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Flashcards in Paeds endo, musc, neuro, misc Deck (283)
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1

What is the most common cause of CAH?

21-hydroxylase deficiency

2

Recall the signs and symptoms of CAH

Virilisation of external genitalia
Salt-losing crisis
Tall stature

3

What is the best initial investigation to do when there are ambiguous genitalia?

USS

4

What is the confirmatory investigation used to diagnose CAH?

Raised plasma 17-alpha-hydroxyprogesterone - cannot do in a newborn

5

What sodium and potassium levels are seen in a salt losing crisis?

Hyponatraemia, hyperkalaemia

6

What is the surgical management option for CAH?

For girls there is corrective surgery at early puberty to make the genitalia look more female

7

What is the medical management for CAH?

Lifelong hydrocortisone and fludrocortisone

8

How should a salt-losing crisis be managed?

IV hydrocortisone, IV saline, IV dextrose

9

What is the 'classical triad' of symptoms in DM?

Polydipsia, polyuria, weight loss

10

Recall the diagnostic criteria for DM

1. Symptoms + fasting >7 OR random >11.1

2. No symptoms + fatsing >7 AND random >11.1

3. No symptoms + OGTT >11.1

4. HbA1c > 6.5%

11

What OGTT result is considered 'impaired' glucose tolerance?

7.8-11.1

12

What fasting glucose result is considered 'impaired' glucose tolerance?

6.1-7.0

13

Recall the 1st and 2nd line options for insulin therapy

1st line = multiple daily injection basal-bolus: injections of short-acting insulin before meals, with 1 or more separate daily injections of intermediate acting insulin or long acting insulin analogue

2nd line = continuous SC insulin infusion (pump)

14

Recall the names of 2 types of long acting insulin

Glargine, determir

15

Recall the names of 3 types of short acting insulin

Lispro, apart, glulisine

16

Why should site of SC insulin injection be regularly rotated in T1DM?

Avoidance of lipohypertrophy

17

What should cap glucose be when fasting and after meals?

Fasting: 4-7

After meals: 5-9

18

When does annual monitoring for retinopathy/ nephropathy/ neuropathy begin?

12 years

19

How is DKA managed?

1. Replace fluids: deficit + maintenance requirement
Deficit volume = weight in kg x 10 x 5% for mild-mod DKA, or 10% for severe DKA
Maintenance volume = LOWER for DKA, due to risk of cerebral oedema
<10kg = 2mls/kg/hr
10-40kg = 1ml/kg/hr
40+kg = 40mls/hr

2. After 1-2 hours, start insulin therapy - infuse at 0.05-0.1 units/kg/hour

20

What are the symptoms of HHS?

Weakness, leg cramps, visual disturbances
N+V
MASSIVE DEHYDRATION
Focal neurology

21

What is the best option for oral monotherapy in T2DM?

Metformin (biguanide)

22

What medications can be added for tx-resistant T2DM?

Sulphonylureas (eg glibenclamide)
Alpha-glucosidase inhibitors (eg acarbose)

23

Recall the 2 possible biochemical definitions of DKA

1. Acidosis + bicarb <15
2. pH <7.3 + ketones >3

24

How is DKA biochemically classified as mild/ mod/ severe?

Mild = pH <7.3, mod = <7.2. sev = <7.1

25

Recall the volume of fluid resus needed in a DKA emergency?

If shocked: 20mls/kg bolus over 15 mins

If not shocked: 10mls/kg bolus over 60 mins

26

How should fluids be replaced following the initial emergency in DKA?

Fluid deficit = 5% if mild-mod DKA, 10% if severe DKA
Deficit volume = weight x 10 x deficit%

Fluid maintenance in DKA specifically:
<10kg: 2mls/kg/hour
10-40kg: 1ml/kg/hour
40+kg: 40mls/kg/hour

27

What is the maintenance requirement of fluids in non-DKA situations?

First 10kg = 100mls/kg/day (4mls/kg/hour)

Next 10kg = +50mls/kg/day (2mls/kg/hour)

Every kg above 20kg = +20mls/kg/day (1ml/kg/hour)

28

Recall the % fluid deficit that correlates to each severity of DKA

Mild = 5%
Mod = 7%
Sev = 10%

29

Calculate the fluid requirement of a 20kg boy in DKA, with pH 7.15, who has already received a 10ml/kg bolus (200ml) over 60 mins

Calculation: (deficit x weight x 10) - initial, "shocked" bolus over 48 hours

Deficit if pH = 7.15 = 5% (7 x 20 x 10) = 1000
Initial bolus - 200: 1400-200 = 1200 over 48 hours
1200/48 = 25mls/ hour
Maintenance = (10 x 100) + (10 x 50) = 1500mls over 24 hours

30

When should insulin therapy be started in DKA?

