?
Basics
- Weight child, and plot
- Measure height and HC
Place and Person
Investigate and confirm Dx
- Clinical diagnosis - but screen in history for any complications (haematemesis, respiratory issues, FTT) to see if GORD vs GOR
Management
- Non-Pharmacoloigical
- Can add thickener to formula or to EBM
- Prop upright / at angle after feeding
- Pharmacological (if severe or if GORD)
- H2 receptor antagonists
- PPI
Follow Up
- Continue to check weight and other measurements
When does PS present?
When does intussusception typically present?
PS: 2-6 weeks
Intussusception: 6 months - 2 years
What are the DDx for abdominal pain?
MIDGUT MISHAP
Migraines - abdominal
Intussception
DKA
Gastroenteritis
UTI
Testiicular Torsion
Malignancy (Wilm’s, Leukaemia, Neuroblastoma)
Inguinal hernia - stranulated
Stuck poo (constipation)
HSP
Appendix + mimickers (mesenteric adenopathy / Meckel’s diverticulum)
Pregnancy / ectopics / gynae
what is the Dx of a child who has had gastroenteritis, and no longer had any abdominal pain, vomiting or abdominal distension but has ongoing diarrhoea for two weeks?
(common Monash EMQ)
post gastro-enteritis lactase deficiency
A kid with wasted buttocks, abdominal distension and FTT?
(Common Monash EMQ)
Coeliac Disease
What is the clinical picture of coeliac disease?
Chronic diarrhoea / steatorrhea
FTT
Abdmonial pain / bloating
Wasted buttocks
*consider iron deficiency as a complication
What investigations are required to diagnose coeliac disease?
Bedside Tests
- random BGL
Labratory Tests
- Coeliac serology (anti-TTG, anti-gliadin & IGA)
- FBE (to see if anaemic)
- TFTs (because associated with CD!)
- HBA1c (because associated with CD!)
Invasive
- SOMETIMES an intestinal biopsy is performed
What is the management of coeliac disease?
Basics
- Ensure adequate hydration
Investigations and Confirm Diagnosis
- Coeliac serology
- FBE
- TFTs
- HBA1c
- BGL
Definitive Management
- Gluten Free Diet (avoid Barkey, Rye, Oats and Wheat)
Ongoing Management
- Screen for and treat throid dysfunction
- Screen for and treat T1DM
- Iron supplementation / increase iron in diet / monitor iron levels
- Vit D / Calcium supplementation / increase in diet / monitor levels
- Monitor folate levels / increased folate in diet / folate supplementation
What are the possible complications of coeliac disease?
FTT / short stature / delayed puberty
Increased risk of malignancy (reduced if controlled)
Iron deficieny anaemia
Ostoepenia
Dental enamel hypoplasia
what is the difference between an inguinal hernia and a hydrocele, anatomically?
both involve a patent processus vaginalis
in an inguinal hernia, the processus vaginalis is big enough to allow a part of the small bowel thorugh
in a hydrocele, it is patent but only big enough to let water thorugh
how does an inguinal hernia normally present?
how should you treat it?
swelling in the groin
if reducible - likely to be intermittent, painless swelling
if irreducible / strangulated - painful abdomen
Basics
- NBM
- IV maintenance fluids
- analgaesia
Place and Person
- Urgent surgical referral (state whether it is reducble or irreducible)
Investigate
- may perform U/S
Definitive management
- Surgery
Differientiate between undescended testes and retractile testes.
What are the clinical classifications of undescended testes in a newborn?
Undescended testes - the scortal sac is empty. The testes can be palpable or non-palpable.
Retractile testes - normal. Testes are still in the scrotal sac, but are lifted up into the abdominal cavity, for example, when the boy is cold.
What is the management of undescended testes diagnosed in a newborn?
Palpable - wait 3 months. Then if not descended –> surgical referral. Surgery at 6-9 months.
Non-palpable - surgical referral now
What are the complications of CF?
MR PANCREAS
Meconium Ileus / Distal Intestinal Obstruction
Recurrent infections
Pancreatic failure (exocrine and endocrine)
Allergic Bronchopulmonary Aspergilliosis
Nasal polyps and sinusutus
Cirrhosis of the liver
Restricted growth
Emotions
Airway leaks (males)
Sterility in males
What is the initial investigate performed in newborn screening for CF?
Levels of immunoreactive tripsin are tested for on the Gutherie Card (with the blood collected via heel prick test).
If IRT is high when testing for CF, what tests are performed next?
CFTR gene mutations screened for on Gutherie Card
(most common is delta F507)
+/-
Sweat Test
What is the incidence of CF?
What inheritence pattern is it?
What is the most common genetic mutation causing CF?
1:2500
autosomal recessive
Delta F507 (Long arm of Chromosome 7)
What is tested for on newborn screening?
Congenital hypothyroidism
CF
Metabolic disorders eg. PKU
What is the DDx of a wheeze?
Concerning Airway Wall
- Constrction*
- Asthma
- Compression*
- Mediastinal mass
- Congenial heart disease eg. causing L-R shunt and causing engorgment of the pulmonary vasculature
Structure
- Bronchomalacia
- Tracheomalacia
- Bronchopulmonary Dysplasia
Concerning Airway Lumen
Pus / Infection
- Bronchiolitis
- Viral Induced Wheeze / Asthma
- Pneumonia
- Petussis
- Croup (even though an URTI)
- Gunk*
- CF
- Other*
- FB
What are the causes of stridor?
With Fever
- Abcess (peritonsillar - qunsiy, or retrophrayngeal)
- Big tonsils / bacterial tonsillitis
- Croup
- Diptheria
- Epiglottitis
Without Fever
- Floppy airways (tracheomalacia, laryngomalacia)
- Gagging on a foreign body
- Hypersensitivity / haemangioma
How do you classify asthma in children?
Infrequent Intermittent
Frequent Intermittent
Persistent
- Mild
- Moderate
- Severe
How do you classify asthma as infrequent intermittent?
Attacks are >6 weeks apart
No interval symptoms (morning cough / wheeze, night cough / wheeze, exercise tolerance, days at school missed)
How do you classify Frequent intermittent asthma?
Attacks are
No interval symptoms (morning cough / wheeze, night cough / wheeze, exercise tolerance, number of days missed at school)
How do you classify persitent asthma?
How do you further classify it?
Attacks
Mild = interval symptoms are less than 1 x per week
Moderate = 1 x per week
Severe = >1 x per week
What questions ascertain whether or not a person has interval symptoms?
Morning cough / wheeze?
Night cough / wheeze?
Reduced exercise tolerance? (Able to keep up with kids in sport / at school)
Missed days at school because of asthma?
What questions in the HOPC should you ask to classify a child’s asthma?
Q - how often do you have attacks?
Q - when you do have attacks, do you have to
- miss school
- go to ED
- be admitted to the ward
- be admitted to ICU
- take prednisolone (how many times have you used prednisolone in the last 12 months)
A - what triggers your asthma?
A - which medications allieviate it? Have you had to take prednisolone in the last 12 months? How often do you have to use your reliever?
What should be used in the treatment of infrequent intermittent asthma?
SABA prn
What treatment should be used for frequent intermittent asthma?
SABA prn
+preventor (ICS or chromone or LTRA or combination)
what treatment should be used for frequent presistent asthma?
SABA prn
Symptoms controller: ICS + or minus LTRA / cromone
LABA
oral corticosteroid
What would you look for on examination to ascertain the severity of a respiratory illness, such as asthma?
Primary Features
- WOB
- Neurological Status
Secondary Features
- SPO2
- HR
- Ability to talk
What are the signs of increased WOB?
- Increased RR
- Cyanosis
- Grunting
- Nasal flare
- Intercostal / Subcostal recession
- Head bobbing
What is the mnemonic to remember the management of asthma?
OASIS
Oxygen
And (Amyophilline / MGSO4 if severe, in ICU)
Salbutamol
Ipatropium Bromide
Steroids
Describe the management of a mild exacerbation of asthma
Basics
- make comfortable and reassure
- paracetamol for comfort if febrile due to viral induced
- assess hydration status: oral, NG or IV fluids if dehydrated (but avoid IV, procedure will make breathing more difficult)
Place and Person
- Contact Paeds resp team, likely to be monitored in ED
Ix and Confirm Diagnosis
- SpO2
Definitive Management
O - no oxygen unless SpO2 is
A
Salbutamol - 6 puffs if 6
I
Steroids - 1mg/kg of prednisolone for 3 days
Plan / Follow Up
Medication review
Education RE asthma delivery devices
Describe the management of a moderate exacerbation of asthma?
Basics
- Make the child comfortable
- Paracetamol for comfort if febrile (viral-induced exacerbation)
- Assess hydration status - encourage oral fluids, consider NGT or IV fluids if necessary, but try to avoid procedures as this may further upset patient
Place and Person
- Contact paediatric team
Ix and confirm Dx
- SpO2
Definitive Management
- Oxygen via NP
- A
- Salbutamol - burst therapy:
- Six puffs every 20 minutes x 3 if
- 12 puffs every 20 mins x 3 if >6yo
- Iprtropium bromide - not in moderate asthma in victoria
- Steroids: 1mg/kg for 5 days
Follow Up
- Medication review
- Ensure correct use of asthma delivery devices
What is salbutamol burst therapy?
When should you give it?
6 puffs of salbutamol every 20 minutes x 3 if
12 puffs of salbutamol every 20 minutes x 3 if >6yo
In moderate or severe exacerbations of asthma
What is the trade name for ipratropium bromide?
Atrovent
When should you give ipratropium bromide?
(ie. in what severity of acute asthma)
how much should you give?
in severe exacerbations of asthma
4 puffs every 20 mins if
8 puffs every 20 minutes if >6 years old (with salbutamol)
What is the management of a severe exacerbation of asthma?
Basics
- Comfort child (but the child is usually flat)
- Paracetamol for comfort if febrile
- Oral, NG or IV fluids if dehydrated
Place and Person
- Contact paeds resp / paeds ICU
- Contact PIPER if rurally
Investigate and confirm Dx
- SpO2
- ABG (if doesn’t further upset child)
Definitive management:
- Oxygen - via HFNP or CPAP or consider intubation
- Salbtamol Burst therapy - MDI or nebulised
- Ipretropium bromide
- 4 puffs every 20 minutes if
- 8 puffs every 20 minutes if >6yo, x 3
- Steroids - IV methylprednisolone
- MgSO4 or amiophilline in ICU
Follow Up
- Medication review
- Ensure correct understanding and usage of asthma delivery devices
Compare the rash in measels (rubeola) to the rash in roseola infantum (exanthem subitum)
Measels - the rash starts around hairline and spreads cephalocaudadly over 3 days
Roseola infantum - the rash starts on the trunk after a fever
How does the rash in rubella (German measels) present?
Begins of face and spreads cephalocaudadly
What are the different types of PCKD?
When does each present?
How common and severe is each one?
Autosomal Dominant PCKD presents later in life, is not as dangerous. Is more common.
Autosomal Recessive PCKD presents in infancy, is more dangerous. Is rare.
How do you differentiate MCKD with PCKD?
PCKD involved both kidneys
A 3-year-old boy with a large unilateral palpable mass found on examination, carried out because of his intermittent abdominal pain and recent onset of haematuria.
This is HSP
According to RH, what does a big spleen favour and what does lymphadenopathy favour?
A big spleen favours leukaemia, while
lymphadenopathy favours lymphoma
Chest X-ray – lungs have a ground glass appearance with air bronchograms
= ?
Hyaline Membrane Disease
What is SMA?
How does type 1 typically present?
Autosomal recessive degeneration of the anterior horn cells
SMA Type 1 presents at birth (if not as reduced FM beforehand). Typical signs include:
- Tongue fasciulations
- Lack of antigravity power in hip flexors / loss of tone
- Absent deep tendon reflexes
- IC recession
These babies will never sit and will die at 12 months due to respiratory failure.
Type 2 will sit but never walk.
Type 3 will walk
What is Friedrich’s Ataxia?
What is it’s clinical picture?
Autosomal recessive disorder causing degeneration of peripheral and spinal nerves.
It presents as:
- Progressive ataxia
- Optic atrophy
- Kyphoscoliosis
