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MRCPCH > Medicine > Flashcards

Medicine Flashcards

1
Q

By what age does infantile colic usually resolve?

A

6 months

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2
Q

What is the dosing of IM benpen in children for meningitis?

A

25mg/kg

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3
Q

What is athetosis?

A

Continuous stream of slow, flowing, writhing involuntary movements

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4
Q

By what age does flat feet tend to resolve?

A

4-8 years

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5
Q

What is meant by Hemiballismus?

A

repetitive, but constantly varying, large amplitude involuntary movements of the proximal parts of the limb

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6
Q

What is the natural history of a capillary haemangioma?

A

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.

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7
Q

What is the antibiotic of choice for meningitis in children?

A

Ceftriaxone

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8
Q

Darier’s disease is associated with which vitamin deficiency?

A

Vitamin A

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9
Q

Chédiak-Higashi disease is associated with which vitamin deficiency?

A

Vitamin C

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10
Q

Gaucher’s disease occurs due to deficiency of which enzyme?

A

Beta-Glucosidase

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11
Q

What is the most common congenital cardiac defect?

A

VSD

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12
Q

What is the most common cyanotic cardiac defect?

A

Tetralogy of Fallot

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13
Q

What is the inheritance pattern of the thalassaemias?

A

Autosomal recessive

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14
Q

In which area of the world is alpha-thalassaemia most prevalent?

A

SE Asia

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15
Q

In which area of the world is beta-thalassaemia most prevalent?

A

Mediterannean

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16
Q

What is the genetic basis of beta-thalassaemia?

A

Point mutation in beta chain gene on chromosome 11

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17
Q

In what pattern is sickle cell disease inherited?

A

autosomal recessive

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18
Q

What is the specific genetic change which results in HbS?

A

A to T change at codon 6 of beta-Hb gene

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19
Q

What is the correct position for a paediatric LP?

A

L3-4

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20
Q

What are the causes of cyanotic heart disease?

A

5Ts + P
TGA
Truncus arteriosus
TOF
TAPVD
Tricuspid atresia
Pulmonary atresia

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21
Q

Which organism is frequently found in infected cat/dog bites?

A

Pastuerella multocida

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22
Q

Why are NSAIDs NOT recommended in chicken pox?

A

Increased risk of necrotising fasciitis

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23
Q

What is the school exclusion period for measles?

A

4 days from the rash onset

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24
Q

What is a normal HR for a newborn?

A

100-180

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25
Q

What is the normal HR for an infant (1 month - 1 year)?

A

80-140

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26
Q

What is the normal HR for a toddler (1-3 years)?

A

80-130

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27
Q

What is the normal HR for a child aged 3-6?

A

80-110

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28
Q

What is the usual treatment for VWB disease?

A

Desmopressin

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29
Q

What is the most common symptom reported by caregivers in Munchausen’s syndrome by proxy?

A

Apnoeas

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30
Q

Which factor is deficient in Haemophilia C?

A

Factor XI

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31
Q

What is Lutembacher Syndrome?

A

Concomittant ASD and Mitral stenosis

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32
Q

Hartnup disease is a disorder of…

A

Amino acid metabolism

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33
Q

What is the most common cause of delayed puberty?

A

Constitutional

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34
Q

Give examples of extensively hydrolysed formulas.

A

Aptamil Pepti
Cow and Gate Pepti-Junior
Pregestimil
Nutramigen

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35
Q

Isolated development of breast tissue before the age of 8 in girls without any other signs of puberty is called…

A

Premature letharche

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36
Q

What is the peak age for GORD?

A

1-4 months

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37
Q

What is generic advice for GORD?

A

Feed at 30 degrees
Sleep on back
Ensure not overfeeding

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38
Q

How much feed is recommended for infants?

A

150mls/kg/day

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39
Q

What is the step-wise Mx for formula-fed infants with GORD?

A

Ensure not overfed
Smaller, frequent feeds
Thickeners
Alginate trial 1-2 weeks

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40
Q

What is the management for breast-fed infants with GORD?