After 1-2 hours of IV fluid replacement

31

How should insulin dose be calculated?

0.05-0.1 units/ kg/ hour

32

When should dextrose therapy be started in DKA?

When glucose is <14mmol/L

33

Recall 2 important possible complications of DKA with their symptoms

Cerebral odoema: Cushing's triad of raised ICP (bradycarida, HTN, irregular breathing)

Hypokalaemia (typically asymptomatic)

34

What is the most common cause of delayed puberty in boys?

CDGP (constitutional delay of growth and puberty)

35

Recall the parameters for referral in growth restriction

If >75th centile, only refer once it drops by >=3 centiles

If 25th-75th centile, only refer once it drops by >=2 centiles

If <25th centile, refer once centile drops by >=1 centiles

36

What is the definition of delayed puberty in males and females?

Males: no testicular development (<4mL) by age of 14 years

Females: no breast development by age 13 years or no period by age 15

37

Recall 3 causes of Constitutional Delay of Growth and Puberty

Chronic disease
Malnutrition
Psychiatric (eg depression/ AN)

38

Recall some causes of hypogonadotrophic hypogonadism

Hypothalamopituitary disorders: panhypopituitarism, intercranial tumours
Kallman's syndrome, PWS
Hypothyroidism (acquired)

39

Recall some causes of hypergonadotrophic hypogonadism (high LH ad FSH)

Congenital: cryptochidism (absence of 1 or both testes from scrotum), Kleinfelter's, Turner's

Acquired: testicular torsion, chemotherapy, infection, trauma, AI

40

How can delayed puberty be staged in boys vs girls?

Boys: Prader's orchidometer
Girls: Tanner's staging

41

What non-gonadotrophin hormones are important to measure as part of initial investigation of delayed puberty?

TSH
Prolactin

42

Recall 2 important imaging tests that may be done in investigation of delayed puberty?

Bone age (from wrist x ray)
MRI brain

43

How should CDGP be managed?

1st line: reassure and offer observation - they have a fantastic prognosis

2nd line: short course of sex hormone therapy
Boys: IM testosterone (every 6 weeks for 6 months)
Girls: transdermal oestrogen (6 months) and cyclical progesterone once established

44

How should primary testicular/ ovarian failure be treated?

Boys: regular testosterone injections
Girls: oestrogen replacement gradually

45

What are the age parameters for 'early normal' vs precocious puberty?

Early normal: girls = 8-10, boys = 9-12

Precocious: girls = <8, boys = <9

46

What are the different causes of gonadotrophin-dependent vs gonadotrophin-independent precocious puberty?

Gonadtrophin-DEPENDENT: often idiopathic, but may be due to CNS tumours

Gonadotrophin-INDEPENDENT: gonadal activation independent of HPG- may be due to ovarian (folllicular cyst, granuloma cell tumour, Leydig cell tuour, gonadoblastoma), or testicular pathology

47

What is premature thelarce?

Isolated breast development before 8 years

48

What does BL enlargement of the testicles indicate before puberty?

Gonadotrophin-dependent precocious puberty (intercranial lesion, ie optic glioma in NF1)

49

What does UL enlargement of a testicle indicate pre-puberty?

Gonadal tumour

50

What does small testes and precocious puberty indicate?

Tumour of CAH (adrenal cause)

51

What is the gold standard investigation for precocious puberty?

GnRH stimulation test

52

If CAH is suspected, what test should be done?

Urinary 17-OH progesterone

53

What is the medical treatment for precocious puberty?

GnRH agonist + GH therapy if gonadotrophin-dependent

If gonadotrophin-independent: -
Testotoxicosis: ketoconazole/ cyproterone
CAH: hydrocortisone + GnRH agonist

54

What are the 2 most common causes of dwarfism?

Achondroplasia

Hypochondroplasia

55

What is the phenotype of achondroplasia?

Arms and legs short, normal length thorax

56

What is the phenotype of hypochondroplasia

Small stature, micromelia (small extremities), large head

57

What gene mutation is associated with achondroplasia and hypochondroplasia?

FGFR3 - autosomal dominant mutation

58

Recall some signs and symptoms of osteogenesis imperfecta

Blue sclera, short stature, loose joints, hearing loss, breathing problems

59

Other than short stature, what are the symptoms of achondroplasia?