- Cardiomyopathy
What is ataxia telangiectasia?
What is it’s clinical presentation?
Autosomal recessive condition
A disorder of DNA repair
Increased suscetibility to infection
Cerebellar signs / ataxia
Increased risk of ALL
Broadly speaking, what is the definition of the neurocutaenous syndromes?
What are the major types?
The skin and the nervous system are derived from the same embryological tissue.
Embryological distruption causes syndromes involving abnormalities to both systems. These are called the neurocutaenous syndromes.
Types include NF Type 1 and 2 as well as Tuberose Sclerosis and Sturge-Weber Syndrome
What is NF and how does it present?
A neurocutaneous syndrome.
Neurofibromata appear along the course of a peripheral nerve, including CNs. They may cause neuro signs if they are at a point at which the nerve passes through a bony foramen.
Cafe au lait spots and axillary freckling are common
What is Tuberous sclerosis?
How does it present?
An autosomal dominant neurocutaneous syndrome.
Cutaneous features include:
- depigmented ash leaf patch
- Roughened patches of skin (Shagreen patches) usually over the lumbar spine
- Adenoma sebaceum (angiofibromatoma) in a butterfly distribution over the nose
Neurological features:
- Infantile spasms
- Epilepsy
- ID
- Develpomental delay
What is Sturge Weber Syndrome?
Port Wine stain over the distribution of the trigeminal nerve which is associated with a similar intracranial lesion.
In the most severe form this presents as eplispesy, ID and hemiplegia.
how do you differentiate between a conjugated and unconjugated hyperbilirubinaemia?
If conjugated is >15% = conjugated
If unconjugated is >85% = unconjugated
A full term infant is noted to be jaundiced at birth. His bilirubin is elevated at 205 umol/L (normal range;
Diagnosis?
Congenital CMV
What is alagille syndrome associated with?
Traingular facies
peripheral pulmonary stenosis / pulmonary valve stenosis
intra-hepatic biliary hypoplasia
eye defects
butterfly vertebrae
what is associated with a bounding peripheral pulse?
PDA
What is Dravet Syndrome?
Really a type of epilepsy
Dravet syndrome appears during the first year of life, often beginning around six months of age with frequent febrile seizures (fever-related seizures).
Can present as different types of seizures
Persist into later life, cause significant developmental delay
How migh rhabdomyosarcome present?
Head and neck are the most common sites of the tumor causes proptosis, nasal obstruction or blood stained nasal discharge
what is the treatment of Giardiasis?
oral metronidazole
A 2-week-old male infant presents with failure to thrive and recurrent vomiting.
He has a metabolic acidosis, high K, and low Na and Cl?
CAH
Congenital lack of mineralocorticoids and glucocorticoids gives rise to salt wasting and sometimes ambiguous genitalia because of increased androgens.
what do you use as ABx prophylaxis post splenectomy?
oral penicillin
What is Sandifer’s syndrome?
Although not common Sandifer syndrome is seen in some babies with GORD and is not epilepsy.
A 7 month old girl with severe gastro-oesophageal reflux is staying with her grand parents. She has not been receiving her normal reflux medication. She is now having episodes of back arching and posturing of the head.
Sandifer’s Syndrome
‘fixed split of S2’ = ?
ASD
what is the most common congenitall heart defect in Trisomy 21?
AVSD
How do you diagnose Hirschprung’s?
Suction Rectal Biopsy
What is the significance of a recent infection in the context of intussception?
Looking for a pathological lead point
Peyers patches are often a lead point
(HSP can give a lead point as well)
What is another name of an undescended testis?
Cryptorchidism
At what age do you consider surgical referral in cryptorchidism?
What is the surgical procedure called and at what age is it performed?
If the testis hasn’t descended by 3 months conisder surgical referral.
Orchidopexy is the name of the procedure, it is best done at 6-12 months of age
what are the risks of cryptorchidism?
are these risks reduced with orchidopexy?
What are the benefits of orchidopexy?
infertility and malignancy
these risks are not reduced with orchidopexy
improves the endocrine function of the testis and facilitates testicular self-examination, also reduces the risk of torsion and direct trauma.
What are the findings on blood film for G6PDD?
Heinz bodies
You are called urgently to see a 6 hour baby who is jaundiced. Upon history, you find that the ethnic origin of the baby is Anglo-Saxon and that there is some history of ‘blood problems’ in the family. You are told by the consultant that a blood film will confirm the diagnosis.
What is this and what owuld you find on blood film?
Spherocytosis is more common in white ethnic groups and the classic blood film picture is of round spherical red blood cells.
On a routine GP checkup, the doctor notes that a 3 week old baby is jaundiced. The mother complains that his urine constantly stains his clothes a dark colour and that his stools are an unusual colour and has a strong odour. A liver biopsy is needed to confirm the diagnosis.
What is this?
Biliary atresia is a potentially fatal condition if not picked up early. It presents with conjugated jaundice after day 14 of life and requires a liver biopsy before urgent surgery (where a final diagnosis is made based on intraoperative cholangiography). Choledochal cysts can usually be diagnosed on ultrasound and do not require a liver biopsy.
A 15 year old girl complains of severe throat pain and lethargy. On examination, you find petechiae on her palate and cervical lymphadenopathy.
What does this girl have?
EBV
Apparently petichae are a classical finding
An 11 year old boy suffers from disabling runny noses during springtime and the summer.
What should you give him?
What shouldn’t you give him?
Intranasal corticosteroids are first-line for allergic rhinitis.
INCS have been shown to be superior to antihistamines in controlling nasal symptoms of AR.
Nasal decongestant sprays are not recommended due to the potential long-term effect of rhinitis medicamentosa.
Other effective therapies also need to be used with care. In cases of severe nasal blockage, intranasal decongestants can be used for 2–3 days to improve access to the nasal mucosa for INCS, but overuse of these can result in rhinitis medicamentosa.
A one-year old boy is brought to ED after experiencing a seizure at home. On examination, he has a temperature of 40oC. He is admitted to hospital, where the team note that he develops a maculopapular rash on his neck as his fever subsides.
Roseola infantum
“Fever subsides –> rash”
A very common cause of fever
Strep agelcactiae = what on microscopy?
Neisseria meningidites = what on microscopy?
Gram +ve cocci
Gram -ve diplococci
What virus causes hand, foot and mouth disease?
Cocksakie A
A fifteen-year-old boy is brought to the GP, complaining of sudden onset of fever and headache. He is crying, complaining of severe pain in his muscles and joints, as well as behind his eye. He recently returned from a family holiday to Cambodia and Laos. His FBE shows a leukopenia and thrombocytopenia.
What is this?
Dengue fever – also known as ‘breakbone’ fever – usually presents with sudden onset fever, headache, retro-orbital pain, arthralgias and myalgias. Leukopenia and thrombocytopenia are common findings on FBE. It is reported to be excruciatingly painful.
Describe the classification of burns according to the RCH?
Surface:
Superficial – dry, minor blisters, erythema
Superficial dermal – moist, reddened with broken blisters
Deep dermal – moist white slough, red mottled
Full thickness – dry, charred whitish
CRT:
Superficial, superficial dermal – brisk
Deep dermal – sluggish
Full thickness – absent
Pain:
Superficial, superficial dermal – painful
Deep dermal, full thickness – painless
What is the most important component of neonatal resus?
Opposite to adult resuscitation: ventilation is more important than chest compressions, but both may need to be performed.
What is the name for the onset of female breast development?
Thelarche
What is the name for the onset of androgen-dependent body changes such as growth of axillary and pubic hair, body odor, and acne
adrenarche
What is adrenarche?
the onset of androgen-dependent body changes such as growth of axillary and pubic hair, body odor, and acne
What is thelarche?
The onset of female breast development
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 (antenatally or posnatally)
- 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 is the rule about brain tumors in children?
What is the most common type of brain tumor in a kid?
Almost always are primary
60% are infratentorial (most are supratentorial in adults)
Most common type = (cerebellar) astrocytoma
What is the keyhole sign?
An ultrasonographic sign showing PUV
When do you measure APGARs?
1 minute
5 minutes
(Maybe again at 10 minutes and five minutely intervals after that)
How do you grade VUR?
Grade 1: reflux limited to ureter
Grade 2: reflux up to the renal pelvis
Grade 3: mild dilatation of ureter and pelvicalyceal system
Grade 4: tortuous ureter with moderate dilatation, blunting of fornices but preserved papillary impressions
Grade 5: Tortuous ureter with severe dilatation of ureter and pelvicalyceal system, loss of fornices and papillary impressions
What is the eponymous name of an innocent murmur?
What is the main DDx?
What should you do if you are a GP and you note an innocent murmur when a child is sick?
Soft
Systolic
Short
Sounds (S1 & S2) normal - THIS IS THE MAIN DDX FROM ASD
Symptomless
Special tests normal (X-ray, ECG)
Standing/ Sitting (vary with position)
The main DDX is ASD
Get the child to come back when they’re well, and make sure the murmur is not still there
When is posterior urethral valve usually diagnosed and what is the clinical presentation?
Clinical presentation depends on the severity of obstruction.
Severe obstruction
- diagnosis is usually made antenatally
- Potters Sequence
- Oligohydramnios
Less severe cases
- the diagnosis is often not apparent until early infancy
- Weak flow / stream
- Recurrent UTIs
What is a MCUG?
How is it performed?
When should you do it?
What can it help you DDx?
Micturating Cysto Urethro Gram
Inject contrast into bladder through the urethra.
In those who can’t urinate on demand. Also note that it is invase and unpleasant, and gives a high dose of radiation.
Can visualise bladder and urethral anatomy. Can diagnose Vesicouretertic reflux, Posterior urtheral valve and obstruction (pelviureteric junction obstrutcion, vesicoureteric junction obstruction)
What ultrasonographic sign is pathagnomonic of PUV?
Keyhole sign
What do you use to identify VUR?
If can urinate on demand: MAG 3 renogram (put radioisotope in blood)
If can’t urinate on demand: MCUG (put contrast into bladder through urethra)
what infection acquired in NVD can cause neonatal conjunctivitis & pneumonia?
Chlamydia
Which infection only causes vaginal discharge and is not routinely screened for but increases the risk of miscarriage and preterm labour?
Bacterial vaginosis
What is the management of HSP?
Basics
Joint pain / abdominal pain – paracetamol and bed rest (not NSAIDs due to renal risk).
- NB. There is some evidence that steroids may improve abdominal pain.
Place and person
Refer for surgical review if possible surgical requirement – intussusception, testicular torsion, bowel perfiration
Investigate and confirm diagnosis
Monitor BP
Monitor urine dipstick and urine microscopy
Monitor UEC?
Non-invasive management
Rest (joint pain)
Definitive management
Supportive care and frequent monitoring (including BP and urine dipstick)
- HSP nephritis (IgA nephropathy) can occur at the time of HSP, or 6 weeks – 6 months later. Continue to screen for this time.
Long term