A

Trial alginate therapy if FTT/excess distress

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41
Q

Are PPIs recommended for GORD in children?

A

No, only if FTT/distress/failed medical therapy

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42
Q

What is the management of CMPA in formula-fed babies?

A

Switch to eHF, if fails of severe, consider AAF

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43
Q

How should cow’s milk be re-introduced to children with CMPA?

A

In hospital due to risk of anaphylaxis

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44
Q

What is Niemann-Pick disease?

A

lysosomal storage disorder caused by the deficiency of the enzyme sphingomyelinase

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45
Q

What is Lennox-Gastaut syndrome?

A

A seizure disorder characterised by epileptic seizures, psychomotor delay, low IQ, and behavioural disorders

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46
Q

Which EEG pattern is found in Lennox-Gastaut Syndrome?

A

Slow spike-wave complexes in inter-ictal period

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47
Q

What is the gold-standard investigation for primary ciliary dyskinesia?

A

Bronchial brush biopsy

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48
Q

What PEFR suggests a moderate exac of asthma?

A

50-70%

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49
Q

What PEFR suggests a severe exac of asthma?

A

33-50 %

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50
Q

What PEFR suggests a life-threatening exac of asthma?

A

< 33%

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51
Q

A child being too breathless to feed/talk suggests which severity of asthma exac?

A

Severe

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52
Q

What are the signs of a life-threatening asthma exac?

A

SpO2 < 92%
PEFR < 33%
Silent chest
Cyanosis
Exhaustion
Confusion/ reduced GCS
Poor resp effort

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53
Q

What are the RR cut offs for differentiating moderate and severe exac of asthma?

A

RR 30 in over 5s
RR 40 in under 5s

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54
Q

What are the HR cut offs for differentiating moderate and severe exac of asthma?

A

HR 125 in over 5s
HR 140 in under 5s

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55
Q

What is the step-wise asthma management for under 5s?

A

SABA then ICS or LTRA then one not tried

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56
Q

What is the step-wise management for asthma in over 5s?

A

SABA then LS ICS then LABA

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57
Q

What are the 3 shunts of foetal circulation?

A

Ductus venosus
Ductus arteriosus
Foramen ovale

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58
Q

Where does the ductus arteriosus join?

A

PA to descending aorta

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59
Q

Ductus arteriosus patency is promoted by…

A

Prostaglandin E2

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60
Q

Give examples of acyanotic heart lesions.

A

ASD, VSD, PDA, coarctation

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61
Q

Which congenital cardiac defect is associated with foetal alcohol syndrome?

A

ASD

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62
Q

What is the immediate treatment for hereditary angioedema?

A

C1 esterase inhibitor concentrate

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63
Q

What is the treatment for chlamydial conjunctivitis in a neonate?

A

Oral erythromycin

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64
Q

Unable to abduct eye with retraction on adduction suggests..

A

Duane Syndrome

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65
Q

ITP and coombs-positive haemolytic anaemia suggests…

A

Evan’s Syndrome

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66
Q

What are the 4 characteristic features of Tetralogy of Fallot?

A

VSD
RVH
RV obstruction/pulm stenosis
Overriding aorta

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67
Q

‘Boot-shaped heart’ on CXR suggests…

A

TOF

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68
Q

Cyanosis soon after birth, worse on feeding with systolic ejection murmur L sternal edge suggests…

A

TOF

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69
Q

How is TOF managed?

A

PGE1 and surgical repair

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70
Q

What is required for TGA to be compatible with life?

A

ASD/VSD/AVSD

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71
Q

How is TGA managed?

A

PGE1, can use balloon atrial septostomy, definitive = surgery

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72
Q

Which surgery is used to correct TGA?

A

Rastelli procedure

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73
Q

Truncus arteriosus is most commonly associated with which genetic syndrome?

A

DiGeorge Syndrome

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74
Q

Which type of ASD is more common?

A

Ostium secundum

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75
Q

Systolic ejection murmur with fixed splitting of S2 suggests…

A

ASD

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76
Q

Which ASDs may close spontaneously?