Hydrocephalus, depression of nasal bridge, marked lumbar lordosis, trident hands

60

What X ray findings may be present in achondroplasia?

Chevron deformity: metaphyseal irregularity

Flaring in long bones

61

Recall 4 possible causes of cogenital hypothyroidism, and whether they are inherited or not

Thyroid gland defects (eg missing, ectopic) - not inherited

Disorder of thyroid hormone metabolism - inherited

Hypothalamopituitary dysfunction (eg tumours, ischaemic damage) - not inherited

Transient hypothyroidism (eg due to maternal carbimazole or Hashimotos, not inherited)

62

Recall some signs and symptoms of congenital hypothyroidism including 3 unique symptoms

Unique: coarse features, macroglossia, umbilical hernia

Others: large fontanelles, low temp, jaundice, hypotonia, pleural effusion, short stature, oedema, etc

63

How should congenital hypothyroidism be investigated and treated in an infant?

Pretty much the same as an adult

64

What is the most common cause of acquired primary hypothyroidism?

Hashimoto's autoimmune thyroiditis

65

Recall 2 genetic risk factors for hashimoto's thyroiditis?

Down's, Turner's

66

What is the prognosis of growth for children with primary hypothyroidism?

Dw they can catch up :-)

67

What are the signs and symptoms of hyperthyroidism in the foetus?

High CTG trace and foetal goitre on USS

68

What are the signs and symptoms of hyperthyroidism in the neonate?

Same as adult

69

What is the medical management of hyperthyroidism?

Carbimazole/ propothiouracil for 2 years

70

What non-medical management options are there for hyperthyroidism in children?

Radioiodine treatment
Surgery

71

How is severe obesity, obesity and overweightness defined in children?

Severely obese: 99th centile
Obese: >95th centile
Overweight: 85th-94th centile

72

What causes impaired skeletal growth in rickets?

Inadequate mineralisation of bone laid down at the epiphyseal growth plates

73

Recall 3 deficiencies that can cause rickets?

Calcium
Vit D
Phosphate

74

What will an x ray show in Rickets?

Thickened and widened epiphysis
Cupping metaphysis
Bowing diaphysis

75

What will be the biochemical picture in rickets?

Reduced calcium and phosphate
Raised

Diagnostic = calcium x phosphate <2.4

76

How can rickets be treated?

Calcium supplements
Oral vitamin D2

77

What are the most common causes of fracture in a neonate?

Clavicle - from shoulder dystocia
Humerus/ femur - from breech delivery

78

What is the prognosis for neonatal fracture?

Great

79

How old does a child have to be prescribed codeine and morphine?

16

80

How should paediatric fractures be managed?

Pain management
Manipulation and reduction

81

How old does a child need to be to get a intramedullary nail?

4

82

What is the Ottawa ankle rule?

X ray only indicated if:

- Pain in the malleolar zone AND bone tenderness at the posterior edge/ tip of the lateral malleolus OR

- Pain in the malleolar zone AND bone tenderness at the posterior edge/ tip of the MEDIAL malleolus OR

- An inability to bear weight both immediately and in the emergency department for four steps

83

What is the Ottawa knee rule?

X ray only indicated if: age 55+ OR isolated patellar tenderness OR cannot flex to 90 degrees OR an inability to bear weight both immediately and in the ED for 4 steps

84

What is Perthe's disease?

Avascular necrosis of the femoral epiphysis from an interruption of blood supply, followed by revascularisation and reossification over 18-36 months

85

In which age group/ gender is Perthe's most common?

4-8 y/o boys

86

Recall the signs and symptoms of Perthe's

Insidious presentation: limp, knee pain, hip pain --> limb shortening

87

What investigations should be done for Perthes?

X ray +/- MRI

Roll test

88

What would an x ray show in Perthe's disease?

Increased density of femoral head

89

What is the roll test?

Patient supine, roll affected hip internally and externally --> guarding or spasm in Perthe's

90

How is Perthe's managed?

Simple analgesia for pain management<6 years: observation - non-surgical containment using splints>6 years --> surgery

91

What is Osgood Shlatter Disease?

Osteochondritis (inflammation of the cartilage/ bone) of the patellar tendon insertion at the knee

92

Recall the most at-risk group for OSD?

10-15y who are physically active

93

Recall the signs and symptoms of OSD?