The use of prednisolone has not been shown to make clinically important improvements in the rate of long-term renal complications – this was recently removed from the RCH guidelines!
Tongue atrophy and fasciculations
Paradoxical breathing pattern
Severe proximal muscle weakness
Absent tendon reflexes
Diagnosis?
Spinal Muscular Atrophy Type 1
Ataxia
Weakened Immune System
Increased risk of cancer
= diagnosis?
ataxia telangiectasia
What are the features of ataxia telangiectasia?
Ataxia
Weakened immune system
Increased risk of cancer
What are the features of spinal muscle atrophy type one?
Tongue fasciculations
Absent deep tendon reflexes
Severe proximal muscle weakness
paradoxical breathing pattern
What is involved in an anti body screen in a new diagnosis of T1DM?
islet cell antibodies
insulin antibodies
GAD (confirm T1DM)
IgA level
antiendomyseal
anti-gliadin
tissue transglutaminase antibodies
TFTs
How does the newborn hearing screen work?
Ears are covered, connected to the earphones, emit a series of soft ‘clicking’ sounds.
There are 3 sensor tabs that are placed on the baby’s neck, shoulder and forehead that measure auditory nerve (8th nerve) activity in response to the sound played.
What are the three possible results of a newborn hearing screen?
*Pass
*Repeat – there was not a clear response to sound on the first screen. Another hearing screen will be arranged.
*Refer – a clear response to sound was not recorded during two hearing screens. Further hearing testing is recommended.
What further hearing testing can be organised?
Behavioural Tests
- Behavioural observation audiometry (BOA)
- Visual reinforcement orientation audiometry (VROA)
- Play audiometry
Electro-physiological Tests
- Oto-acoustic emission testing (OAE)
- Brainstem evoked response audiometry (BERA)
- Electro-cochleography (EcoG)
- Tympanometry and acoustic reflex
Jenny is 5 years old. She has started school this year. Her teacher has expressed concern to her parents about her hearing, as she doesn’t seem to be listening at school.
What are your DDx?
Hearing
Behavioural
Oppositional defiant disorder
Conduct disorder
ADHD
Autism Spectrum Disorder
Intellectual Disability
How do you tell the difference between sensorineural and conductive hearing loss on an audiometry curve?
Same curve for bone and air conduction = Sensorineural hearing loss
Different curve = conductive hearing loss
What is the difference between conduct disorder and oppositional defiant disorder?
Unlike children with conduct disorder, children with oppositional defiant disorder are not aggressive towards people or animals, do not destroy property, and do not show a pattern of theft or deceit
What is normal hearing as represented on an audiogram?
Hearing at 0-20dB at all frequencies for both bone and air conduction
Describe how right, left, bone and air conuction are represented on an audiogram?
Right = Red = Circle
Left = Blue = Cross
What are the systems questions used in DKA?
Causes
- Recent infection / stress / adherence to insulin
Symptoms
Think: DKA
- D - polyuria, polydipsia, eneuresis, LOW
- K - abdominal pain & nausea
- A - increased respiratory rate
Complications
- Recurrent infections
- Recurrent hypos
- Neurological status
What are trhe investigations required in DKA?
Bedside Tests
- Insert urinary catheter to monitor urine output
- Glucose / ketones finger prick
- Urine disptick if suspect infection
Labratory Tests
- Serum gluocse and ketones?
- UEC
- VBG - especially potassium
- Urine MC&S if suspect infection
Secondary Investigations
- Septic screen if suspect infection
- C peptide if overweight and suspect T2DM
- If first presentation - insulin antibodies, GAD antibodies, coeliac screen, TFTs
What investigations should you order in a first presentation of T1DM?
insulin antibodies
GAD antibodes
Coeliac screen
TFTs
What are the signs of dehydration?
Genral appearance
- neurological status (GCS, flat / floppy)
Vitals
- Tachypnoeic
- Taccycardic
- Hypotensive
Hands
- Cold peripheries
- Mottled skin
Head & Chest
- Sunken fontanelles
- Dry mucous mebranes
- Central capillary refill
- Sunken eyes
- Reduced skin turgor
Fluid balance
- urine output
- wet nappies
- crying tears
What are the differential diagnoses of DKA?
Other causes of hyperglycaemia
- T2DM in overweight children
- transient hyperglycaemia when sick
D
- Polyuria / polydipsia - UTI
K
- abdominal pain & vomiting - gastroenteritis / appendicitis
A
- Kussmauls breathing - pneumonia
How do you assess degree of dehydration, and to what % of body weight does this corelate?
What do you have to be careful about when making this assessment in DKA? Therefore, do these children always require a fluid bolus?
None/Mild (
- no clinical signs
Moderate (4-7%):
- easily detectable dehydration eg. reduced skin turgor, poor capillary return
Severe(>7%):
- poor perfusion, rapid pulse, reduced blood pressure i.e. shock
Not all patients in DKA require fluid boluses. Remember acidosis itself results in poor peripheral perfusion and confounds accurate assessment of dehydration. Peripheral perfusion will improve with correction of the acidosis (with insulin).
At what rate should one replace the fluid deficit in DKA?
Quite slowly!
Look up RCH guidelines.
Not as quick as you would replace fluid in a case of gastroenteritis.
What is the management of DKA?
- Resuss
- intubate if GCS
- bolus fluid (NaCl) if severe dehydration
- Fluids
- 0.9% NaCl
- 5% dextrose when BGL drops below 12 - 15
- K+ when drops below 5.5
- Insulin
- 50U act rapid
What fluids do you administer in DKA?
- 0.9% NaCl administered slowly
- Add 5% dextrose when BGL drops to 12-15
- Add K+ when level drops below 5.5 (only if not anuric)
What is the criteria for a diagnosis of T1DM?
What is the criteria for diagnosis of DKA?
If they don’t meet this criteria, how can they be managed?
To diagnose T1DM random BGL is > 11
The biochemical criteria for DKA are:
- Venous pH
- Presence of blood or urinary ketones
If ketones are negative, or the pH is normal in the presence of ketones, patients can be managed with subcutaneous (s.c.) insulin
How should you investigate suspected T1DM in a child in whom you don’t suspect DKA / looks too well / in a GP setting rather than ED?
- Random BGL > 11
- Ketones
- If >0.6 assess VBG
- If acidotic = DKA
- If >0.6 assess VBG
- Sedcondary Ix [if GP would refer to apediatrician]
- insulin antibodies
- GAD antibodies
- Coeliac screen
- TFTs
- If overweight
- C peptide
- LFTs
- Lipid profile
What is your initial management of a child with T1DM who is not in DKA but mildly unwell?
0.25U/kg of S.C. fast acting insulin
Half dose if
What dosage of insulin is required per day in either regimen?
i.e. what is the total daily dose?
1 unit / kg / day
What are the two types of insulin regimens?
- Premixed regimen / bd
- Basal bolus regimen / MDI / tds
What insulin is used in the bd / premixed regimen?
Long acting: Levemir (Detemir)
Short acting: Novorapid (Aspart)
What insulin is used in the tds / MDI / basal bolus regimen?
Long acting: Lantus (Glargine)
Short acting: Novorapid (Aspart)
How do you calculate the bd insulin regimen?
Give 2/3 of total insulin in the morning
- Of which 2/3 is long acting
- Of which 1/3 is short acting
Give 1/3 of total insulin at night
- Of which 2/3 is long acting
- Of which 1/3 is short acting
how do you calculate the tds insulin regimen?
Give 40% of total insulin as lantus (glargine) at night
- Will peak at 11 hours for breakfast time
Give tds novorapid (aspart) as 20% of total insulin with each meal
when would you favour a bd regimen over a tds regimen?
Chosen for younger children, usually. Who can’t check sugar levels / administer insulin at school
- This one can be administered before and after school.
- But have to be more rigid in terms of timing of eating and having insulin at the same time every day.
when would you favour a tds insulin regimen?
This one requires the child to check BGLs and be able to give insulin at lunchtime at school, independently.
Therefore, are usually a bit older.
Technically better, because having novorapid more frequently
What are the calculations for maintenance fluids?
4: 2:1 mls / kg / hour
100: 50:20 mls / kg / day
How do you classify the severity of an asthma attack?
WOB
Mental status
HR
Ability to talk in sentences
what type of fluid do you give for ressus?
0.9% NS
What type of fluid do you give for deficit and maintenance fluid?
If suspect normal Na+ and K+
0.45% NS + 5% dextrose
If hyponatraemic (eg. pneumonia, SIADH etc)
0.9% NS + 5% dextrose
at what severity of asthma attack do you administer atrovent / ipatropium bromide?
how much do you give in victoria?
severe asthma attack only
8 puffs every 20 minutes for one hour if > 12 yo
4 puffs every 20 minutes for one hour if
What are the DDx of petichiae in a child?
Sepsis (meningococcal)
Henoch-Schonlein Purpura / Haemolytic uraemic syndrome
Idiopathic Thrombocytopenic Purpura (ITP)
Events (non-accidental or accidental)
Leukaemia
Disseminated intravascular coagulation (usually in the context of severe illness)
What investigations are required for haematological cancers?
FBE
Blood film
BMAT + immunophenotyping
How might you differentiate lymphoma and leukaemia, according to Rupert Hines?
A big spleen favours leukaemia, while
lymphadenopathy favours lymphoma
A) Isolated thrombocytopaenia = ?
B) rasied WCC but anaemia and thrombocytopaenia = ?
C) leukopaenia, anaemia, thrombocytopaenia = ?
A) ITP
B) ALL / AML
C) Aplastic anaemia
Which tumour ariseas from soft tissue and connective tissue, is rare in children but arises in the nasopharynx!
Rhabdomyosarcoma
What are the causes of paediatric vomiting?
Food allergy
Atresia (often duodenal)
Meconium Ileus
Intusscessption
NEC
Eosinophilic Oesophagitis
Hirshbrungs
Imperforate Anus
Pyloric Stenosis
GOR / GORD
Appendicitis & strangulated inguinal hernia
Intestinal Malrotation
Tracheo-Oesophageal Fistula
What are the overall causes of paediatric vomiting?
Infectious
- Gastro
- Pneumonia
- Pertussis
- Meningitis
Endocrinology
- DKA
- Errors of inborn metabolism
Neurological
- Increased ICP
- Meningitis
Gastroenterology
- FAMINEHIPGAIT
What are the causes of diarrhoea in children?
TIP MIT
Toddler’s Diarrhoea (undigested food)
Infectious – Gastro
Post-Gastroenteritis syndrome (a temporary lactose intolerance)
Malabsorption (Coeliac, CF)
IBD
Thyroid
When does GOR become GORD?
- Nasopharyngeal issues eg. sinusitis
- Oesophagitis
- Oesophageal mediated respiratory reflexes
- Apneas
- Stridor
- Upper airway issues eg. laryngitis
- Lower airway issues eg. aspiration pneumonia, asthma
- Oral aversion to feeds
When do you vaccinate premature babies?
Hep B vaccine given a week after birth, unless before 32 weeks (in which case give at 32 weeks) Future vaccines should not be adjusted for prematurity and given according to chronological age
When can premature babies start breastfeeding?
Extremely premature babies need parenteral nutrition, while less premature need nasogastric until sucking-swallowing coordination developed (@ 36-37 weeks).
Usually add pentavite and Fe supplementation to feed
When do you vaccinate premature babies?
Hep B vaccine given a week after birth, unless before 32 weeks (in which case give at 32 weeks)
Future vaccines should not be adjusted for prematurity and given according to chronological age
What kinds of fractures set of immediate alarm bells for you for child abuse?
Any fracture in a child
Metaphyseal fractures (more often than not related to abuse)
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
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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?
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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?
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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.
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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 

