Medicine Flashcards
By what age does infantile colic usually resolve?
6 months
What is the dosing of IM benpen in children for meningitis?
25mg/kg
What is athetosis?
Continuous stream of slow, flowing, writhing involuntary movements
By what age does flat feet tend to resolve?
4-8 years
What is meant by Hemiballismus?
repetitive, but constantly varying, large amplitude involuntary movements of the proximal parts of the limb
What is the natural history of a capillary haemangioma?
Increase in size rapidly for the first 6 months and then start to resolve. Fifty per cent will have resolved by 5 years of age, 70% by 7 years and 90% by 9 years.
What is the antibiotic of choice for meningitis in children?
Ceftriaxone
Darier’s disease is associated with which vitamin deficiency?
Vitamin A
Chédiak-Higashi disease is associated with which vitamin deficiency?
Vitamin C
Gaucher’s disease occurs due to deficiency of which enzyme?
Beta-Glucosidase
What is the most common congenital cardiac defect?
VSD
What is the most common cyanotic cardiac defect?
Tetralogy of Fallot
What is the inheritance pattern of the thalassaemias?
Autosomal recessive
In which area of the world is alpha-thalassaemia most prevalent?
SE Asia
In which area of the world is beta-thalassaemia most prevalent?
Mediterannean
What is the genetic basis of beta-thalassaemia?
Point mutation in beta chain gene on chromosome 11
In what pattern is sickle cell disease inherited?
autosomal recessive
What is the specific genetic change which results in HbS?
A to T change at codon 6 of beta-Hb gene
What is the correct position for a paediatric LP?
L3-4
What are the causes of cyanotic heart disease?
5Ts + P
TGA
Truncus arteriosus
TOF
TAPVD
Tricuspid atresia
Pulmonary atresia
Which organism is frequently found in infected cat/dog bites?
Pastuerella multocida
Why are NSAIDs NOT recommended in chicken pox?
Increased risk of necrotising fasciitis
What is the school exclusion period for measles?
4 days from the rash onset
What is a normal HR for a newborn?
100-180
What is the normal HR for an infant (1 month - 1 year)?
80-140
What is the normal HR for a toddler (1-3 years)?
80-130
What is the normal HR for a child aged 3-6?
80-110
What is the usual treatment for VWB disease?
Desmopressin
What is the most common symptom reported by caregivers in Munchausen’s syndrome by proxy?
Apnoeas
Which factor is deficient in Haemophilia C?
Factor XI
What is Lutembacher Syndrome?
Concomittant ASD and Mitral stenosis
Hartnup disease is a disorder of…
Amino acid metabolism
What is the most common cause of delayed puberty?
Constitutional
Give examples of extensively hydrolysed formulas.
Aptamil Pepti
Cow and Gate Pepti-Junior
Pregestimil
Nutramigen
Isolated development of breast tissue before the age of 8 in girls without any other signs of puberty is called…
Premature letharche
What is the peak age for GORD?
1-4 months
What is generic advice for GORD?
Feed at 30 degrees
Sleep on back
Ensure not overfeeding
How much feed is recommended for infants?
150mls/kg/day
What is the step-wise Mx for formula-fed infants with GORD?
Ensure not overfed
Smaller, frequent feeds
Thickeners
Alginate trial 1-2 weeks
What is the management for breast-fed infants with GORD?
Trial alginate therapy if FTT/excess distress
Are PPIs recommended for GORD in children?
No, only if FTT/distress/failed medical therapy
What is the management of CMPA in formula-fed babies?
Switch to eHF, if fails of severe, consider AAF
How should cow’s milk be re-introduced to children with CMPA?
In hospital due to risk of anaphylaxis
What is Niemann-Pick disease?
lysosomal storage disorder caused by the deficiency of the enzyme sphingomyelinase
What is Lennox-Gastaut syndrome?
A seizure disorder characterised by epileptic seizures, psychomotor delay, low IQ, and behavioural disorders
Which EEG pattern is found in Lennox-Gastaut Syndrome?
Slow spike-wave complexes in inter-ictal period
What is the gold-standard investigation for primary ciliary dyskinesia?
Bronchial brush biopsy
What PEFR suggests a moderate exac of asthma?
50-70%
What PEFR suggests a severe exac of asthma?
33-50 %
What PEFR suggests a life-threatening exac of asthma?