Gradual onset knee pain after exercise that is relieved by rest

Localised tenderness and swelling over tibial tuberosity

Hamstring tightness

94

What might be seen on X ray in OSD?

Fragmentation of the tibial tubercle and overlying soft tissue swelling

95

How should OSD be managed?

Simple analgesic packs (intermittent)

Protective knee pads

Stretching

Reassure - this will resolve over time, but may persist until end of growth spurt

Advise stopping/ reducing all sporting activity

96

What is chondromalacia patellae?

Anterior knee pain from degeneration of articular cartilage on posterior surface of patella

97

What is the general cause of chondromalacia patellae?

Overuse in physical activity

98

Recall the signs and symptoms of chondromalacia patellae

Anterior knee pain - exacerbated by movement --> painless passive movement but pain and grating sensation on repeated extension

99

How should chondromalacia patellae be managed?

Physio

100

What is osteochondritis dissecans?

Reduced blood flow causing cracks to form in the articular cartilage and subchondral bone --> avascular necrosis --> fragmentation of bone and cartilage with free movement of fragments --> activity related joint pain

101

Recall the signs and symptoms of osteochondritis dissecans?

Pain after exercise - catching, locking and giving way

102

What is osteomyelitis?

Infection of metaphysis of long bones, commonly the distal femur and proximal tibia

103

What is the most common pathogen implicated in osteomyelitis?

Staph aureus

104

What is the most common age group affected by osteomyelitis?

<5 years

105

How does the presentation of osteomyelitis compare to the presentation of septic arthritis?

Usually chronic in onset and less severe than septic arthritis (over a week rather than a day)

106

Recall the signs and symptoms of osteomyelitis?

Fever
Acute onset limb pain, immobile limb, skin swollen, tender and erythematous

107

What investigations should be done for suspected osteomyelitis?

Septic screen
BCs and FBC
Joint aspiration and MC+S
XR --> MRI of joint (shows soft tissue)

108

How should acute osteomyelitis be managed?

High dose IV empirical --> narrow spec Abx
1st line is flucloxacillin
Take BCs before staring IV Abx
Change to oral Abx as soon as CRP is back to normal
Surgical debridement may be necessary

109

What is septic arthritis?

Infectious arthritis of the synovial joint (vs osteomyelitis of bone)

110

Which joint is affected in 75% of cases of septic arthritis?

Hip

111

What is the usual pathogen implicated in septic arthritis?

S aureus

112

Recall the signs and symptoms of septic arthritis

Single joint warm, erythematous, tender, reduced range of movement, infants will hold the limb still

113

What investigations should be done for septic arthritis?

SAME AS OSTEOMYELITIS
Septic screen
BCs and FBC
Joint aspiration and MC+S
XR --> MRI of joint (shows soft tissue)

114

How should septic arthritis be managed?

Similar to osteomyelitis but not the same

IV flucloxacillin --> oral

Joint wash out and aspirated to dryness PRN

115

What is Still's disease?

Persistent joint swelling presenting before 16 years, in the absence of infection/ other defined cause

116

What are the signs and symptoms of Still's?

May be any number of joints
Gelling (stiffness after periods of rest)
Intermittent limp
Morning joint stiffness/ pain
Limited movement

117

Recall some late signs of Still's

Inflammation and bone expansion --> 'knock knees'
Salmon-coloured rash (pathogenomic of systemic Still's)

118

What investigations should be done in suspected Still's?

Clinical diagnosis mainly
Bloods + imaging to prove classification and prognostic info
ANA, FBC, RhF, CRP/ESR, anti-CCP
USS/ MRI

119

How should Still's be managed?

MDT rheuatology
NSAIDs
Corticosteroids (high to low dose)
DMARDs - if disease fails to respond to conventional treatments - methotrexate or sulfalazine
TNF alpha inhibitors if needed

120

What is the prognosis for Still's disease?

Most children can expect good disease control and quality of life
If poor disease control --> anterior uveitis and fractures

121

What is the former name of reactive arthritis?

Reiter's syndrome

122

What are the most likely causative organisms in reactive arthritis?

Enteric bacteria - salmonella, shigella, campylobacter, yersinia

123

Recall the signs and symptoms of reactive arthritis

Transient joint swelling (<6 weeks) following an extra-articular infection
Low grade fever

124

Which joints are most typically affected by reactive arthritis?

Ankles/ knees

125

What investigations should be done in suspected reactive arthritis?

A diagnosis of exclusion as no positive findings
Bloods (CRP normal or mildly elevated)
Normal XR

126

How should reactive arthritis be managed?