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Clinical presentation
Depends on the specific deficiency and the cause - may present with shock and hyperkalemia if not suspected. Can be divided into:
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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 

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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 

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Simple Virilizing 21-Hydroxylase Deficiency
Virilization in girls but not boys 

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11-Hydroxylase Deficiency 

Sexual ambiguity in females

May have insidious onset; may present with hirsutism, occasionally hypertension 

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17-Hydroxylase Deficiency 

Sexual ambiguity in males, hypertension
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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

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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 

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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.
What are the risks to both mum and bubs of twin pregnancies?
Risks to fetuses
- PROM and Pre-term birth (PTB)
- PTB is the biggest cause of multi fetal M&M
- PTB at 24-32 weeks affects:
- 1% of singletons
- 5% DC twins
- 10% MC twins
- Cord Prolapse
- Polyhydramnios, PPROM and malpresentation can lead to cord prolapse
- Antepartum and post partum haemorrhage
- Congenital malformation
- Twin-twin transfusion syndrome (TTTS)
- 10-15% of all monochorionic gestations
- ​If untreated, severe early-onset TTTS is associated with a perinatal mortality rate of over 90%.
Maternal complications
- Hyperemesis gravidarum
- Anemia (greater haemodilution)
- Iron and folic acid supplementation recommended
- Gestational DiabetesÂ
- Antepartum and post partum hemorrhage
- Larger placental surface area, uterine over distension,
- Higher rates of operative birth
- Postnatal depression
- Maternal mortality — Two fold higher in twin pregnancies.
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 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 do you know about neuroblastoma?
- Most commonly arises from the adrenal glands
- Variable biology: may spontaneously regress or be chemo-refratory
- 75% metastatic disease at diagnosis
- May infiltrate abdomen, thorax and spine. Lymph nodes and BM are common metastatic sites
- May have interesting paraneoplastic effects:
- Opsomyoclonus (dancing eyes, dancing feet syndrome)
- Excessive catecholamines: flushing, tachycardia, HTN
- VIP secretion — severe refractory diarrhea with FTT and low K+
- Diagnosis
- Urinary cathecholamines are raised in 90%
- Biopsy for tissue diagnosis and risk stratification
- CT/MRI
- BMAT
- MIBG (radioisotope) scan can show areas of cathecholamine synthesis
- Treatment
- Surgery for low risk disease. More intensive chemo-/radio- therapy for worse disease.
At what point in gestation is hyperglycaemia most dangerous? Why is this?
The first trimester
Fetuses don’t make their own insulin until 14 weeks so hyperglycaemia before this is teratogenic
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.
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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.
What type of fracture does a FOOSH cause in a kid under 10 versus an adult?
In an adult a FOOSH = radial fracture. In a kid FOOSH = suprcondylar fracture
What type of childhood cancer is associated with familial adenomatosis polyposis?
Hepatoblastomaa
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
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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.
A child presents with diarrhoea, short stature, weight loss and eczema. What is the diagnosis and what other symptoms may they have/develop?
Shwachman-Diamond syndrome –> a rare autosomal recessive disorder
Recurrent infection is common due to neutropenia. Hearing loss may occur secondary to recurrent otitis media. Symptoms of bone marrow supression Â
After cystic fibrosis (CF), it is the second most common cause of exocrine pancreatic insufficiency in children.
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
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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).
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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.Â
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 mucosaÂ
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)Â 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.
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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
A woman insists on drinking alcohol in pregnancy, you have been asked to educate her about fetal alcohol syndrome. What complications/features of FAS do you inform her about?
- IUGR
- Facial dysmorphisms (see photo)
- Global cognitive or intellectual deficits representing multiple domains of deficit
- Social problems
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.
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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.Â
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.
You are treating a 7yo child in ED for severe asthma. The nurse assisting you offers to insert an IV line for IV steroids, what do you tell her?
There is no evidence that IV steroids are any more effective than PO steroids for asthma exacerbations.
Their role is just for kids who can’t tolerate PO meds (like if they’re vomiting).
When is bronchiolitis most severe?
Bronchiolitis is always worst on day 3, counting day 1 as the first day of respiratory distress (not day 1 of the coryza)
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 are the causes of recurrent UTI in children?
- Idiopathic
- Vesicoureteric reflux with or without radiographically evident structural cause
- Renal tract abnormality, eg: posterior urethral valves
- Poor hygiene
- Neurogenic bladder –>Â incomplete emptying
- Voiding dysfunction/constipation
What investigations would you order for a child with a UTI?
For infants and children aged 6Â months and older with first-time UTI that responds to treatment, routine ultrasound is not recommended unless the infant or child has atypical UTI
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- Children
- Older children do not require and ultrasound post first UTI, but should have a renal ultrasound for recurrent UTI.Â
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?
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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.Â
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/DSMÂ style)
Buzz words/presentation
- Ash leaf spots (hypopigmented)
- Periungal fibromas
- Shagreen patches
- Facial angiofibromas
- Forehead fibrous plaques
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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?
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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
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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.Â
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 postureâ€
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.
What pathogen causes hand, food and mouth disease?
coxsackie virus A
Describe the progression of the Measles rash….
The measles rash starts as spots, which then begin to blend together. The rash begins around the ears and on the forehead at the hairline. Over three days, it spreads sequentially to cover the face, neck, trunk, arms, buttocks, and legs.
What are the potential complications of Varicella (chickenpox)?
Chickenpox is generally a benign and self limiting disease but may be associated with complications including:
- bacterial superinfection (particularly group A beta haemolytic streptococcus and Staph aureus),
- pneumonia,
- encephalitis,
- cerebellitis,
- hepatitis,
- arthritis and
- Reye syndrome.
A child has been diagnosed with chickenpox. His mother asks, “is he contagious?” What do you say?
The patient is infectious from one to two days before the onset of the rash until the lesions have fully crusted over.
Children must be excluded from school until fully recovered (all lesions crusted over) or at least one week after the eruption first appears.
What is the manaegement of varicella in a child?
In immunocompetent children no specific therapy is indicated.
Symptomatic treatment consists of Calamine lotion, cool compresses, possibly oral antihistamines at night to improve sleep. Keeping the skin cool may reduce the number of lesions. Scratching increases the risk of secondary bacterial infection - cut the child’s nails short at the first sign of the disease.
Avoid aspirin –> Reyes syndrome
Aciclovir is indicated in children with impaired immunity
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.Â
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.
A child presents with constipation. What physical examinations must you perform?
Height and weight — failure to thrive
Abdomen - palpable faeces
Spine — deep sacral cleft or tuft of hair
Neurology - assessment of lower limbs.
Anal area — visually examine for fissures. Internal examination not required.
What is the mainstay treatment of idiopathic constipation of childhood?
Mainstay of Tx of are osmotic laxatives –> osmolax.
Very safe. Other option is lactulose with is less good.
What is a normal birth LENGTH for a newborn?
50cm
What is a normal HEAD CIRCUMFERENCE at birth?
35cm
What is a ballbark normal feed volume for a newborn?
150ml/kg
What is a normal weight gain for a newborn? What about for premature babies?
30g per day.
For premmies 15-20g/day
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.
What are the MOST COMMON causes of delayed fontanelle closure?
Vit D deficiency and hypothyroidism
How far apart should the eyes be set in an infant?
Eyes should be one eye length apart
What colour is bile stained vomit?
Green
A boy presents with an inguinal hernia.
Based on their current age, how quickly do they need surgery?
- Under 6 weeks ->Â 2 days
- Under 6 months ->Â 2 weeks
- Under 6 years ->Â 2 months
What cardiac anomalies are associated with fetal alcohol syndrome?
ASD, VSD, TOF
What cardiac anomaly is associated with Turners?
AS and coarctation
What cardiac anomalies are associated with Noonan syndrome?
HOCM, ASD, pulmonary stenosis
What are the various classic presentations of Acute Lymphoblastic Leukaemia?
Most common in 2-4 year olds
Clinical presentation usually related to marrow infiltration or occasionally mass effect, certain subtypes more likely to manifest in certain ways, e.g:
BPrecursor ALL: extensive infiltration of marrow and lymphoid organs (bone pain, bleeding, bruising, neutropenia, lymphadenopathy and hepato- splenomegaly)
Mature-B ALL: extramedullary masses in abdomen or head/neck , CNS involvement more common than in other types
T-cell ALL: bulky mediastinal mass,
What types of Lymphoma occur in children, and at what ages?
How do they present?
NHL more common in children
NHL is on a continuum with some types of ALL
T-cell malignancies can present as either an ALL or NHL, and mediastinal mass is a common feature to both
Mature B-cell types tend to present more as NHL, with masses in the abdomen, and head/neck region
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HL more common in adolescent and younger adults
B symptoms are less common
Often a neck / upper body mass, although can occur any
Very good overall survival rates in adolescence, even with disseminated disease
Ann Arbour staging system
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.
What is the classic presentation and management of SVT in children?
Presentation:
- Paroxysmal episodes of palpitations
- Rapid heart rate = poor cardiac output = hypotension which often causes:
- Chest pain
- Fatigue
- Lightheadedness
- (neonates with these symptoms may just be irritable, poor feeding, drowsy etc — difficult to Dx)
- If SVT is prolonged or left undiagnosed for a long period it may cause CCF
Mx:
Confirm with Holter monitor
Acutely:
- Assess for haemodynamic compromise, if yes:
- Chemical cardioversion: adenosine, verapamil
- DC cardioversion
Long term:
- Beta-blocker (propranolol - infants, atenolol —older) or Flecainide
- If refractory to medical therapy then consider RF Ablation, relatively dangerous procedure though given most SVT relatively harmless.
When can premature babies start breastfeeding?
Extremely premature babies need parenteral nutrition, while less premature need nasogastric until sucking-swallowing coordination developed (@ 36-37 weeks).
Usually add pentavite and Fe supplementation to feed
When do you vaccinate premature babies?
Hep B vaccine given a week after birth, unless before 32 weeks (in which case give at 32 weeks)
Future vaccines should not be adjusted for prematurity and given according to chronological age
What kinds of fractures set of immediate alarm bells for you for child abuse?
Any fracture in a child
Metaphyseal fractures (more often than not related to abuse)
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
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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?
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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?
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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.
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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 

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Clinical presentation
Depends on the specific deficiency and the cause - may present with shock and hyperkalemia if not suspected. Can be divided into:
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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 

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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 

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Simple Virilizing 21-Hydroxylase Deficiency
Virilization in girls but not boys 

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11-Hydroxylase Deficiency 

Sexual ambiguity in females

May have insidious onset; may present with hirsutism, occasionally hypertension 

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17-Hydroxylase Deficiency 

Sexual ambiguity in males, hypertension
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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

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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 

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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.
What are the risks to both mum and bubs of twin pregnancies?
Risks to fetuses
- PROM and Pre-term birth (PTB)
- PTB is the biggest cause of multi fetal M&M
- PTB at 24-32 weeks affects:
- 1% of singletons
- 5% DC twins
- 10% MC twins
- Cord Prolapse
- Polyhydramnios, PPROM and malpresentation can lead to cord prolapse
- Antepartum and post partum haemorrhage
- Congenital malformation
- Twin-twin transfusion syndrome (TTTS)
- 10-15% of all monochorionic gestations
- ​If untreated, severe early-onset TTTS is associated with a perinatal mortality rate of over 90%.
Maternal complications
- Hyperemesis gravidarum
- Anemia (greater haemodilution)
- Iron and folic acid supplementation recommended
- Gestational DiabetesÂ
- Antepartum and post partum hemorrhage
- Larger placental surface area, uterine over distension,
- Higher rates of operative birth
- Postnatal depression
- Maternal mortality — Two fold higher in twin pregnancies.
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 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 do you know about neuroblastoma?
- Most commonly arises from the adrenal glands
- Variable biology: may spontaneously regress or be chemo-refratory
- 75% metastatic disease at diagnosis
- May infiltrate abdomen, thorax and spine. Lymph nodes and BM are common metastatic sites
- May have interesting paraneoplastic effects:
- Opsomyoclonus (dancing eyes, dancing feet syndrome)
- Excessive catecholamines: flushing, tachycardia, HTN
- VIP secretion — severe refractory diarrhea with FTT and low K+
- Diagnosis
- Urinary cathecholamines are raised in 90%
- Biopsy for tissue diagnosis and risk stratification
- CT/MRI
- BMAT
- MIBG (radioisotope) scan can show areas of cathecholamine synthesis
- Treatment
- Surgery for low risk disease. More intensive chemo-/radio- therapy for worse disease.
At what point in gestation is hyperglycaemia most dangerous? Why is this?
The first trimester
Fetuses don’t make their own insulin until 14 weeks so hyperglycaemia before this is teratogenic
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.
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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.
What type of fracture does a FOOSH cause in a kid under 10 versus an adult?
In an adult a FOOSH = radial fracture. In a kid FOOSH = suprcondylar fracture
What type of childhood cancer is associated with familial adenomatosis polyposis?
Hepatoblastomaa
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
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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.
A child presents with diarrhoea, short stature, weight loss and eczema. What is the diagnosis and what other symptoms may they have/develop?
Shwachman-Diamond syndrome –> a rare autosomal recessive disorder
Recurrent infection is common due to neutropenia. Hearing loss may occur secondary to recurrent otitis media. Symptoms of bone marrow supression Â
After cystic fibrosis (CF), it is the second most common cause of exocrine pancreatic insufficiency in children.
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
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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).
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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.Â
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 mucosaÂ
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)Â 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.
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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
A woman insists on drinking alcohol in pregnancy, you have been asked to educate her about fetal alcohol syndrome. What complications/features of FAS do you inform her about?
- IUGR
- Facial dysmorphisms (see photo)
- Global cognitive or intellectual deficits representing multiple domains of deficit
- Social problems
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.
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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.Â
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.
You are treating a 7yo child in ED for severe asthma. The nurse assisting you offers to insert an IV line for IV steroids, what do you tell her?
There is no evidence that IV steroids are any more effective than PO steroids for asthma exacerbations.
Their role is just for kids who can’t tolerate PO meds (like if they’re vomiting).
When is bronchiolitis most severe?
Bronchiolitis is always worst on day 3, counting day 1 as the first day of respiratory distress (not day 1 of the coryza)
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 are the causes of recurrent UTI in children?
- Idiopathic
- Vesicoureteric reflux with or without radiographically evident structural cause
- Renal tract abnormality, eg: posterior urethral valves
- Poor hygiene
- Neurogenic bladder –>Â incomplete emptying
- Voiding dysfunction/constipation
What investigations would you order for a child with a UTI?
For infants and children aged 6Â months and older with first-time UTI that responds to treatment, routine ultrasound is not recommended unless the infant or child has atypical UTI
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- Children
- Older children do not require and ultrasound post first UTI, but should have a renal ultrasound for recurrent UTI.Â
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?
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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.Â
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/DSMÂ style)
Buzz words/presentation
- Ash leaf spots (hypopigmented)
- Periungal fibromas
- Shagreen patches
- Facial angiofibromas
- Forehead fibrous plaques
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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?
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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
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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.Â
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 postureâ€
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.
What pathogen causes hand, food and mouth disease?
coxsackie virus A
Describe the progression of the Measles rash….
The measles rash starts as spots, which then begin to blend together. The rash begins around the ears and on the forehead at the hairline. Over three days, it spreads sequentially to cover the face, neck, trunk, arms, buttocks, and legs.
What are the potential complications of Varicella (chickenpox)?
Chickenpox is generally a benign and self limiting disease but may be associated with complications including:
- bacterial superinfection (particularly group A beta haemolytic streptococcus and Staph aureus),
- pneumonia,
- encephalitis,
- cerebellitis,
- hepatitis,
- arthritis and
- Reye syndrome.
A child has been diagnosed with chickenpox. His mother asks, “is he contagious?” What do you say?
The patient is infectious from one to two days before the onset of the rash until the lesions have fully crusted over.
Children must be excluded from school until fully recovered (all lesions crusted over) or at least one week after the eruption first appears.
What is the manaegement of varicella in a child?
In immunocompetent children no specific therapy is indicated.
Symptomatic treatment consists of Calamine lotion, cool compresses, possibly oral antihistamines at night to improve sleep. Keeping the skin cool may reduce the number of lesions. Scratching increases the risk of secondary bacterial infection - cut the child’s nails short at the first sign of the disease.
Avoid aspirin –> Reyes syndrome
Aciclovir is indicated in children with impaired immunity
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.Â
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.
A child presents with constipation. What physical examinations must you perform?
Height and weight — failure to thrive
Abdomen - palpable faeces
Spine — deep sacral cleft or tuft of hair
Neurology - assessment of lower limbs.
Anal area — visually examine for fissures. Internal examination not required.
What is the mainstay treatment of idiopathic constipation of childhood?
Mainstay of Tx of are osmotic laxatives –> osmolax.
Very safe. Other option is lactulose with is less good.
What is a normal birth LENGTH for a newborn?
50cm
What is a normal HEAD CIRCUMFERENCE at birth?
35cm
What is a ballbark normal feed volume for a newborn?
150ml/kg
What is a normal weight gain for a newborn? What about for premature babies?
30g per day.
For premmies 15-20g/day
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.
What are the MOST COMMON causes of delayed fontanelle closure?
Vit D deficiency and hypothyroidism
How far apart should the eyes be set in an infant?
Eyes should be one eye length apart
What colour is bile stained vomit?
Green
A boy presents with an inguinal hernia.
Based on their current age, how quickly do they need surgery?
- Under 6 weeks ->Â 2 days
- Under 6 months ->Â 2 weeks
- Under 6 years ->Â 2 months
What cardiac anomalies are associated with fetal alcohol syndrome?
ASD, VSD, TOF
What cardiac anomaly is associated with Turners?
AS and coarctation
What cardiac anomalies are associated with Noonan syndrome?
HOCM, ASD, pulmonary stenosis
What are the various classic presentations of Acute Lymphoblastic Leukaemia?
Most common in 2-4 year olds
Clinical presentation usually related to marrow infiltration or occasionally mass effect, certain subtypes more likely to manifest in certain ways, e.g:
BPrecursor ALL: extensive infiltration of marrow and lymphoid organs (bone pain, bleeding, bruising, neutropenia, lymphadenopathy and hepato- splenomegaly)
Mature-B ALL: extramedullary masses in abdomen or head/neck , CNS involvement more common than in other types
T-cell ALL: bulky mediastinal mass,
What types of Lymphoma occur in children, and at what ages?
How do they present?
NHL more common in children
NHL is on a continuum with some types of ALL
T-cell malignancies can present as either an ALL or NHL, and mediastinal mass is a common feature to both
Mature B-cell types tend to present more as NHL, with masses in the abdomen, and head/neck region
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HL more common in adolescent and younger adults
B symptoms are less common
Often a neck / upper body mass, although can occur any
Very good overall survival rates in adolescence, even with disseminated disease
Ann Arbour staging system
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.
What is the classic presentation and management of SVT in children?
Presentation:
- Paroxysmal episodes of palpitations
- Rapid heart rate = poor cardiac output = hypotension which often causes:
- Chest pain
- Fatigue
- Lightheadedness
- (neonates with these symptoms may just be irritable, poor feeding, drowsy etc — difficult to Dx)
- If SVT is prolonged or left undiagnosed for a long period it may cause CCF
Mx:
Confirm with Holter monitor
Acutely:
- Assess for haemodynamic compromise, if yes:
- Chemical cardioversion: adenosine, verapamil
- DC cardioversion
Long term:
- Beta-blocker (propranolol - infants, atenolol —older) or Flecainide
- If refractory to medical therapy then consider RF Ablation, relatively dangerous procedure though given most SVT relatively harmless.
When can premature babies start breastfeeding?
Extremely premature babies need parenteral nutrition, while less premature need nasogastric until sucking-swallowing coordination developed (@ 36-37 weeks).
Usually add pentavite and Fe supplementation to feed
When do you vaccinate premature babies?
Hep B vaccine given a week after birth, unless before 32 weeks (in which case give at 32 weeks)
Future vaccines should not be adjusted for prematurity and given according to chronological age
What kinds of fractures set of immediate alarm bells for you for child abuse?
Any fracture in a child
Metaphyseal fractures (more often than not related to abuse)
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
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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?
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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?
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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.
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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 