< 33%
A child being too breathless to feed/talk suggests which severity of asthma exac?
Severe
What are the signs of a life-threatening asthma exac?
SpO2 < 92%
PEFR < 33%
Silent chest
Cyanosis
Exhaustion
Confusion/ reduced GCS
Poor resp effort
What are the RR cut offs for differentiating moderate and severe exac of asthma?
RR 30 in over 5s
RR 40 in under 5s
What are the HR cut offs for differentiating moderate and severe exac of asthma?
HR 125 in over 5s
HR 140 in under 5s
What is the step-wise asthma management for under 5s?
SABA then ICS or LTRA then one not tried
What is the step-wise management for asthma in over 5s?
SABA then LS ICS then LABA
What are the 3 shunts of foetal circulation?
Ductus venosus
Ductus arteriosus
Foramen ovale
Where does the ductus arteriosus join?
PA to descending aorta
Ductus arteriosus patency is promoted by…
Prostaglandin E2
Give examples of acyanotic heart lesions.
ASD, VSD, PDA, coarctation
Which congenital cardiac defect is associated with foetal alcohol syndrome?
ASD
What is the immediate treatment for hereditary angioedema?
C1 esterase inhibitor concentrate
What is the treatment for chlamydial conjunctivitis in a neonate?
Oral erythromycin
Unable to abduct eye with retraction on adduction suggests..
Duane Syndrome
ITP and coombs-positive haemolytic anaemia suggests…
Evan’s Syndrome
What are the 4 characteristic features of Tetralogy of Fallot?
VSD
RVH
RV obstruction/pulm stenosis
Overriding aorta
‘Boot-shaped heart’ on CXR suggests…
TOF
Cyanosis soon after birth, worse on feeding with systolic ejection murmur L sternal edge suggests…
TOF
How is TOF managed?
PGE1 and surgical repair
What is required for TGA to be compatible with life?
ASD/VSD/AVSD
How is TGA managed?
PGE1, can use balloon atrial septostomy, definitive = surgery
Which surgery is used to correct TGA?
Rastelli procedure
Truncus arteriosus is most commonly associated with which genetic syndrome?
DiGeorge Syndrome
Which type of ASD is more common?
Ostium secundum
Systolic ejection murmur with fixed splitting of S2 suggests…
ASD
Which ASDs may close spontaneously?
< 5mm
How may a VSD present?
asymptomatic, FTT, HF
Child with HF and pansystolic murmur L lower sternal edge suggests….
VSD
Which genetic syndromes are associated with VSD?
Trisomies and Noonan Syndrome
‘Blowing apex murmur’ suggests…
AVSD
‘Continuous machine-like murmur’ suggests…
PDA
How is PDA managed?
Term - surgery
Pre-term - usually Ibuprofen +/- surgery
What is the main complication of PFO?
Stroke in later life
Coarctation of the aorta is most associated with which genetic syndrome?
Turner Syndrome
Weak femoral pulses suggests…
Coarctation
‘Rib notching’ on CXR suggests…
Coarctation
What are the main complications of coarctation?
LVH, HTN and aneurysm
Baby born at 28 weeks with resp distress, CXR shows ground-glass appearance suggests…
RDS
Resp distress in term infant born by C-section suggests…
TTN
What are the main complications of congenital diaphragmatic hernia?
Pulmonary HTN/hypoplasia which persists following surgery
Which children with UTI should receive an acute USS?
Atypical UTI - non-EColi organism, sepis, AKI, failure to respond within 48h
What is the earliest age that weaning should be tried?
17 weeks (around 4 months)
What is the Somogyi effect?
Child experiences night-time hypoglycaemia with rebound hyperglycaemia
How is central precocious puberty treated?
GnRH agonist (to down regulate FSH/LH)
Faltering growth, hypoK, hypophosphatemia, metabolic acidosis and high urinary pH suggests…
Cystinosis
How is mid-parental height calculated?
Add 7cm to mean of parental heights for male children, subtract 7cm for females
Which electrolyte abnormalities are found in Addison’s disease?
Low Na, high K
Give causes of ambiguous genitalia.
CAH
Klinefelter Syndrome
Androgen insensitivity syndrome
5-alpha reductase deficiency
What is CAH?
Group of conditions affecting cortisol biosynthesis
What is the most common enzyme deficiency in CAH?