A

< 5mm

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77
Q

How may a VSD present?

A

asymptomatic, FTT, HF

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78
Q

Child with HF and pansystolic murmur L lower sternal edge suggests….

A

VSD

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79
Q

Which genetic syndromes are associated with VSD?

A

Trisomies and Noonan Syndrome

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80
Q

‘Blowing apex murmur’ suggests…

A

AVSD

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81
Q

‘Continuous machine-like murmur’ suggests…

A

PDA

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82
Q

How is PDA managed?

A

Term - surgery
Pre-term - usually Ibuprofen +/- surgery

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83
Q

What is the main complication of PFO?

A

Stroke in later life

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84
Q

Coarctation of the aorta is most associated with which genetic syndrome?

A

Turner Syndrome

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85
Q

Weak femoral pulses suggests…

A

Coarctation

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86
Q

‘Rib notching’ on CXR suggests…

A

Coarctation

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87
Q

What are the main complications of coarctation?

A

LVH, HTN and aneurysm

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88
Q

Baby born at 28 weeks with resp distress, CXR shows ground-glass appearance suggests…

A

RDS

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89
Q

Resp distress in term infant born by C-section suggests…

A

TTN

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90
Q

What are the main complications of congenital diaphragmatic hernia?

A

Pulmonary HTN/hypoplasia which persists following surgery

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91
Q

Which children with UTI should receive an acute USS?

A

Atypical UTI - non-EColi organism, sepis, AKI, failure to respond within 48h

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92
Q

What is the earliest age that weaning should be tried?

A

17 weeks (around 4 months)

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93
Q

What is the Somogyi effect?

A

Child experiences night-time hypoglycaemia with rebound hyperglycaemia

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94
Q

How is central precocious puberty treated?

A

GnRH agonist (to down regulate FSH/LH)

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95
Q

Faltering growth, hypoK, hypophosphatemia, metabolic acidosis and high urinary pH suggests…

A

Cystinosis

96
Q

How is mid-parental height calculated?

A

Add 7cm to mean of parental heights for male children, subtract 7cm for females

97
Q

Which electrolyte abnormalities are found in Addison’s disease?

A

Low Na, high K

98
Q

Give causes of ambiguous genitalia.

A

CAH
Klinefelter Syndrome
Androgen insensitivity syndrome
5-alpha reductase deficiency

99
Q

What is CAH?

A

Group of conditions affecting cortisol biosynthesis

100
Q

What is the most common enzyme deficiency in CAH?

A

21-hydroxylase deficiency

101
Q

What hormone profile would be present in Klinefelter’s?

A

Raised LH, low testosterone

102
Q

What does 5-alpha reductase do?

A

Converts testosterone to DHT which drives development of male genitalia

103
Q

How is 5-alpha reductase deficiency inherited?

A

AR

104
Q

What is the test of choice for 5-alpha reductase deficiency?

A

Testosterone/DHT ratio following HCG administration

105
Q

What is the average age of female puberty starting?

A

11

106
Q

What are the main sequence of events in female puberty?

A

Breast development
Height spurt
Pubic hair
Menarche

107
Q

What is the average age of female growth spurt?

A

12

108
Q

What is the first sign of female puberty?

A

Breast development

109
Q

What is the first sign of male puberty?

A

Testicular growth

110
Q

What is the average age of onset of male puberty?

A

12

111
Q

What is the average age of the male height spurt?

A

14

112
Q

What are the main sequence of events in male puberty?

A

Increase testicular volume
Increased penis length
Pubic hair
Facial hair

113
Q

What is meant by precocious puberty?

A

Dev of secondary sexual characteristics < 8 in girls or < 9 in boys

114
Q

What is the cause of central precocious puberty?

A

Premature HPG axis activation

115
Q

What is the hormone profile in central precocious puberty?

A

Raised LH/FSH

116
Q

What is the hormone profile in peripheral precocious puberty?

A

Low LH/FSH

117
Q

How is central precocious puberty treated?