Self-limting, NSAIDs will do for analgesia

127

What is SUFE?

Displacement of epiphysis of femoral head posteroinferiorly

128

Why does SUFE need prompt treatment?

To prevent avascular necrosis

129

What age group is usually affected by SUFE?

10-15 years

130

What is the biggest RF for SUFE?

Obesity

131

What are the signs and symptoms of SUFE?

Limp/ hip pain +/- referred to the knee
Insidious or acute onset
"Loss of internal rotation of a flexed hip"
Trendelenburg gait positive

132

What investigations should be done in suspected SUFE?

Hip XR in AP and frog-lateral view (both hips)

133

How should SUFE be managed?

Analgesia, bed-bound
Surgical internal fixation at growth plate

134

What is transient synovitis?

Irritable hip - 3-10 years

135

What age group is affected by transient synovitis?

3-10 years

136

What is a red flag for urgent hospital assesment in transient synovitis?

Age <3 with an acute limp

137

What is the cause of transient synovitis?

Viral infection (so causes a low grade fever)

138

How should transient synovitis be investigated and managed

Clinically - it is self-limiting

139

What is DDH?

A spectrum of conditions affecting proximal femur and acetabulum - ranging from subluxation to frank dislocation

140

What is true DDH?

Femoral head has a persistently abnormal relationship with the acetabulum--> abnormal bony development, premature arthritis and significant disability

141

What are the 2 manoevres that are key to early detection of DDH?

Barlow - dislocate posteriorly out of the hip

Ortolani - relocate back into acetabulum on hip abduction

142

What is the biggest RF for DDH?

Female

143

Recall the signs and symptoms of DDH

Limp/ abnormal

Delayed crawling/ walking - toe-walking

Asymmetrical skin folds

Limb length discrepancy

144

What age group are the Barlow and Ortolani manoevres appropriate for?

<6 months

145

What other investigation can be done alongside B and O manoevres in suspected DDH?

USS

146

What investigation should be done in children too old for B and O manoevres?

X ray

147

What are the indications for USS neonatally regardless of presentation, and when is this USS done?

Born breech OR FHx pos of DDH
Done at 6 weeks

148

How should DDH be managed in the newborn?

Pavlik harness (most will resolve spontaneously by 3-6w of age)
This keeps hips flexed and abducted

149

How should DDH be managed in those >6 months old?

Surgery if conservative measures fail or there is no progress with harness

150

What is a reflex anoxic seizure?

Episodes of tonic clonic fitting due to cardiac asystole secondary to vagal inhibition

151

What are the causes of reflex anoxic seizure?

Can be triggered by pain, head trauma, cold food (ice cream), fright, fever

152

What is a febrile convulsion?

A seizure and fever in the absence of intracranial infection

153

What is the age group that can be affected by febrile convulsions?

6m to 3y

154

What are the signs and symptoms of febrile convulsions?

Generalised tonic clonic seizure on background of fever

155

What is the difference between a simple and complex febrile seizure?

Simple: do not cause brain damage and no increased risk of epilepsy

Complex: focal, <15 mins, repeated in same illness, increased risk of subsequent epilepsy

156

What investigations should be done following a febrile seizure?

Identify and manage the cause of fever

No other main investigations (don't do an EEG)

May potentially want to screen for meningitis/ encephalitis, do a urine MC+S and blood glucose

157

How should febrile convulsion be managed during the seizure?

Protect from injury and do not restrain

If seizure lasts <5 minutes do nothing

If seizure lasts >5 mins and no drugs are available, call an ambulance

If drugs are available: after 5 mins administer PR diazepam OR buccal midazolam

158

When should an ambulance be called for febrile convulsion?

1st seizure - of any duration or cause
Seizure lasts >5 mins with no drugs
Breathing difficuties

159

Which children should be admitted to hospital following a febrile convulsion?

First febrile seizure<18 months old

Diagnostic uncertainty about the cause

Complex febrile seizure

Currently on Abx

160

What system is used to classify seizures?

International League Against Epilepsy 2017

161

What is the correct name for an absence seizure these days?

Generalised non-motor seizure

162

What is the difference in symptoms between tonic-clonic and myoclonic?

Tonic clonic is the big one with violent muscle contractions, eyes rollingback, tongue biting, incontinence and both aura and post-ictal phenomena

Myoclonic = brief arrhythmic muscular jerking movement

163

What is the most common form of childhood epilepsy?