21-hydroxylase deficiency
What hormone profile would be present in Klinefelter’s?
Raised LH, low testosterone
What does 5-alpha reductase do?
Converts testosterone to DHT which drives development of male genitalia
How is 5-alpha reductase deficiency inherited?
AR
What is the test of choice for 5-alpha reductase deficiency?
Testosterone/DHT ratio following HCG administration
What is the average age of female puberty starting?
11
What are the main sequence of events in female puberty?
Breast development
Height spurt
Pubic hair
Menarche
What is the average age of female growth spurt?
12
What is the first sign of female puberty?
Breast development
What is the first sign of male puberty?
Testicular growth
What is the average age of onset of male puberty?
12
What is the average age of the male height spurt?
14
What are the main sequence of events in male puberty?
Increase testicular volume
Increased penis length
Pubic hair
Facial hair
What is meant by precocious puberty?
Dev of secondary sexual characteristics < 8 in girls or < 9 in boys
What is the cause of central precocious puberty?
Premature HPG axis activation
What is the hormone profile in central precocious puberty?
Raised LH/FSH
What is the hormone profile in peripheral precocious puberty?
Low LH/FSH
How is central precocious puberty treated?
GnRH agonists
Give causes of central precocious puberty.
Idiopathic
Obesity
NF
Hypothyroidism
What is the most common cause of peripheral precocious puberty?
CAH
What is meant by delayed puberty?
No breast development by 13 or testicular volume < 4ml by 14
What is meant by primary amenorrhoea?
No periods by age 16
What is the most common cause of delayed puberty?
Constitutional
Give central causes of delayed puberty.
Consitutional, neglect, anorexia, chronic disease, tumours, kallman syndrome
Delayed puberty and anosmia suggests…
Kallman Syndrome
Give peripheral causes of delayed puberty.
PCOS
Androgen insensitivity syndrome
Turner’s / Klinefelter’s
What is the hormone profile in Kallman Syndrome?
Low FSH/LH/testosterone
How is Kallman Syndrome inherited?
X-linked recessive
46XY with female phenotype suggests…
Androgen insensitivity syndrome
What is the management for Kallman Syndrome?
Oestrogen therapy and bilateral orchidectomy
Long-standing proteinuria and hypocomplementaemia suggests…
Membranoproliferative GN
Neonate with cataracts and hepatomegaly suggests…
Galactosaemia
Galactosaemia is an inability to metabolise…
Galactose and lactose
What is the genetic basis for galactosaemia?
AR - due to mutation in G1P UDT gene on chromosome 9
Which Vitamin deficiency is common in Hartnup disease?
Vit B3 (Niacin)
Child with FTT, photosensitivity and increased amino acids in urine suggests…
Hartnup disease
Which enzyme is deficient in homocystinuria?
cystathionine beta synthase
What kind of habitus is common in homocystinuria?
Marfinoid
How is homocystinuria inherited?
AR
Ashkenazi Jewish boy with neurological symptoms, hepatosplenomegaly and pancytopaenia suggests…
Gaucher syndrome
What is the genetic basis for Gaucher’s disease?
AR - mutation in GBA1 gene
Which enzyme is deficient in Gaucher Syndrome?
Glucocerebrosidase
Ashkenazi Jewish child with progressive neurological disorder suggests…
Tay-Sachs disease
Which enzyme is deficient in Tay-Sachs disease?
Hexosaminidase A
What is the genetic basis for Niemann-Pick disease?
AR - mutations in SMPD1 gene
Which enzyme is deficient in Niemann-Pick disease?
Sphingomyelinase
Child with neuro features, hepatosplenomegaly and cherry red spot on macula suggests…
Niemann-Pick disease
Angiokeratomas, peropheral neuropathy and renal failure suggests…
Fabry disease
How is Fabry disease inherited?
X-linked
Fabry disease occurs due to deficiency of…
Alpha-galactosidase A
Lesch-Nyan Syndrome results in over production/accummulation of…
Uric acid
Child with neurological features, megaloblastic anaemia and self-injurious behaviour suggests…
Lesch-Nyan Syndrome
Neonate with hypoglycaemia / hepatic encephalopathy who did not have guthrie test suggests…
MCADD
How is PKU inherited?
AR
Which enzyme is deificent in PKU?