A

GnRH agonists

118
Q

Give causes of central precocious puberty.

A

Idiopathic
Obesity
NF
Hypothyroidism

119
Q

What is the most common cause of peripheral precocious puberty?

A

CAH

120
Q

What is meant by delayed puberty?

A

No breast development by 13 or testicular volume < 4ml by 14

121
Q

What is meant by primary amenorrhoea?

A

No periods by age 16

122
Q

What is the most common cause of delayed puberty?

A

Constitutional

123
Q

Give central causes of delayed puberty.

A

Consitutional, neglect, anorexia, chronic disease, tumours, kallman syndrome

124
Q

Delayed puberty and anosmia suggests…

A

Kallman Syndrome

125
Q

Give peripheral causes of delayed puberty.

A

PCOS
Androgen insensitivity syndrome
Turner’s / Klinefelter’s

126
Q

What is the hormone profile in Kallman Syndrome?

A

Low FSH/LH/testosterone

127
Q

How is Kallman Syndrome inherited?

A

X-linked recessive

128
Q

46XY with female phenotype suggests…

A

Androgen insensitivity syndrome

129
Q

What is the management for Kallman Syndrome?

A

Oestrogen therapy and bilateral orchidectomy

130
Q

Long-standing proteinuria and hypocomplementaemia suggests…

A

Membranoproliferative GN

131
Q

Neonate with cataracts and hepatomegaly suggests…

A

Galactosaemia

132
Q

Galactosaemia is an inability to metabolise…

A

Galactose and lactose

133
Q

What is the genetic basis for galactosaemia?

A

AR - due to mutation in G1P UDT gene on chromosome 9

134
Q

Which Vitamin deficiency is common in Hartnup disease?

A

Vit B3 (Niacin)

135
Q

Child with FTT, photosensitivity and increased amino acids in urine suggests…

A

Hartnup disease

136
Q

Which enzyme is deficient in homocystinuria?

A

cystathionine beta synthase

137
Q

What kind of habitus is common in homocystinuria?

A

Marfinoid

138
Q

How is homocystinuria inherited?

A

AR

139
Q

Ashkenazi Jewish boy with neurological symptoms, hepatosplenomegaly and pancytopaenia suggests…

A

Gaucher syndrome

140
Q

What is the genetic basis for Gaucher’s disease?

A

AR - mutation in GBA1 gene

141
Q

Which enzyme is deficient in Gaucher Syndrome?

A

Glucocerebrosidase

142
Q

Ashkenazi Jewish child with progressive neurological disorder suggests…

A

Tay-Sachs disease

143
Q

Which enzyme is deficient in Tay-Sachs disease?

A

Hexosaminidase A

144
Q

What is the genetic basis for Niemann-Pick disease?

A

AR - mutations in SMPD1 gene

145
Q

Which enzyme is deficient in Niemann-Pick disease?

A

Sphingomyelinase

146
Q

Child with neuro features, hepatosplenomegaly and cherry red spot on macula suggests…

A

Niemann-Pick disease

147
Q

Angiokeratomas, peropheral neuropathy and renal failure suggests…

A

Fabry disease

148
Q

How is Fabry disease inherited?

A

X-linked

149
Q

Fabry disease occurs due to deficiency of…

A

Alpha-galactosidase A

150
Q

Lesch-Nyan Syndrome results in over production/accummulation of…

A

Uric acid

151
Q

Child with neurological features, megaloblastic anaemia and self-injurious behaviour suggests…

A

Lesch-Nyan Syndrome

152
Q

Neonate with hypoglycaemia / hepatic encephalopathy who did not have guthrie test suggests…

A

MCADD

153
Q

How is PKU inherited?

A

AR

154
Q

Which enzyme is deificent in PKU?

A

Phenylalanine hydroxylase

155
Q

Child with fair hair and blue eyes, developmental delay and musty odour to urine and sweat suggests…

A

PKU

156
Q

IVA results in an inability to break down…

A

Leucine

157
Q

What is the main complication of GA1?