Benign Rolandic Epilepsy - myoclonic seizures in a 3-12 year old

164

What are the 3 different types of myoclonic epilepsy

Benign rolandic (3-12y)
Juvenile myoclonic epilepsy (12-18y)
Progressive myoclonic epilepsy

165

What is the other name for benign rolandic seizures?

Sylvian seizures

166

What are the signs and symptoms of benign rolandic epilepsy?

Myoclonic seizures during sleep involving face and UL with hypersalivation

167

What are the signs and symptoms of juvenile myoclonic epilepsy?

Myoclonic seizures involving upper body just after waking up and beginning after puberty

168

What is progressive myoclonic epilepsy?

Rare syndromes of combination of myoclonc and tonic-clonic seizures, with patient deteriorating over time

169

For what type of epilepsy is treatment not usually given?

Benign Rolandic Epilepsy

170

What type of antiepileptic actually exacerbates myoclonic seizures?

Lamotrigine

171

What type of antiepileptic actually exacerbates absence seizures?

Carbamazapine

172

What is the 1st line for rescue therapy for prolonged epileptic seizures?

Buccal midazolam

173

Which antiepleptic drug requires monitoring?

Carbamazapine

174

After how long seizure-free can antiepileptic therapy be stopped?

2 years

175

Recall 2 Side effects of valporate

Weight gain, hair loss

176

How is status epilepticus defined?

1 seizure lasting >5 mins OR
>2 seizures within a 5 min period without the person returning to normal between them 1 febrile seizures lasting >30 mins

177

What is the age range of peak incidence for infantile spasm?

3-8 months

178

What is an infantile spasm?

Sudden, rapid, tonic contraction of trunk and limb muscles with gradual relaxation over 0.5-2 seconds

179

What is a 'Salaam' attack?

Head goes down and arms go up in the air

180

How should West Syndrome be investigated?

EEG - shows hypoarrhythmias

181

What is the prognosis for West syndrome?

Poor

182

How should West syndrome be managed?

Vigabatrin or corticosteroids

183

What investigations should be done for vasovagal syncope?

Lying and standing BP with ECG if indicated

FBC (to query anaemia/ bleeding)

184

What are the indications for CT head in children?

Head injury + at least 1 of:
- suspected NAI
- post-traumatic seizure
- GCS <14
- Suspected skull fracture
- Focal neurology
OR
2 other risk factors
(LOC >5 mins, abnormal drowsiness, >3 episodes of vomiting, high-impact injury, amnesia > 5 mins)

185

Give 2 signs of tear of the MMA

Battle sign
Racoon eyes

186

What are the signs and symptoms of extradural haemorrhage?

Lucid interval followed by deterioration
Potential focal neurology

187

How should extradural haemorrhage be managed?

Fluid resuscitation to correct hypovolaemia
Evacuation of haematoma and arrest bleeding

188

What is the cause of subdural haemorrhage?

Tear in vein as it crosses subdural space

189

What is the main symptom of subdural?

Gradually decreasing GCS

190

What is often the cause of subdural in infants?

NAI

191

Which infants are most at risk of intraventricular haemorrhage?

Premature babies due to VLBW

192

What are the 2 main causes of intraventricular haemorrhage in infants?

ECMO in preterm babies with ARDS
Congenital CMV infection

ECMO = extracorporeal membrane oxygenation

193

Recall the signs and symptoms of intraventricular haemorrhage

Sleepiness and lethargy, apnoea, reduced
Moro reflex, low tone, tense fontanelle

194

Which investigation is used to diagnose intraventricular haemorrhage in a baby?

Trans-fontanelle USS

195

How should intraventricular haemorrhage be treated in a baby?

Fluids
Anticonvulsant
Acetazolamide (to reduce CSF) and LP
Ventriculo-peritoneal shunt if hydrocephalus

196

What is the difference between communicating and non-communicating hydrocephalus?

Communicatig: CSF flow obstructed after it enters the ventricles
Non-communicating: flow of CSF is obstructed WITHIN the ventricles

197

What are the 2 causes of communicating hydrocephalus?

Meningitis
SAH

198

What are the possible causes of non-communicating hydrocephalus?

Aqueduct stenosis:
Congenital causes: Dandy-Walker malformation or Chiari malformation

Acquired: IVH/ tumour

199

What is the sunset sign?

Eyes appear to be driven down bilaterally - sign of raised ICP

200

What are the 2 key investigations for hydrocephalus?

Cranial USS
Measurement of head circumference

201

What is the first line management for hydrocephalus?