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Clinical presentation
Depends on the specific deficiency and the cause - may present with shock and hyperkalemia if not suspected. Can be divided into:
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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 

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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 

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Simple Virilizing 21-Hydroxylase Deficiency
Virilization in girls but not boys 

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11-Hydroxylase Deficiency 

Sexual ambiguity in females

May have insidious onset; may present with hirsutism, occasionally hypertension 

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17-Hydroxylase Deficiency 

Sexual ambiguity in males, hypertension
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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

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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 

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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.
What are the risks to both mum and bubs of twin pregnancies?
Risks to fetuses
- PROM and Pre-term birth (PTB)
- PTB is the biggest cause of multi fetal M&M
- PTB at 24-32 weeks affects:
- 1% of singletons
- 5% DC twins
- 10% MC twins
- Cord Prolapse
- Polyhydramnios, PPROM and malpresentation can lead to cord prolapse
- Antepartum and post partum haemorrhage
- Congenital malformation
- Twin-twin transfusion syndrome (TTTS)
- 10-15% of all monochorionic gestations
- ​If untreated, severe early-onset TTTS is associated with a perinatal mortality rate of over 90%.
Maternal complications
- Hyperemesis gravidarum
- Anemia (greater haemodilution)
- Iron and folic acid supplementation recommended
- Gestational DiabetesÂ
- Antepartum and post partum hemorrhage
- Larger placental surface area, uterine over distension,
- Higher rates of operative birth
- Postnatal depression
- Maternal mortality — Two fold higher in twin pregnancies.
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 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 do you know about neuroblastoma?
- Most commonly arises from the adrenal glands
- Variable biology: may spontaneously regress or be chemo-refratory
- 75% metastatic disease at diagnosis
- May infiltrate abdomen, thorax and spine. Lymph nodes and BM are common metastatic sites
- May have interesting paraneoplastic effects:
- Opsomyoclonus (dancing eyes, dancing feet syndrome)
- Excessive catecholamines: flushing, tachycardia, HTN
- VIP secretion — severe refractory diarrhea with FTT and low K+
- Diagnosis
- Urinary cathecholamines are raised in 90%
- Biopsy for tissue diagnosis and risk stratification
- CT/MRI
- BMAT
- MIBG (radioisotope) scan can show areas of cathecholamine synthesis
- Treatment
- Surgery for low risk disease. More intensive chemo-/radio- therapy for worse disease.
At what point in gestation is hyperglycaemia most dangerous? Why is this?
The first trimester
Fetuses don’t make their own insulin until 14 weeks so hyperglycaemia before this is teratogenic
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.
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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.
What type of fracture does a FOOSH cause in a kid under 10 versus an adult?
In an adult a FOOSH = radial fracture. In a kid FOOSH = suprcondylar fracture
What type of childhood cancer is associated with familial adenomatosis polyposis?
Hepatoblastomaa
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
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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.
A child presents with diarrhoea, short stature, weight loss and eczema. What is the diagnosis and what other symptoms may they have/develop?
Shwachman-Diamond syndrome –> a rare autosomal recessive disorder
Recurrent infection is common due to neutropenia. Hearing loss may occur secondary to recurrent otitis media. Symptoms of bone marrow supression Â
After cystic fibrosis (CF), it is the second most common cause of exocrine pancreatic insufficiency in children.
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
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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).
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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.Â
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 mucosaÂ
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)Â 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.
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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
A woman insists on drinking alcohol in pregnancy, you have been asked to educate her about fetal alcohol syndrome. What complications/features of FAS do you inform her about?
- IUGR
- Facial dysmorphisms (see photo)
- Global cognitive or intellectual deficits representing multiple domains of deficit
- Social problems
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.
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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.Â
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.
You are treating a 7yo child in ED for severe asthma. The nurse assisting you offers to insert an IV line for IV steroids, what do you tell her?
There is no evidence that IV steroids are any more effective than PO steroids for asthma exacerbations.
Their role is just for kids who can’t tolerate PO meds (like if they’re vomiting).
When is bronchiolitis most severe?
Bronchiolitis is always worst on day 3, counting day 1 as the first day of respiratory distress (not day 1 of the coryza)
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 are the causes of recurrent UTI in children?
- Idiopathic
- Vesicoureteric reflux with or without radiographically evident structural cause
- Renal tract abnormality, eg: posterior urethral valves
- Poor hygiene
- Neurogenic bladder –>Â incomplete emptying
- Voiding dysfunction/constipation
What investigations would you order for a child with a UTI?
For infants and children aged 6Â months and older with first-time UTI that responds to treatment, routine ultrasound is not recommended unless the infant or child has atypical UTI
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- Children
- Older children do not require and ultrasound post first UTI, but should have a renal ultrasound for recurrent UTI.Â
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?
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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.Â
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/DSMÂ style)
Buzz words/presentation
- Ash leaf spots (hypopigmented)
- Periungal fibromas
- Shagreen patches
- Facial angiofibromas
- Forehead fibrous plaques
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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?
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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
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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.Â
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 postureâ€
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.
What pathogen causes hand, food and mouth disease?
coxsackie virus A
Describe the progression of the Measles rash….
The measles rash starts as spots, which then begin to blend together. The rash begins around the ears and on the forehead at the hairline. Over three days, it spreads sequentially to cover the face, neck, trunk, arms, buttocks, and legs.
What are the potential complications of Varicella (chickenpox)?
Chickenpox is generally a benign and self limiting disease but may be associated with complications including:
- bacterial superinfection (particularly group A beta haemolytic streptococcus and Staph aureus),
- pneumonia,
- encephalitis,
- cerebellitis,
- hepatitis,
- arthritis and
- Reye syndrome.
A child has been diagnosed with chickenpox. His mother asks, “is he contagious?” What do you say?
The patient is infectious from one to two days before the onset of the rash until the lesions have fully crusted over.
Children must be excluded from school until fully recovered (all lesions crusted over) or at least one week after the eruption first appears.
What is the manaegement of varicella in a child?
In immunocompetent children no specific therapy is indicated.
Symptomatic treatment consists of Calamine lotion, cool compresses, possibly oral antihistamines at night to improve sleep. Keeping the skin cool may reduce the number of lesions. Scratching increases the risk of secondary bacterial infection - cut the child’s nails short at the first sign of the disease.
Avoid aspirin –> Reyes syndrome
Aciclovir is indicated in children with impaired immunity
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.Â
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.
A child presents with constipation. What physical examinations must you perform?
Height and weight — failure to thrive
Abdomen - palpable faeces
Spine — deep sacral cleft or tuft of hair
Neurology - assessment of lower limbs.
Anal area — visually examine for fissures. Internal examination not required.
What is the mainstay treatment of idiopathic constipation of childhood?
Mainstay of Tx of are osmotic laxatives –> osmolax.
Very safe. Other option is lactulose with is less good.
What is a normal birth LENGTH for a newborn?
50cm
What is a normal HEAD CIRCUMFERENCE at birth?
35cm
What is a ballbark normal feed volume for a newborn?
150ml/kg
What is a normal weight gain for a newborn? What about for premature babies?
30g per day.
For premmies 15-20g/day
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.
What are the MOST COMMON causes of delayed fontanelle closure?
Vit D deficiency and hypothyroidism
How far apart should the eyes be set in an infant?
Eyes should be one eye length apart
What colour is bile stained vomit?
Green
A boy presents with an inguinal hernia.
Based on their current age, how quickly do they need surgery?
- Under 6 weeks ->Â 2 days
- Under 6 months ->Â 2 weeks
- Under 6 years ->Â 2 months
What cardiac anomalies are associated with fetal alcohol syndrome?
ASD, VSD, TOF
What cardiac anomaly is associated with Turners?
AS and coarctation
What cardiac anomalies are associated with Noonan syndrome?
HOCM, ASD, pulmonary stenosis
What are the various classic presentations of Acute Lymphoblastic Leukaemia?
Most common in 2-4 year olds
Clinical presentation usually related to marrow infiltration or occasionally mass effect, certain subtypes more likely to manifest in certain ways, e.g:
BPrecursor ALL: extensive infiltration of marrow and lymphoid organs (bone pain, bleeding, bruising, neutropenia, lymphadenopathy and hepato- splenomegaly)
Mature-B ALL: extramedullary masses in abdomen or head/neck , CNS involvement more common than in other types
T-cell ALL: bulky mediastinal mass,
What types of Lymphoma occur in children, and at what ages?
How do they present?
NHL more common in children
NHL is on a continuum with some types of ALL
T-cell malignancies can present as either an ALL or NHL, and mediastinal mass is a common feature to both
Mature B-cell types tend to present more as NHL, with masses in the abdomen, and head/neck region
Â
HL more common in adolescent and younger adults
B symptoms are less common
Often a neck / upper body mass, although can occur any
Very good overall survival rates in adolescence, even with disseminated disease
Ann Arbour staging system
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.
What is the classic presentation and management of SVT in children?
Presentation:
- Paroxysmal episodes of palpitations
- Rapid heart rate = poor cardiac output = hypotension which often causes:
- Chest pain
- Fatigue
- Lightheadedness
- (neonates with these symptoms may just be irritable, poor feeding, drowsy etc — difficult to Dx)
- If SVT is prolonged or left undiagnosed for a long period it may cause CCF
Mx:
Confirm with Holter monitor
Acutely:
- Assess for haemodynamic compromise, if yes:
- Chemical cardioversion: adenosine, verapamil
- DC cardioversion
Long term:
- Beta-blocker (propranolol - infants, atenolol —older) or Flecainide
- If refractory to medical therapy then consider RF Ablation, relatively dangerous procedure though given most SVT relatively harmless.
What virus results in white spots on the oral mucosa?
Measels (Koplik’s Spots)
What else can a child present with, when they have measels, other than a rash & fever?
Conjunctivitis
How does a rash present in rubella?
Starts on the face and spreads cephalocaudadly
How and when does a rash present in Roseola infantum?
Starts AFTER the fever (usually lasts for 3 days) and appears on the trunk
What is the other word for roseola infantum?
exanthem subitum
What microorganism causes roseola infantum?
HHV-6
What is another name for infantile spasms
West syndrome
How do infantile spasms normally present?
What is their prognosis
Begin in 4 – 12 month year olds
sudden drawing up of his legs, flinging out of his arms and hunching of his shoulders and neck
1/20 mortality
Poor prognosis with developmental delay and long term serious epilepsy
- urgent neuro referral
What is the typical presentation of Wilm’s tumor?
Child under 5 yo
Asymptomatic abdominal mass found on routine examination + micrscopic haematuria found on FWT
What is the typical presentation of neuroblastoma?
Child
Abdominal mass + paraneoplastic effects
Opsomyoclonus (dancing eyes, dancing feet syndrome)
Excessive catecholamines: flushing, tachycardia, HTN
VIP secretion – severe refractory diarrhea with FTT and low K+
What is the genotype of turner’s syndrome?
45XO