A

Brain damage, esp basal ganglia

158
Q

Low Ca, low PTH suggests…

A

Hypoparathyroidism

159
Q

Low Ca, high PTH suggests…

A

Vit D deficiency or pseudohypoparathyroidism

160
Q

Low Ca, high PTH/phosphate and normal Vit D suggests…

A

pseudohypoparathyroidism

161
Q

Pseudohypoparathyroidism may be associated with…

A

Albright’s Hereditary Osteodystrophy

162
Q

Child with bow legs, impaired growth and generalised bone pain suggests…

A

Rickets / Vit D deficiency

163
Q

Young child with rickets and prominent frontal bossing suggests…

A

X-linked hypophosphataemic rickets

164
Q

What is the H Pylori eradication Tx in children?

A

One week PPI + Amoxicillin + Clarithromycin

165
Q

At what age does diabetic eye screening commence for children with T1DM?

A

12

166
Q

Large volumes of cow’s milk should not be offered to children of what age?

A

< 1 year

167
Q

Lisch nodules are associated with…

A

NF

168
Q

What is typically the first-line treatment for children with generalised epilepsy?

A

Na valproate

169
Q

What is typically the first-line treatment for children with focal epilepsy?

A

Carbamazepine

170
Q

At what age do febrile convulsions tend to occur?

A

6 months - 5 years

171
Q

Is there evidence for regular antipyretics to prevent febrile convulsions?

A

No

172
Q

What is the risk of future febrile convulsion if a child has had one previously?

A

1 in 3

173
Q

What is the risk of epilepsy if a child has had a febrile convulsion with no additional risk factors?

A

2.5%

174
Q

Which factors may provoke absence seizures?

A

Hyperventilation or stress

175
Q

What is the treatment of choice for absence seizures?

A

Na valproate or ethosuximide

176
Q

What is the EEG appearance in absence seizures?

A

Bilateral symmetrical 3Hz spike & wave pattern

177
Q

Repeated spasms involving flexion of the head/trunk/limbs in first few months of life suggests…

A

Infantile spasms / West syndrome

178
Q

What is the first-line treatment for infantile spasms?

A

Vigabitran

179
Q

EEG hypsarrythmia suggests…

A

Infantile spasms

180
Q

Atypical absence seizures, falls, jerks and mental hadicap suggests…

A

Lennox-Gastaut Syndrome

181
Q

What is the EEG pattern in Lennox-Gastaut Syndrome?

A

Slow-spike

182
Q

Unilateral facial sensiromotor symptoms with oropharyngeal involvement suggests…

A

Benign rolandic epilepsy

183
Q

What is the first-line treatment for benign rolandic epilepsy?

A

Carbamazepine

184
Q

What is the EEG pattern in benign rolandic epilepsy?

A

Centrotemporal spikes

185
Q

Teenage girl with jerky movements in am and generalised seizures suggests…

A

Juvenille myoclonic epilepsy

186
Q

What is the treatment of choice for juvenille myoclonic epilepsy?

A

Valproate / Lamotrigine

187
Q

What is the recommended follow-up for children with T1DM?

A

Three-monthly appts with secondary care team

188
Q

Which obese children may be offered orlistat?

A

All other measures underway
Either: orthopaedic issues, OSA or severe psych co-morbidities

189
Q

Which anti-TB agent can cause red urine?

A

Rifampicin

190
Q

What are the aims of treating precocious puberty?

A

Reverse sexual development & stop rapid growth (prevent short stature in adulthood)

191
Q

What is meant by morphoea?

A

Localised scleroderma

192
Q

Which structure may a fast-growing pituitary tumour compress?

A

Optic chiasm

193
Q

What is the diagnostic test for CO poisoning?

A

Exhaled breath test

194
Q

Which hormone is raised in anorexia?

A

Cortisol

195
Q

How should a hypercyanotic spell be managed in TOF?

A

positional manoevres (knees to chest), oxygen, fluid bolus

196
Q

Which anti-TB agent can affect eyesight?

A

Ethambutol

197
Q

What is the inheritance of alport syndrome?