Phenylalanine hydroxylase
Child with fair hair and blue eyes, developmental delay and musty odour to urine and sweat suggests…
PKU
IVA results in an inability to break down…
Leucine
What is the main complication of GA1?
Brain damage, esp basal ganglia
Low Ca, low PTH suggests…
Hypoparathyroidism
Low Ca, high PTH suggests…
Vit D deficiency or pseudohypoparathyroidism
Low Ca, high PTH/phosphate and normal Vit D suggests…
pseudohypoparathyroidism
Pseudohypoparathyroidism may be associated with…
Albright’s Hereditary Osteodystrophy
Child with bow legs, impaired growth and generalised bone pain suggests…
Rickets / Vit D deficiency
Young child with rickets and prominent frontal bossing suggests…
X-linked hypophosphataemic rickets
What is the H Pylori eradication Tx in children?
One week PPI + Amoxicillin + Clarithromycin
At what age does diabetic eye screening commence for children with T1DM?
12
Large volumes of cow’s milk should not be offered to children of what age?
< 1 year
Lisch nodules are associated with…
NF
What is typically the first-line treatment for children with generalised epilepsy?
Na valproate
What is typically the first-line treatment for children with focal epilepsy?
Carbamazepine
At what age do febrile convulsions tend to occur?
6 months - 5 years
Is there evidence for regular antipyretics to prevent febrile convulsions?
No
What is the risk of future febrile convulsion if a child has had one previously?
1 in 3
What is the risk of epilepsy if a child has had a febrile convulsion with no additional risk factors?
2.5%
Which factors may provoke absence seizures?
Hyperventilation or stress
What is the treatment of choice for absence seizures?
Na valproate or ethosuximide
What is the EEG appearance in absence seizures?
Bilateral symmetrical 3Hz spike & wave pattern
Repeated spasms involving flexion of the head/trunk/limbs in first few months of life suggests…
Infantile spasms / West syndrome
What is the first-line treatment for infantile spasms?
Vigabitran
EEG hypsarrythmia suggests…
Infantile spasms
Atypical absence seizures, falls, jerks and mental hadicap suggests…
Lennox-Gastaut Syndrome
What is the EEG pattern in Lennox-Gastaut Syndrome?
Slow-spike
Unilateral facial sensiromotor symptoms with oropharyngeal involvement suggests…
Benign rolandic epilepsy
What is the first-line treatment for benign rolandic epilepsy?
Carbamazepine
What is the EEG pattern in benign rolandic epilepsy?
Centrotemporal spikes
Teenage girl with jerky movements in am and generalised seizures suggests…
Juvenille myoclonic epilepsy
What is the treatment of choice for juvenille myoclonic epilepsy?
Valproate / Lamotrigine
What is the recommended follow-up for children with T1DM?
Three-monthly appts with secondary care team
Which obese children may be offered orlistat?
All other measures underway
Either: orthopaedic issues, OSA or severe psych co-morbidities
Which anti-TB agent can cause red urine?
Rifampicin
What are the aims of treating precocious puberty?
Reverse sexual development & stop rapid growth (prevent short stature in adulthood)
What is meant by morphoea?
Localised scleroderma
Which structure may a fast-growing pituitary tumour compress?
Optic chiasm
What is the diagnostic test for CO poisoning?
Exhaled breath test
Which hormone is raised in anorexia?
Cortisol
How should a hypercyanotic spell be managed in TOF?
positional manoevres (knees to chest), oxygen, fluid bolus
Which anti-TB agent can affect eyesight?
Ethambutol
What is the inheritance of alport syndrome?
X-linked dominant
Distal renal tubular acidosis is caused by…
Impaired H+ excretion in distal tubule –> unable to acidify urine
Urine pH > 5.5 suggests…
Distal renal tubular acidosis
Proximal renal tubular acidosis occurs due to…
Defective bicarbonate reabsorption
What is the duration of Abx for a simple UTI in children?
3 days
Which children with UTI require imaging?
< 6 months, atypical or recurrent infection
Which features suggest atypical UTI?
Non-E Coli organism
Sepsis
AKI
Failure to respond to Abx within 48h etc
What is the most common cause of nephrotic syndrome in children?
Minimal change disease
Fusion of podocytes on biopsy suggests…
Minimal change disease
What is the prognosis for minimal change disease?