when do newborn reflexes go away?
3-9 months (6 months)
At what age does a child usually crawl?
9 months
At what age does a child usually sit unsupported?
6 months
What the menmonic for milestones?
Walking?
(walk @ 1 year, crawls @ 9 months, sits unsupported @ 6 months)
Talking?
(Babble @ 6 months, Mama/Dada @ 9 months, first word @ 12 months)
Pointing?
= joint attention. Wave bye bye?
Holding?
(palmar grasp @ 6 months, pincer grip @ 9 months, immature pencil grip @ 12 months)
What is in the infarix hexa?
When is it given?
What is given with it?
Hepatitis B, haemophillus influenza B, Polio
Diptheria, Pertussis, Tetanus
Given at 2,4 and 6 months (Hep B also given at birth)
Given with pneumococcal and rotavirus
When is the MMR vaccine given
12 months
18 months
4 years
What microorganism causes croup?
parainfluenza virus
What microorganism causes bronchiolitis?
RSV
What microorganism causes epiglottitis?
Haemophillus influenzae type B
What is the management of epiglottitis?
Basics
Avoid interfering with child. O2 via mask if hypoxia.
Place and person
ED or ICU admission required stat!
Investigate and confirm diagnosis
N/A
Non-invasive management
N/A
Definitive management
Complete obstruction may occur in just a few hours. In general, nasotracheal intubation under anaesthesia is required. Arrange promptly.
Antibiotic therapy: Ceftriaxone 100 mg/kg (max 2 g) i.v. followed by 50 mg/kg (max 2 g) 24 h later.
Long term
Treatment of contacts
Rifampicin prophylaxis 20 mg/kg (max. 600 mg) p.o. daily for 4 days.
Prevention
HIb vaccination (at 2, 4 or 6 months)
post-tussive vomitting is associated with what?
whooping cough (bordatella pertussis)
What is the definitive management of perutssis?
What is prophylaxis (for household contacts and in general)?
Definitive management
- 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
Acellular pertussis is part of the immunization schedule
Initial protection
2, 4 and 6months
Booster
4 years
10-15 years
Parents or household contacts of newborns
what is the name of the rash affecting children in the first 3 months of life causing a thick, scaly, yellow rash on their scalp?
seborrheic dermatitis
which rash comes on usually after a viral illness, and is in a christmas-tree distribution on the trunk?
pityriasis rosea
what is seborrheic dermatitis?
a thick, scaly, yellow rash on a newborn’s scalp
What investigations are required when you suspect child abuse?
What are you looking for?
“Skeletal Survey” - look for multiple fractures of different ages
CT brain if see retinal haemorrhages
At what age is the guetherie / heel prick test performed?
48 - 72 hours old
how do you measure head circumference?
From the widest part of the head (occiput)
Take the measurement three times and select the largest measurement to the nearest 0.1cm
Describe the anatomy of the paediatric airway in regard to croup.
The narrowest portion of the paediatric airway is at the level of the cricoid / the subglottic space. It is funnel shaped.
This was contrasted to the adult airway, where the narrowest portion is the glottis and the airway is described as cylindrical.
What are the causes of a wheeze?
Concerning Airway Wall
Constrction
- Asthma
Compression
- Mediastinal mass
- Congenial heart disease eg. causing L-R shunt and causing engorgment of the pulmonary vasculature
Structure
- Bronchomalacia
- Tracheomalacia [this would cause stridor]
- Bronchopulmonary Dysplasia
Concerning Airway Lumen
Pus / Infection
- Bronchiolitis
- Viral Induced Wheeze / Asthma
- Pneumonia
- Petussis
- Croup (even though an URTI)
Gunk
- CF
Other
- FB
What is used for the prevention of bronchiolitis?
Palivzumab – is a monoclonal antibody to RSV given IM monthly. Use is limited by cost and the need for monthly injections - is therefore reserved for high risk infants.
There is no vaccine.
RSV is the most common cause of bronchioolitis, what is the most dangerous cause and why?
adenovirus - it causes bronchiolitis obliterans
What are some of the complications of bronchiolitis?
Increased WOB –> poor feeding
Reduced SpO2
Bronchiolitis obliterans (adenovirus)
Hyponatraemia (SIADH)
What Ix are required for bronchiolitis?
None - it is a clinical diagnosis.
But an NPA can be taken for infection control and epidemiology purposes.
What (in addition to other signs of severity) is a unique sign of severity of bronchiolitis?
What are the general signs of severity of respiratory illness?
Apnoeic episodes
Also: RR, SpO2, HR
WOB
Neurological status
What is the most common cause of finger clubbing in children?
CF
What is a seizure versus epilepsy?
If a child with cerebral palsy has seizures, is this epilepsy?
Seizure = known trigger
Epilepsy >1 seizure both with unknown triggers / are unprovoked.
Yes. Even though the triggers are not of “unknown” cause the child would often be said to have “epilepsy” because at baseline they have chronic, recurrent seizures without any acute precipitants.
How do you conceptualise seizures in a child?
And what are the types of childhood seizures to know?
- Was it provoked?
- Fever / Dravet Syndrome
- Meningitis
- Syncope
- Breath Holding
- Hypoglycaemia
- Was it unprovoked? = EPILEPSY
- Generalised
- West syndrome / infantile spasms
- Juvenile myoclonic epilepsy
- Absence
- Childhood absence seizures
- Juvenile absence seizures
- Partial
- Temporal lobe epilepsy
- Benign focal epilepsy of childhood (Rolandic)
- Generalised
What are the differential diagnoses for sudden collapse?
And how might you rule in/out these conditions on history?
SSS-VVV
Seizure
- Did anyone witness stiffening or jerking?
- Tongue biting or blood in the mouth?
- Urinary/faecal incontinence?
- Postictal state?
- Triggers?
Syncope
- Chest pain or palpitations prior to collapse?
- Rapid recovery?
Sugar (hypoglycaemia)
- Diabetic?
- Food / drink?
VBI
- Older patient with atherosclerotic disease
- Brought on by head turning?
Vestibular
- Vertigo - room spinning?
- Change with position?
Vasovagal
- Fear or stress beforehand?
How does West Syndrome / Infantile Spasms present and in what age?
What is the outcome?
4-12 months old
Sudden drawing up of the legs, hunching forward of the neck and shoulders, and flinging out of the arms.
Poor prognosis 1/20 mortality.
Severe developmental delay.
“An 8 month old shows sudden drawing up of the legs, hunching forward of the neck and shoulders, and flinging out of the arms.”
What condition?
West syndrome / infantile spasms
How does juvenille myoclonic epilepsy present?
At what age?
Begins in teenage years
generalized tonic–clonic seizures, early morning myoclonic jerks, and sometimes absence seizures.
Usually occurs in the morning when waking from sleep or from a nap.
A 12 year old presents with myoclonic jerks upon awakening in the morning. This has happened for the past year.
What is the diagnosis?
Juvenile Myoclonic Epilepsy
How does benign focal epilepsy of childhood present and when?
What is it’s prognosis?
What is the theory as to how this occurs?
Usually presents
think mouth
Tingling or twitching of the mouth and preserved consciousness, often with associated drooling, choking noises and inability to speak.
Tends to resolve in the teens, excellent prognosis.
The theory is that this is “growing pains” of the brain
A 6 year old presents with twitching of the mouth and drooling, choking noises making her unable to speak.
What is her diagnosis?
Benign Focal Epilepsy of Childhood / Rolandic Epilepsy / with centrotemporal spikes
What is the other names for benign focal epilepsy of childhood (or strictly, the TYPE which is listed on Monash MCQ)?
Rolandic
/ with centrotemporal spikes
How does temporal lobe epilepsy present?
Aura =
- fear, unusual smells or tastes, abdominal discomfort and dizzy or dreamy states
Siezure (looks like absence) =
- motionless staring, fearful or bewildered facial expression, unresponsiveness and automatisms
but can also have autonomic symptoms such as facial flushing or pallor, salivation and sometimes vomiting.
A 4-year-old girl presents because her mother has noticed that she has increasing abdominal distension and teachers have noticed that she has small pauses in her activity or talking. The events come on without warning, last for 1-3 seconds and are associated with
some subtle lip-smacking.
What is this?
Temporal lobe epilepsy?
What are the causes of provoked seizures in a child?
FUCKS
Fever (Febrile Convulsions)
Unwell (Menigitis)
Cardiac (Syncope)
Knocked, fallen, fright (Breath Holding Attacks)
Sugar (hypoglycaemia due to T1DM or inborn error of metabolism)
How does a Breath Holding Attack Present and at what age?
1-2 years
Precipitated by either physical trauma, such as a knock or a fall, fright, anger or frustration.
Attacks usually commence with crying, but this may be brief or absent.
Apnoea then occurs with cyanosis or pallor.
Sometimes associated with Fe defficiency!
An 18month old falls over, starts to cry and then pauses. He turns blue and then has a “funny turn”. What is the diagnosis?
Breath holding attack
What are the diagnostic criteria of a febrile convulsion?
A seizure in the conext of:
- Fever >38 degrees [before, during OR after the seizure]
- No evidence of CNS infection
- No history of afebrile seizures
- No history of neurological deficits or developmental delay
What are the types of febrile convulsion?
Simple vs Complex
Simple
- Generalised tonic or tonic/clonic seizure
- Do not recurr within the same febrile illness
Comples
- Focal seizure
- >15 minutes + incomplete recovery after one hour
- Occur within the same febrile illness, OR
If a child with known epilepsy has a seizure triggered by a fever, is this a febrile convulsion?
No
What is the epidemiology of febrile seizures?
Febrile seizures occur in 3% of the population.
Most commonly in children 6 months to 6 years of age.
How might you tell, clinically, if the seizure is focal or generalised?
If their eyes deviate to one side = focal
What investigations would you do for a suspected febrile convulsion if the source of the fever was unknown, or if the child was
Bedside Tests
- BGL
- Urine dipstick
Labratory Tests
- Urine MC&S
- FBE, CRP, ESR
- Blood culture
- UEC + CMP
Imaging
- CXR (if respiratory symptoms)
Invasive Tests
- LP
What investigations would you perform if you suspected febrile convulsions, knew the source of the fever and the child was >12 months old?
BGL only
What is the prognosis of febrile convulsions?
Good - they are benign.
Future febrile convulsions?
- 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%).
Future epilepsy?
- No increased risk with febrile convulsions.
What is the caveat in the diagnosis of febrile convulsions?
It is now recognised that some children can have a presentation with convulsions and an acute infectious illness (particularly gastroenteritis) without documented fever.
This is sometimes referred to as “ afebrile febrile convulsion
What are the differential diagnoses / complications of febrile convulsions?
Febrile Status Epilepticus
Dravet Syndrome
What is the empirical treatment of suspected bacterial meningitis?
Ceftriaxone + dexomethasone
Which congenital cardiac disease is most commonly associated with Turner’s syndrome?
Aortic coarctation
What is the most common aetiology of CAH?
CAH is due to 21-hydroxylase deficiency in 90% of cases
In the most common type of CAH, what are is diagnostic?
21-OH deficiency is the most common type
High levels of 17-OH
What is the typical hormon distrubance of CAH?
Low cortisone
Low aldosterone
High androgens
What do you test for if you suspect coeliac disease in paediatrics?
- Total IgA
- tTG IgA (tissue transglutimase - this is an IgA antibody itself, and so if you have a low IgA you can have a flase negative anti-tTg)
- DGP IgG (deaminated gliadin peptides)
If these are positive then do a biopsy.
Should not cut out gluten whilst having these tests.
What are the causes of abnormal positioned (impalpable in the crotum) testes?
Testes Absent
- intra-uteine torsion
- endocrinological causes of absence testes
- eg CAH and other causes of ambiguous genitalia
Testes Present
- Ectopic (haven’t followed the normal course)
-
Normal course
-
Undescended
- Are they in the in the inguinal canal, external ring or intra-abdominal
-
Retractile
- Defined by the lowest point to which they can be pulled down
-
Undescended
What is the other name for undescended testicles?
Cryptorchidism
What is the epidemiology of undescended testes?
What is the natural history?
Cryptorchidism is very common.
Present in 20% of term male neonates
Present in 30% of preterm male neonates
A about 3 months old most testes have descended. Only 1% of male neonates will have undescended testes at this time.
If you note impalpable testes on newborn examination what else should you look for and why?
hypospadius
cryptochidism + hypospadius often = CAH
What is the pathophysiology of undescended testes?
The testes originate in the abdominal cavity. They then descend down through a tube call the processus vaginalis (an outpuching of the peritoneum) into the scrotum.
The processus vaginalis then obliterates.
In some neonates, the testis hasn’t descended through this canal by the time they are born, and is still up in the abdomen. This is true particularly in prematurely-born neonates.
What are the risk factors of cryptorchidism?
Premarturity
LBW
FHx
What are the risks of cryptorchidism?
SHORTER TERM
An undecended testis is at greater risk of trauma and torsion
LONGER TERM
A male with a history of an undescended testile is at a greater risk of infertility and testicular malignancy.
What is the management of cryptorchidism?
Basics
- Reassure parents
Place & Person
- Re-check at 3months of age
- If still hasn’t desced –> surgical referral
Ix & CD
- U/S (rarely)
Definitive Management
- ORCHIDOPEXY at 6-12 months
- Or hormone injections (BHCG) if close to scrotum
Follow Up
What is the defitive management of cryptorchidism?
When is it best performed?