A

X-linked dominant

198
Q

Distal renal tubular acidosis is caused by…

A

Impaired H+ excretion in distal tubule –> unable to acidify urine

199
Q

Urine pH > 5.5 suggests…

A

Distal renal tubular acidosis

200
Q

Proximal renal tubular acidosis occurs due to…

A

Defective bicarbonate reabsorption

201
Q

What is the duration of Abx for a simple UTI in children?

A

3 days

202
Q

Which children with UTI require imaging?

A

< 6 months, atypical or recurrent infection

203
Q

Which features suggest atypical UTI?

A

Non-E Coli organism
Sepsis
AKI
Failure to respond to Abx within 48h etc

204
Q

What is the most common cause of nephrotic syndrome in children?

A

Minimal change disease

205
Q

Fusion of podocytes on biopsy suggests…

A

Minimal change disease

206
Q

What is the prognosis for minimal change disease?

A

1/3 never recur, 1/3 recur once, 1/3 recur frequently/progress

207
Q

What is the main Tx for minimal change disease?

A

Steroids

208
Q

What are the most common causes of nephritic syndrome in children?

A

IgA nephropathy / post strep GN

209
Q

What are the components of a ketogenic diet?

A

High fat, normal protein, low carb

210
Q

Which hormone/neurotransmitter is raised in a carinoid tumour?

A

Serotonin

211
Q

What is the main complication of abruptly stopping TPN?

A

Hypoglycaemia

212
Q

Bruising in which areas is suspicious for NAI?

A

Buttocks, trunk, genitals, ears, back of hands

213
Q

What distribution of burn is suspicious for NAI?

A

Glove and stocking

214
Q

Which fractures may be suspicious for NAI?

A

Bucket handle, spiral, bilat long bone, sternum, scapula, multiple rib #

215
Q

‘tropia’ suggests…

A

manifest squint

216
Q

‘phoria’ suggests…

A

latent squint

217
Q

Where is the eye in exotropia?

A

Turned out

218
Q

Where is the eye in esotropia?

A

Turned in

219
Q

Neonate with hypoxia, SOB, acidosis and weak/absent pulses within 48h suggests…

A

HLHS

220
Q

What is meant by Vit D dependent rickets?

A

Unable to maintain adequate Vit D despite dietary intake

221
Q

Intractable diarrhoea in first few hours/days of life suggests…

A

Apical microvillus atrophy

222
Q

What is the purpose of giving 100% O2 in pneumothorax?

A

Encourages Nitrogen washout –> increased resorption

223
Q

What imaging is included in a standard skeletal survey?

A

Multiple XRs and CTH only

224
Q

What are the key features of hyperK on ECG?

A

Tented T waves, PR/QRS prolongation

225
Q

Diplopia worse on downward gaze suggests…

A

Trochlear nerve palsy

226
Q

What is meant by pollakiuria?

A

Functional need to empty bladder, most common age 4-6

227
Q

Which chemotherapy agent(s) are associated with haemorrhagic cystitis?

A

Alkylating agents eg. Platinums

228
Q

Which chemo agent is most associated with cardiomyopathy?

A

Doxorubicin

229
Q

Which chemo agent is most associated with peripheral neuropathy?

A

Vincristine

230
Q

What is the main Tx for Kawasaki disease?

A

Aspirin and Immunoglobulins

231
Q

Which anatomical site is most commonly affected in UC in children?

A

Entire colon (90% have pancolitis)

232
Q

What is the energy content of breastmilk?

A

~ 70 kcals/100mls

233
Q

If introduced too quickly, calorie dense feeds may cause which electrolyte abnormality?

A

Hypernatraemic dehydration

234
Q

What is the pseudomonas eradication therapy for children with CF?

A

Oral cipro and nebulised colistamethate sodium

235
Q

What are the glucose thresholds for diagnosing diabetes?

A

Fasting > 7 or random > 11.1M

236
Q

Murmur left upper sternal edge which radiates to the back suggests…

A

Pulmonary stenosis

MRCPCH (11 decks)

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