Ventriculoperitoneal shunt

202

What is the second line management for hydrocephalus?

Furosemide - to inhibit CSF production

203

What % of migraines have aura?

10%

204

Is migraine likely to be UL or BL?

Could be either

205

What are the symptoms of cluster headaches?

UL (eyes/ side of face) sharp throbbing pain, causing swelling/ watering inclusters

206

What are some signs that migraine is secondary to something more sinister?

Visual field defects, gait or cranial nerve abnormalities, growth failure, papilloedema, early morning headache

207

If simple analgesia doesn't work, what is the 2nd line pain med in migraines?

Nasal sumatriptan

208

Recall 2 prophylactic medications for migraine

Topiramate
Propranolol

209

What is Tourette's?

Chronic and multiple tics - starting before 18y old and persisting >1 year

210

What are the 3 types of tic?

Motor, vocal or phonic

211

Recall 2 therapies that are useful in tics

1. Habit reversal therapy (learn movements to 'compete' with tics)
2. Exposure with response prevention - help the child get used to the unpleasant feeling before a tic so that they can stop the tic occuring

212

What is the first line medication for tic disorder?

Antipsychotics - eg risperidone

213

What is the inheritance pattern of Duchenne muscular dystrophy?

x-linked recessive

214

At what age does duchenne muscular dystrophy present, and at what age can it be diagnosed?

1-3y presentation
Can be diagnosed at 5y

215

Which gene is deleted in Duchenne muscular dystrophy?

Dystrophin

216

Describe the pathophysiology of duchenne muscular dystrophy?

Dystophin gene connects cytoskeleton to muscle fibres to ECM through membrane

Where deficient --> influx of Ca --> calmodulin breakdown --> excess free radicals --> myofibre necrosis

217

What type of gait is seen in Duchenne muscular dystrophy?

Waddling

218

Other than gait, what else is affected in early DMD?

Language delay

219

What is Gower's sign?

The need to turn prone to rise - seen in DMD

220

How is the heart affected by Duchenne muscular dystrophy?

Primary dilated cardiomyopathy

221

What is elevated in the plasma in Duchenne muscular dystrophy?

CKP (creatine phosphokinase) due to myofibre necrosis

222

How should Duchenne muscular dystrophy be managed?

No cure - often management is to alleviate the symptoms
Physiotherapy to clear lungs and exercise to help prevent contractures
Medical:
- CPAP (due to weakness of intercostals)
- Glucocorticoids (to delay need for wheelchair)
- Cardioprotective drugs

223

What is the difference between Beck's MD and DMD?

Same signs and symptoms but often less severe and progresses at a slower rate

224

What is the genetic cause of myotonic muscular dystrophy?

Autosomal dominant trinucleotide repeat disorder

225

When does myotonic muscular dystrophy present?

20s to 30s

226

In what way is myotonic muscular dystrophy the reverse of duchenne muscular dystrophy?

It affects small muscles more than large muscles

227

Which form of MEN is NF1 associated with?

MEN2

228

Recall some signs and symptoms of NF1

Café au lait spots
Neurofibroma
Axillary freckles
Lisch nodule

229

What is tuberous sclerosis?

Rare genetic condition that causes mainly benign tumours to develop in different parts of the body

230

Recall 3 cutaneous features of tuberous sclerosis

"Ash leaf" patch
Shagreen patches (rough skin on lumbar spine)
Angiofibromata (butterfly facial distribution)

231

Recall some neurological features of tuberous sclerosis

Infantile spasms
Focal epilepsy
Intellectual disability (often with ASD)

232

Why is there a risk of hydrocephalus in tuberous sclerosis?

Development of subependymal giant cell astrocytoma

233

Which investigations are useful for diagnosing tuberous sclerosis?

CT/ MRI

234

What is the layman's term for the haemangioma in Sturge Weber syndrome?

Port wine stain

235

Where does the haemangiomatous facial lesion present in Sturge Weber Syndrome?

Trigeminal nerve distribution

236

Recall some signs and symptoms of Sturge Weber Syndrome

Epilepsy
Contralateral hemiplegia
Phaeochromocytoma
Intellectual disability
Glaucoma

237

How should Sturge Weber Syndrome diagnosis be confirmed?

MRI

238

What are the 3 symptoms that may present via somatisation?

Abdo pain
Reucrrent headaches
Limb pain

239

What is Apley's rule?

The further the pain is from the umbilicus, the more likely the pain is of an organic nature

240

What is the 1st line management for somatisation?