What are the benefits of this management?
Orchidopexy
This surgical procedure is best performed at 6-12 months.
This procedure does not reduce the risk of infertility opr malignancy, it does reduce the risk of torsion and trauma.
It also reduces psychological risks.
What is the management of a retractile testis?
Rarely surgery is required.
Usually will descend and stay there by 3 months.
What are the differential diagnoses of an acute scrotal swelling?
ITCH HIS BITS
Inguinal hernia*
Torsion – of testis, of testicular appendage*
Cancer
Henoch-scholein purpura / NEPHROTIC SYNDROME
Hydrocele*
Infection – orchitis, epididymitis
Spermatocele*
Blood (haematocele)
Idiopathic scrotal odema*
Trauma
Swollen veins (varicocele)
*affects neonates
How might testicular torsion present, in terms of history and examination?
History
- An acute painful testicle / RLQ Pa
- May have N&V
Examination
- Swollen testis
- Red / lacks rugoisty
- Testis is “riding high”
- Very tender
- Lacks cremestaric reflex
What is the management of tesicular torsion?
Basics
- Pain relief
- Keep the child fasted
Place & person
- Urgent surgical review
Ix and confirm diagnosis
- Pre-surgery work-up
- U/S if unsure
Definitive Management
- urgent surgical de-torsion
Follow up
- surgical follow up
What are the two types of testicular torsion
- True testicular torsion
- Torsion of the testicular appendage (Hydatid of Morgagni)
What is the management of torsion of the tesiciular appendage?
Treatment is usually supportive (analgesia and scortal elevation).
Surgery if recurrent pain.
What is the other name for the testicular appendage?
The hydatid of morgani
What are the clinical signs of a testicular appendage torsion?
Swelling is not generalised
Blue dot sign
Who gets epididimoorchitis?
What is it’s typical presentation on history and examination?
Young children [UTIS]
Sexually active adolescents [STIs]
History
- concurrent UTI or STI
- subacute swollen, painful testis
Examination
- swollen, tender testis
- cremasteric reflex is PRESENT
What is the management of inguinal hernia?
Reducible - urgent surgical referral
Irrecuible - urgent surgery
Pain relief in the interim
Ensure fasting
What is a hydrocele?
What are it’s clinical fetures?
Peritoneal fluid which has tracked down through the processus vaginalis
Swollen but non-tender and transilluminates
What is a spermatocele?
How does it present?
An epididymal cyst filled with sperm
Non tender, smaller swelling and transilluminates
What is idiopathic scortal oedema?
A bland non-tender odema of the scrotal, penis and perineum.
What congenital syndrome is tested for with NIPTs which is not tested for with traditional screening?
Patau Syndrome (Trisomy 13)
Choroid plexus cysts on U/S + “rocker bottom” feet on U/S = what syndrome?
[hint = usually hasn’t had screening tests]
Edward’s Syndrome
Female neonate with webbed neck + bilateral pedal odema = what syndrome?
Turner’s syndrome
45XO
At what age do febrile convulsions occur?
6 months - 6 years
What is the diagnostic criteria of Kawasaki disease?
Fever + 4/5 of the following criteria
Fever >39 >5/7
Lymphadenopathy (>1.5cm)
Arteries for atypical (if there is arterial involvement don’t need the other criteria to Dx Kawasaki)
Mouth - strawberry lips and tongue
Eyee
What investigations are required for suspected kawasaki disease?
Bedside tests
ECG – look for ischaemia / infarction
Urine dipstick – to exclude UTI
Bloods and urine
ASOT / Anti DNAase B (to exclude strep throat)
FBE (often a neutrophilia, thrombocytosis, normochromic / normocytic anaemia)
ESR, CRP (markedly elevated)
LFT (raised ALT, hypoalbuminaemia)
Imaging
Echocardiography
- at least twice: at initial presentation and, if negative, again at 6 - 8 weeks
- record a baseline of coronary artery dimensions at initial presentation
- You’re looking for aneurysms, valvular regurgitation or hypomotility
Special tests
None
What is the definitive and long term management of Kawasaki disease?
Definitive management
Intravenous immunoglobulin (2 g/kg over 10 hours; preferably within the first 10 days of the illness.)
Aspirin 3 - 5 mg/kg once a day for at least 6 to 8 weeks
Long term
At least one further echocardiogram should be performed at 6-8 weeks. If this is normal, no further examinations are needed.
Differentiate the nomenculature of “simple” versus “complex” in the context of seizures versus in the context of febrile convulsions?
Febrile Convulsion
Simple
- Generalised
- Tonic-clonic
- Only ONE per febrile illness
Complex
- Focal features
- >15 minutes
- >1 per febrile illness
- Incomplete recovery in 1 hour
Seizures
Simple = no LOC
Complex = LOC
(But this is in fact old terminology)
When do you refer a child with febrile seizures to paediatric neurology?
When the febrile seizure is complex:
Focal
>1 seizure in the one febrile ilness
>15 minutes
incomplete recovery in one hour
What are some epidemiological facts to tell parents about febrile convulsions?
Rule of 3s
They occur in 3% of the population.
1/3 recur
Do not cause brain damage or learning impairment, but 3% of children with FCs will develop epilepsy
(compared to the general population incidence of 0.5%)
What is the active management of a seizure?
DRABC
After 5-10 minutes:
Correct BSL + electrolytes
Benzodiazapine (wait 5-10 minutes, if still going…)
Benzodiazapine again (wait 5-10 minutes, if still going…)
Then
Phenytoin / Phenybarbitone
*Benzodiazapine could be midazolam or diazepam
In what clinical situations should you ALWAYS do a lumbar puncture in paeds?
Not up to date with meningitis-pathogen vaccinations
Clinically unwell
Oral antibiotics (partially treated meningitis)
What should you advise parents to do if / when their child is having a febrile convulsion?
- When they are unwell with a fever or a viral illness, for example, keep an eye on them. Don’t allow them near water or at heights.
- When they are having a seizure:
- remove any tight clothing
- put them on something soft, and somewhere safe (away from water, heights)
- Video the seizure if possible
- Time the seizure, if >5 minutes or if concerned, bring them in to hospital.
What can breath holding attacks be associated with?
Fe defficiency!
And can be improved with Fe supplements!
What do infants with West Syndrome go on to have, often, if they survive?
Lennox-Gastaut Syndrome
What are the DDx of seziures in childhood?
PG VIBES
PARASOMNIAS, PSYCHOGENIC
GORD/GLUCOSE
VERTIGO
INFECTION – FEBRILE CONVULSIONS
BREATH-HOLDING SPELLS
EPILEPSY
SYNCOPE
What is the type of epilepsy associated with GORD?
Sanderfer’s syndrome
What is the EEG characteristic of West Syndrome
hypsarrhythmia
How should you investigate afebrile neonatal seizures?
- Continuous EEG monitoring
- Cranial U/S can identify haemorrhage and cerebral malformations
- MRI may be required for vascular lesions
What is the characteristic feature of EEGs in absence seizures?
3HZ spiking
What does NOT normally happen in absence seizures?
They do not fall
They do not bite their tongue
They are usually not incontinent
What should you consider discussing in an epilepsy OSCE?
STOP CLAMP
S - Social/psychological support
T – Triggers – sleep, stress, alcohol, drugs
O – Occupational hazards (driving, swimming)
P – Pastimes – rockclimbing etc
C – Compliance and the possibility of treatment free time
L - Liver ezymes and levels
A – Adverse effects
M – Monotherapy
P – Pregnancy and Protection
S – Safety: create a seizure management plan
What is the most common paediatric cancer?
Of all kids, who are more likely to have ro have this cancer?
ALL (25-35% of all childhood cancers)
It is also the most common type of leukaemia in kids, but not in adults
Those with down syndrome are more likely to have ALL and AML.
What is the prognosis of ALL?
Good
Cure rate of 80%
How long is chemotherapy required in the treatment of ALL?
Why?
The CNS and testes can serve as sanctuary sites, where leukaemic blasts are sequestered from chemotherapy. The presence of disease in these sites increases the likelihood of relapse and probably explains why boys require 3 years of treatment compared to 2 years in girls.
What is the aetiology of ALL?
It is associated with an abnormality of chromosome 11
what is haemophilia A?
what is haemophilia B?
Which one has an eponymous name and what is it?
A = Factor VIII deficiency
B = Factor IX deficiency = Christmas Disease
how to you classify the severity of haemophilia A or B?
severe
moderate 2-5% of clotting factor
mild 5-40% of clotting factor
which is more common, haemophilia A or B?
A
What is the definitive management of haemophilia A?
- Tranexamic acid to stop nose bleeds (mild)
- DDAVP / Desmopressin (mild-moderate)
- Factor VIII infusions
*DDAVP can also be used in the treament of type 1 Von Willibrans disease
What is the mechanism of action of tranexamic acid?
It inhibits the conversion of plasminogen to plasmin, which usually helps dissolve a fibrin clot.
What investigations will be abnormal, when Ix for haemophilia?
- FBE - might have anaemia
- APTT - slow [intrinsic pathway]
- INR / PT - usually normal [extrinsic pathway]
- Factor VIII / IX assay - low
- Genetic testing +ve for haemophilia
How would you typically compare the clinical presentation of factor defficiency / dysfunction versus platelet deficiency / dysfunction?
Factor Dysfunction
- Bleeding at surgery
- Spontaneous bleeding
- Bleeding into muscle and joints
- Purpura and ecchymosis
Platelet Dysfunction
- Bleeding at surgery
- Worsened normal bleeding (epistaxis, menorrhagia, cuts)
- Mucous membranes, skin
- Petechiae
What are the most common causes of petichiae in a child?
SHILED
Sepsis (Meningococcal)
HSP / HUS
ITP
Events (NAI or trauma)
Leukaemia
DIC (usually in the conxt of evere sepsis)
what is the most common cause of an isolated thrombocytopaenia in children?
ITP
(idiopathic thrombocytopaenic purpura)
what is the most common clinical presentation of ITP?
Petichiae / purpura after an URTI in a child who is otherwise well, in a chlid with ISOLATED thrombocytopaenia
(want to rule out no reduction in RBC or WBC - to rule out leukaemia)
What are the types of ITP?
Acute ITP
- Usually in young children (2-5 years old)
Chronic ITP
- >12 months
- Usually in children >7 or adults
What is the management of ITP?
Basics
- Compression/ manage any active bleeding
Place and Person
- Outpatient if mild
- Inpatient if severe
Ix and Confirm Dx
- FBE (ensure no pancytopaenia)
- determine severity
- Normal blood film
Definitive Management
- mild (>20 x 10^9) - watchful waiting with ongoing review [75-85% of the time the condition will self resolve, and risk of ICH is
- high or low dose steroids
- IVIg
Prognosis & Follow Up
- Not contact sports
- Explain main concern of ICH - explain signs to look out for
- Regular review
- No NSAIDs or asprin!
What is the managament of acute asthma?
OASIS
Oxygen (NP, HM, HFNP, CPAP)
and
Salbutamol (inhaled or IV)
Ipatropium bromide (burst therapy)
Steroids (oral or IV)
Amiophylline / MgSO4 if very severe - in ICU
how much ipatropium bromide do you give?
When do you give it?
Use in severe asthma attach
Give with salbutamol bursts
3-4 puffs if
6-8 puffs if >6yo
How do you assess severity in asthma?
- Ability to talk
- HR
- neurological status
- WOB
- SpO2
What is the management of croup?
Basic
- comfort the child, avoid over-examination
- minimal handling
- O2 therapy is not usually needed - if it is, it is very severe!
Place and Person
- inpatient versus putpatient
Ix and Confirm Dx
- a clinical diagnosis
Defitinitive Management
Mild to moderate
- Oral prednisolone 1mg/kg
- OR Oral dexamethasone 0.15mg/kg – 0.6mg/kg
Severe
- Oxygen
- Nebulised adrenaline 1:1000 solution
- Dexamethasone IV 0.2mg/kg
- Follow with oral steroids
- ETT if going into respiratory failure
Ongoing
If
who gets a posterior urethral valve and what does it cause?
MALES only
Bilateral hydronephrosis
how does a posterior urethral valve present in the antenatal period?
bilateral hydronephrosis
distended bladder
oligohydramnios
What is found on CXR for hyaline membrane disease?
ground glass appearance
who tends to get TTN and why?
Babies who are small or premature or who are delivered via rapid vaginal deliveries or C-section don’t undergo the usual squeezing and hormone changes of a vaginal birth. So they tend to have more fluid than normal in their lungs when they take their first breaths.
What are three things you need to remember about hepatoblastoma for Monash MCQs?
- The most liver cancer in children (more common than HCC)
- Kids have high levels of Alpha Feto-protein (as they would with HCC)
- It is associated with FAP (eg. family member has colonic polyps)
What syndrome is associated with an increased risk of Wilms Tumor?
Beckwith-Wiedemann syndrome
(an “overgrowth” syndrome)
With which congenital cardiac anomoly is DMD associated with?
Dilated cardiomyopathy
What is a common arm # when a child FOOSHes?
supracondylar fracture
how do you decide if a hyperbilirubinaemia is conjugated or un-conjugated?
It is conjugated if the conjugated fraction of bilirubin is >15% total or >15umol/l
What is first disease?
Measels
What is second disease?
Scarlett fever
What is third disease?
Rubella
What is fifth disease?
Parvovirus B19
What is sixth disease?
Roseola
(also known as sixth disease, exanthem subitum, and roseola infantum)
What is Rubeola?
Measals
What is german measels?
Rubella
What are Koplik’s spots and in which disease are they present?
Measels
What do you need to keep in mind with sub-total hysterectomies?
Need to keep having Pap smears
What are the important considerations in a child with a respiratory illness, other than the illness itself?
- The child’s WOB which affectes their ability to feed
- The distance the child lives from the hospital / how sensible or concerned the parents are
What is another name for measels?
What is another name for rubella?
Measels = Rubeola
Rubella = German Measels
What is Roseola?
What is Rubeola?