1/3 never recur, 1/3 recur once, 1/3 recur frequently/progress
What is the main Tx for minimal change disease?
Steroids
What are the most common causes of nephritic syndrome in children?
IgA nephropathy / post strep GN
What are the components of a ketogenic diet?
High fat, normal protein, low carb
Which hormone/neurotransmitter is raised in a carinoid tumour?
Serotonin
What is the main complication of abruptly stopping TPN?
Hypoglycaemia
Bruising in which areas is suspicious for NAI?
Buttocks, trunk, genitals, ears, back of hands
What distribution of burn is suspicious for NAI?
Glove and stocking
Which fractures may be suspicious for NAI?
Bucket handle, spiral, bilat long bone, sternum, scapula, multiple rib #
‘tropia’ suggests…
manifest squint
‘phoria’ suggests…
latent squint
Where is the eye in exotropia?
Turned out
Where is the eye in esotropia?
Turned in
Neonate with hypoxia, SOB, acidosis and weak/absent pulses within 48h suggests…
HLHS
What is meant by Vit D dependent rickets?
Unable to maintain adequate Vit D despite dietary intake
Intractable diarrhoea in first few hours/days of life suggests…
Apical microvillus atrophy
What is the purpose of giving 100% O2 in pneumothorax?
Encourages Nitrogen washout –> increased resorption
What imaging is included in a standard skeletal survey?
Multiple XRs and CTH only
What are the key features of hyperK on ECG?
Tented T waves, PR/QRS prolongation
Diplopia worse on downward gaze suggests…
Trochlear nerve palsy
What is meant by pollakiuria?
Functional need to empty bladder, most common age 4-6
Which chemotherapy agent(s) are associated with haemorrhagic cystitis?
Alkylating agents eg. Platinums
Which chemo agent is most associated with cardiomyopathy?
Doxorubicin
Which chemo agent is most associated with peripheral neuropathy?
Vincristine
What is the main Tx for Kawasaki disease?
Aspirin and Immunoglobulins
Which anatomical site is most commonly affected in UC in children?
Entire colon (90% have pancolitis)
What is the energy content of breastmilk?
~ 70 kcals/100mls
If introduced too quickly, calorie dense feeds may cause which electrolyte abnormality?
Hypernatraemic dehydration
What is the pseudomonas eradication therapy for children with CF?
Oral cipro and nebulised colistamethate sodium
What are the glucose thresholds for diagnosing diabetes?
Fasting > 7 or random > 11.1M
Murmur left upper sternal edge which radiates to the back suggests…
Pulmonary stenosis
Measurement of breathing out as hard & fast as possible is…
FVC
What is the initial investigation of choice for a child with a suspected metabolic disorder?
Blood gas
Where is Vitamin B12 absorbed?
Ileum
Where is iron absorbed?
Duodenum and proximal ileum
Infantile haemangiomas arise from which layer of skin?
Dermis
Which muscles contract during inspiration?
Diaphragm and external intercostals
Which muscles contract during expiration?
Internal intercostals
What is the most common type of tracheo-oesophageal fistula?
Type C
Which HLA locus is most associated with coeliac disease?
DQ2
Frequent infections and reduced nighttime eyesight suggests…
Vitamin A deficiency
Which children with head injury should receive a CT within 1h?
Evidence of #, GCS < 14 on initial assessment or < 15 2h after injury, post-traumatic seizure, focal neuro deficit, swelling/bruise > 5cm if <1y
Pellagra is caused by deficiency of…
Vit B3 (Niacin)
Which vitamin deficiency is associated with angular cheilitis?
Vit B2 (Riboflavin)
Which vitamin deficiency is associated with sideroblastic anaemia and peripheral neuropathy?
Vit B6 (Pyridoxine)
Vit C deficiency is also called…
Skurvy
At what age is hand preference concerning?
< 12 months
Inability to look down and in suggests…
Trochlear nerve palsy
Vertical diplopia (on descending stairs) suggests…
Trochlear nerve palsy
What is the most common cause of trochlear nerve palsy?
Congenital
Medial deviation of the eye and lateral diplopia suggests…
Adbucens nerve palsy
Diplopia on looking right suggests…
Right abducens nerve palsy
What is the characteristic ECG change in AVSD?
Superior axis deviation
Which fracture type is most specific for NAI?
Metaphyseal / corner #