Promote communication between family and children
Pain-coping skills ie relaxation techniques for headaches

241

What should be done if 1st line treatments for somatisation fail?

Referral to CAMHS

242

Which type of developmental delay has the best prognosis?

Isolated delay (global has association with syndromes that have poorer prognosis)

243

How does the aetiology of conjunctivitis differ between children and adults?

In adults is usually viral or allergic, in children is more likely to be bacterial

244

What is the most likely cause of sticky eyes in a <48 hours neonate?

Gonorrhoea

245

What is the most likely cause of sticky eyes in a neonate in first 1-2w?

Chlamydia - often co-presents with pneumonia

246

How should neonatal gonorrhoeal infection be investigated and treated?

Gram stain and culture
3rd gen cephalosporin (eg ceftriaxone)

247

How should neonatal chlamydia infection be investigated and treated?

Immunofluorescent staining
Oral erythromycin

248

Which is more common in children out of hypermetropia and myopia?

Hypermetropia

249

What is the cause of Retinopathy of Prematurity?

Vascular proliferation leads to retinal detachment --> fibrosis and blindness

250

What is the main RF for retinopathy of prematurity?

Uncontrolled use of high concentrations of oxygen

251

What are the 2 key signs of retinopathy of prematurity?

Unusual eye movements
White pupils

252

What is the first line treatment of retinopathy of prematurity?

Laser photocoagulation

253

What is strabismus?

Abnormal alignment of eyes

254

At what age is strabismus diagnosed?

1-4 years

255

What are the 2 types of strabismus?

Non-paralytic (refractive error in one or more eyes)
Paralytic (squinting eye could be caused by motor nerve paralysis or SOL - 3rd nerve palsy)

256

How should strabismus be managed?

1st line = glasses
2nd line = eye patching
3rd line = eye drops
4th line = eye muscle surgery

257

Which burn pattern is typical of NAI?

Glove and stocking

258

Which type of long bone fracture is indicative of NAI?

Spiral fractures

259

What is the classic triad of features in shaken-baby syndrome?

1. Retinal haemorrhages
2. CT showing brain swelling/ encephalopathy
3. CT showing subdural haematoma

260

What needs to be ruled out in suspected NAI?

Leukaemia, ITP and haemophilia

261

What is the definition of SIDS?

Deaths which remain unexplained after a post-mortem

262

What is the peak age for SIDS?

2-4 months

263

Recall some important risk factors for SIDS

Front-sleeping baby
Prematurity, LBW, male, maternal smoking, microenvironment (pillow, heat)

264

For how long should parents share a room with baby?

6 months

265

Which organisation provides support for SIDS?

Lullaby Trust

266

For how long should a child be excluded from school if they have scarlet fever?

24 hours after antibiotics

267

For how long should a child be excluded from school if they have whooping cough?

48 hours after Abx

268

For how long should a child be excluded from school if they have measles?

4 days from onset of rash

269

For how long should a child be excluded from school if they have rubella?

4 days from onset of rash

270

For how long should a child be excluded from school if they have chickenpox?

Until all lesions crusted over

271

For how long should a child be excluded from school if they have impetigo?

Until all lesions crusted over

272

For how long should a child be excluded from school if they have mumps?

5 days from onset of swollen glands

273

For how long should a child be excluded from school if they have influenza?

Until recovered

274

When do fontanelle close by?

1 year usually, can be as late as 2

275

What should be given before buccal midazolam in a fitting child?

Oxygen

276

What infections are children with DiGeorge syndrome particularly at risk of and why?

Candidiasis
No thymus --> no T cells

277

Give 2 causes of evanescent salmon pink rash

Listeriosis (neonate)
Juvenile idiopathic arthritis

278

Why shouldn't metoclopramide be given to children?

Can give oculogyric crises

279

Recall 3 conditions that cause rigors in children?

Pyelonephritis
Influenza
Malaria

280

How should burns be managed medically?

Cover for potential toxic shock syndrome with ceftriaxone and clindamycin

281

How can the % of Total Burn Surface Area be measured OE?

Hand is 1% as a rough guide

282

Recall the 5 points of the Fraser guidelines

1. YP understands professional's advice
2. YP cannot be persuaded to inform parents
3. YP is likely to begin/ continue having sex regardless of contraception
4. Physical/ mental wellbeing likely to suffer from lack of contraception
5. YP's BI require them

283

What % of children who have a febrile convulsion will have one again?

33-50%