Roseola = Roseola intantum (also known as sixth disease, exanthem subitum, and roseola infantum) caused by HHV-6
Rubeola = Measels
What is associated with a strawberry tongue?
Scarlett fever / streptococcus (also Kawaskai?)
What is associated with petichiae on the hard palate?
Rubella
(Formeicher’s Sign)
If a newborn has a strawberry naevus + stridor, what do you suspect?
What is the management?
hemanigoma in the airway
skin haemangiomas = The majority of these lesions will involute spontaneously over time and will require no treatment
airway haemangiomas = propanolol
What shouldn’t you do in a child with stridor?
examine the upper airway
What is the triad of intussusception?
- Colicky abdominal pain
- Currant jelly stool
- Palpable abdominal mass
What dissorders are associated with intussusception?
- Meckel’s diverticulum
- Polyps
- Small bowel lymphoma
- Duplication cysts
- Vascular malformations
- HSP
- CF
- HUS
How is intussuseption managed?
Basics
IV access, commence fluid resuscitation
Place and person
Send to ED, time pressured management
Definitive management
1st line – Fluid resuscitation and contrast enema reduction
- Patients must be clinically stable for enema reduction
- Contraindicated if peritonitis, perforation, or hypovolaemic shock
- Pneumatic reduction (air enema), barium, saline and ultrasond-guided saline enemas are all effective reduction methods
2nd line – Fluid resuscitation and surgical reduction
- Laparoscopic or open operative reduction
- Factors suggesting lower reduction rate/higher perforation rate indicating surgery include age 5 years, symptoms for >48 hours, PR blood, dehydration, small-bowel obstruction and coiled spring sign on USS
- Broad spectrum antibiotics if perforation is suspected
What are the indications for surgery in intususseption?
Surgical options are reserved for:
- Those in whom enema reduction has failed
- Those who have clinical evidence of necrotic bowel, such as peritonitis and septicaemia
- Those in whom there is evidence of pathological lesions at the lead point.
Who are the high risk groups for pyloric stenosis?
- Male:Female (5:1)
- Firstborn
- Usually between 2-6 weeks of life
- Caucasian
- FHx – especially maternal!
*
What is the clinical presentation of 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)
What is the management of pyloric stenosis?
For dehydration and hypochloraemic, hypokalaemic metabolic alkalosis
- Fluid resuscitation may be necessary with 10-20ml/kg boluses of normal saline, for patients with moderate to severe dehydration
- Commence IV Fluids (0.45% Saline with 5% or 10% Dextrose + 10mmol KCl / 500mls) at 100mls/kg/day
- Make NBM and insert NGT if continues to vomit
For pyloric stenosis
- Pyloromyotomy (Ramstedt operation).
What are the complications of pyloric stenosis?
- Hypochloraemic, hypokalaemic metabolic alkalosis
- Depletion of HCl, excretion of K from kidneys in order to preserve H+
- Dehydration
What is the peak age for GOR?
- Peaks at 4 months of age that have >1 daily episode of regurgitation
- Bw 6-7 months the prevalence of symptoms decrease
- At 12 months of age only 5% have symptoms
What are the complications of GOR?
The complications of GOR are
- oesophagitis
- failure to thrive
- aspiration
What are the symptoms of GORD in children?
The symptoms of GORD are vomiting with
- pronounced irritability with arching
- refusal to feed
- weight loss or crossing percentiles
- haematemesis
- chronic cough, wheeze
- apnoeas
What is the recommended treatment of GOR?
Nothing
What are the indications for surgical managment of GORD and what is the procedure?
Failure of medical therapy or recurrent respiratory symptoms (aspiration).
Nissen fundoplication is the most widely used of the surgical procedures.
What is necrotising enterocolitis?
Occurs due to bacterial invasion of bowel wall due to ischemia.
Inflammation of wall can lead to necrosis and perforation.
It is the most common cause of neonatal emergency (20-40% mortality).
What is the pathophysiology of necrotising enterocolitis?
Hypoxia/stress causes redistribution of blood to heart and brain leading to gut ischemia, decreased mucous production and invasion of bacteria into wall à bacteraemia à sepsis. Can also à necrosis of bowel wall à perforation.
NEC may be generalised and involve most of SI and LI but may be segmental also. Most commonly affects colon and ileum.
What is the pathognomic sign of necrotising enterocolitis on AXR?
Gas in bowel wall - pneumatosis intestinalis (pathognomic- 75%)
What is the management of necrotising enterocolitis?
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 (perforation/necrosis, clinical deterioration despite resuscitation)- Cx: TPN cholestasis and short bowel
How much weight should a newborn gain in the first three months?
How much weight should they gain in 3-6 months?
0 - 3 months
- 180g/week
- 30g/day except on Sundays
- Note this is an average, not the minimal acceptable amount
3 – 6 months
- 120g/week
- 20g/day except on Sundays
- Note this is an average, not the minimal acceptable amount
*
What is considered a normal birth weight?
2500g-4500g
what is the weight at which a foetus is conisdered macrosomic?
>4,500g
What is an acceptable amount of birth weight a newborn can lose?
How quickly should they regain it?
A newborn can lose up to 10% of their birth weight
They should regain it within 2 weeks
At six months how age, how much more should an infant weight (compared to their birth weight) approximately?
twice their birth weight (although you can also check they are tracking along centile lines)
At 12 months of age, how much should an infant weight, in terms of their birth weight?
Three times thier birth weight
(can also check they are tracking along centile lines)
When does catch-up growth occur in a premature infant?
How should you monitor growth of a premature child?
Which premature infants are more likely to experience permanent growth failure?
Catch up growth occurs in the first two years of life
You should monitor growth of a premature child using a specialised premature growth chart.
Premature infants more likely to experience permanent growth failure if they are small for gestational age
How do you calculate the MPH for boys?
MPH = (father’s height + mother’s height)/2 + 6.5cm
How do you calculate the MPH for girls?
MPH = (father’s height + mother’s height)/2 - 6.5cm
What is the definition of FTT?
Why do you have to be careful about making this “diagnosis”?
When an infant’s/child’s weight is below 3rd percentile (2SD below the population mean)
OR
When the infant’s/child’s growth falls across 2-3 centile lines
NOTE: this is a symptom of an underlying pathology NOT a diganosis.
It also might be very normal! ie. 3% of the population will be
How often should you weigh a child?
Avoid weighing the child too frequently.
Do not weigh more than once a week for babies
Excessive weighing can cause normal fluctuations in weight velocity to cause unnecessary anxiety.
What are some DDx for FTT?
PATIOS
Psychosocial
Absorbtion
- CF
- Coeliac
- Milk allergy
Thyroid problems
Intake
- Milk/formula supply
- Sucking
- GORD
Output – diarrheoa & vomiting
Sick
What is Thalassaemia?
A heterogeneous group of genetic disorders of decreased production of normal globin chains leading to anaemia.
Explain the pathogenesis of beta thalassaema (major and minor).
- Hb is made up of four subunits. Usually two alpha and two beta
- The beta-globin gene is part of a cluster of genes located on chromosome 11
- Homozygous abnormality of the beta gene = Beta thal major
- Heterozygous abnormality of the beta gene = beta thal minor
What type of anaemia does beta thal present with?
hypochromic, microcytic anaemia
What would you find on Hb electrophoresis for Thal major, intermedia, minor?
In essence, beta thalassaemia leads to upregulation of HbA2 and HbF because these are beta chain independent.
How long is B12 stored for?
How long is folate stored for?
B12 - 1 year
Folate - 3 months
What microorganism causes epiglottitis?
Haemophillus influenzae
When are children immunised with Hib vaccine?
What else is included in the vaccine?
What is it called?
2 months, 4 months and 6 months
“Infanrix hexa”, includes:
- Diphtheria
- tetanus
- pertussis
- hepatitis B
- poliomyelitis
- Haemophilus influenzae type b
What should you do / not do if you suspect epiglotitis?
DO NOT EXAMINE THE THROAT
as it can precipitate obstruction.
How does epiglottitis present?
How does it differ to croup?
4Ds
- Dysphagia
- Dysphonia
- Drooling
- Dyspnoea
With epiglottitis, the child looks toxic / sick. They often keep their head very still and only move their eyes to follow you around the room, to avoid abstructing the airway. A good way to rule this out is to see if the child can move their neck. Cough is not a prominent feature and the stridor is soft.
With croup the child is more miserable (rather than sick - flat/floppy). They are able to move thir neck. They have a barking cough and stridor.
What is the management of epiglottitis?
Basics
- avoid throat examination
- O2 mask if required
- DR ABC
- Complete obstruction may occur in just a few hours. In general, nasotracheal intubation under anaesthesia is required. Arrange promptly.
Place & Person
- Admit to paeds ward / call PIPER
Ix & Confirm Dx
Definitive managment
- IV Ceftriaxone
Prevention / Follow Up
- Hib Vaccine
- Oral rifampicin for contacts
What is another name for West Syndrome?
At what age does it occur?
What does it look like?
What is the prognosis?
Infantile Spasms
4-12 months old
sudden drawing up of legs, flinging out of arms and hunching of shoulders and neck
Requires urgent neuro referral
1/20 mortality
Poor prognosis with developmental delay and long term serious epilepsy
What is the difference between juvenille and childhood absence epilepsy?
Juvenille = 10-14 years old
Childhood = 4-9 years old
Juvenille is associated with a worse prognosis. Also tend to have tonic clonic seizures. Don’t respond well to medication. Likely to persist.
None of the above for childhood absence seizures
A 2-year old girl is examined by her uncle who is a medical student practising for his exams.
He notes that she is not clinically jaundiced but has significant hepatomegaly. The girl’s
father has a history of multiple colonic polyps.
What is her diagnosis?
Hepatoblastoma
A rare, rapidly progressive, usually fatal childhood malignancy.
There is a proven association between hepatoblastoma and familial adenomatous polyposis (FAP), which is due to germline mutation of the APC (adenomatous polyposis coli) gene.
A 9-year old boy presents with a 3-week history of cough, difficulty in lying flat and faint stridor. He is noted to have supraclavicular lymphadenopathy.
What is his diagnosis?
Lymphoma
Lymphomas are the most common anterior mediastinal mass in children. Although Hodgkin lymphoma typically occurs before age 10 years, non-Hodgkin lymphoma is common in both the first and second decades of life.
Large anterior mediastinal masses may cause dyspnea when patients are lying supine.
In children, mediastinal masses are more likely to cause tracheobronchial compression and stridor or symptoms of recurrent bronchitis or pneumonia.
What is the most common viral exanthem before age 2?
Roseola infantum
Name the viral exanthems
First disease = measels
Second disease = Scarlett Fever
Third disease = Rubella
Fifth disease = parvovirus B19
Sixth disease = Roesola intantum / subitum
How does Roseola Infantum / Subitum clasically present?
And in what age group?
High fever
Sudden onset of rash on trunk which then extends down the limbs
Classically presents after 6 months and before 4 years
It is the most common viral exanthem under the age of 2
What micorignism causes Roseola Subitum / Infantum?
Caused by Human Herpesvirus 6 (HHV-6) and less commonly Human Herpesvirus 7 (HHV-7)
How common is neonatal jaundice?
80% of preterm infants
60% of term infants
Which form of bilirubin can cross the BBB?
Unconjugated
It is polar (ie. fat soluble). This is why it is bound to albumin to be transported in the blood.
Physiological jaundice is a diagnosis of exclusion.
What are the criteria for jaundice to be physiological?
How is the pathophysiology of jaundice often summarised?
Present AFTER 24 hours
Disappears after 10-14 days
Always unconjugated
“The immature liver is unable to conjugate bilirubin until the first week of life”
What are the two rules in terms of juandice / hyperbilirubinaemia which mean that it’s PATHOLOGICAL
Conjugated hyperbilirubinaemia is always pathological
Early jaundice (
What are the causes of early jaundice?
Which of these are conjugated and which are unconjugated?
- Haemolytic
- Endogenous
- G6PDD
- Sickle Cell
- Hereditary spherocytosis
- Exogenous
- Immune
- Rh disease
- ABO incompatibility
- Minor blood type incompatibility
- Non-immune
- Sepsis
- Immune
- Endogenous
- Non-Haemolytic
- Hepatitis (rarely) = consider if >15% conjugated
- ALL UNCONJUGATED EXCEPT THIS
What are the causes of jaundice which is “too high”?
- Too many RBCs
- polycythaemia
- cephalhaematoma
- swallowed blood
- GI causes –> increased enterohepatic circulation
- bowel obstruction
- poor feeding
What are the causes of persistent jaundice?
Which are conjugated / unconjugated?
BIG BaTH
Breast Milk Jaundice
Infection
G6PDD
Biliary
atresia / choledococyst [these are conjugated]
TORCH [conjugated]
Hypothyroid
How is persistent jaundice defined in a term versus pre-term neonate?
jaundice > 2 weeks of age in a term child
> 3 weeks of age in a preterm child
What type of hyperbilirubinaemia is breast milk jaundice?
unconjugated
how do you define conjugated versus unconjugated hyperbilirubinaemia?
conjugated hyperbilirubinaemia is when the conjugated bilirubin is >15% of the total bilirubin
unconjuagted hyperbilirubinaemia is when the conjugated bilrirubin is 85%)
What investigations would you order for neonatal jaundice?
*
