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1
Q

What are the features of congenital cytomegalovirus?

A
  • Growth retardation
  • Purpuric skin lesions
  • Sensorineural deafness
  • Seizures
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2
Q

What are the features of congenital rubella?

A
  • Sensorineural deafness
  • Congenital cataracts
  • PDA
  • Purpuric skin lesions
  • Salt and pepper chorioretinitis
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3
Q

When is bicuspid aortic valve usually seen?

A

Turner’s syndrome

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4
Q

What are some features of Turner’s syndrome?

A
  • Short stature
  • Shield chest-> widely spaces nipples
  • Webbed neck
  • Bicuspid aortic valve
  • Coarctation of the aorta
  • Primary amenorrhoea
  • Cystic hygromas
  • Lymphoedema in neonates
  • High-arched palate
  • More common-> hypothyroidism, horseshoe kidney, AI disease, Crohn’s
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5
Q

How does chicken pox present?

A
  • Fever
  • Itchy rash-> starts on head/trunk then spreads
  • Macular then papular than vesicular
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6
Q

How does measles present?

A
  • Prodrome-> irritable, fever, conjunctivitis
  • Koplik spots-> on buccal mucosa
  • Rash-> behind ears then whole body, maculopapular
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7
Q

How does mumps present?

A
  • Fever, malaise, myalgia

- Parotitis-> unilateral then bilateral (70%)

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8
Q

How does rubella present?

A
  • Rash-> face then whole body, pink maculopapular, fades by day 3-5
  • Lymphadenopathy-> suboccipital + postauricular
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9
Q

How does erythema infectiosum present?

A
  • AKA slapped cheek syndrome
  • Lethargy, fever, headache
  • ‘Slapped cheek’ rash then spreads to proximal arms + extensor surfaces
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10
Q

What causes erythema infectiosum?

A
  • Slapped cheek syndrome

- Parvovirus B19

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11
Q

What causes scarlet fever?

A
  • Group A haemolytic strep-> erythogenic toxins

- Eg strep pyogenes

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12
Q

How does scarlet fever present?

A
  • Fever, malaise, tonsillitis
  • Strawberry tongue
  • Rash-> fine punctuate erythema, spares area around mouth, ‘sand paper’ on flexural areas
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13
Q

How does hand, foot + mouth disease present?

A
  • Sore throat
  • Fever
  • Vesicles in mouth + palms + soles of feet
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14
Q

What causes hand, foot + mouth disease?

A

Coxsackie A16

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15
Q

What are some clinical features of Down’s syndrome?

A
  • Upslanting palpebral fissures
  • Epicanthic fold
  • Brushfield spots in iris
  • Small, low set ears
  • Flat occiput
  • Single palmar crease
  • Sandal gap between big + first toe
  • Hypotonia
  • Duodenal atresia
  • Hirschprung’s
  • Congenital heart defects
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16
Q

What congenital heart defects are common in Down’s syndrome?

A
  • Endocardial cushion defects (AV septal canal)
  • VSD
  • ASD
  • ToF
  • PDA
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17
Q

What are some complications of Down’s syndrome?

A

-Duodenal atresia
-Hirschprung’s
-Congenital heart defects
-Subfertility
-Learning difficulties
-Short stature
-Recurrent resp infections
-Glue ear
-ALL
-Hypothyroisism
-Alzheimer’s
Atlantoaxial instability

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18
Q

What is chondromalacia patellae?

A
  • Softening in cartilage of patella
  • Teenage girls
  • Anterior knee pain when walking up + down stairs
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19
Q

What is Osgood-Schlatter disease?

A
  • Tibial apophysitis
  • Sporty teens
  • Pain/tender/dwollen tibial tubercle
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20
Q

What is osteochondritis dissecans?

A
  • Intermittent swelling + locking

- Pain after exercise

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21
Q

What is patellar subluxation?

A
  • Lateral subluxation of patella
  • Medial knee pain
  • Can give way
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22
Q

What is patellar tendonitis?

A
  • Chronic anterior knee pain
  • Worse after running
  • Tender below patella on examination
  • More common in athletic teen boys
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23
Q

What are the features of Patau syndrome (trisomy 13)?

A
  • Microcephaly
  • Small eyes
  • Cleft lip/palate
  • Polydactyly
  • Scalp lesions
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24
Q

What are the features of Edward’s syndrome (trisomy 18)?

A
  • Micrognathia
  • Low-set ears
  • Rocker bottom feet
  • Overlapping of fingers
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25
Q

What are the features of fragile X?

A
  • LDs-> autism more common
  • Macrocephaly
  • Long face
  • Large ears
  • Macro-orchidism
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26
Q

What are the features of Noonan syndrome?

A
  • Webbed neck
  • Pectus excavatum
  • Short stature
  • Pulmonary stenosis
  • Normal karyotype
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27
Q

What are the features of Pierre-Robin syndrome?

A
  • Micrognathia
  • Posterior displacement of tongue-> upper airway obstruction
  • Cleft palate
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28
Q

What are the features of Prader-Willi syndrome?

A
  • Hypotonia
  • Hypogonadism
  • Obesity
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29
Q

What are the features of William’s syndrome?

A
  • Short stature
  • LDs
  • Friendly + extroverted
  • Elfin facies
  • Strabismus
  • Broad forehead
  • Transient neonatal hypercalcaemia
  • Supravalvular aortic stenosis
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30
Q

What chromosome defect causes cystic fibrosis?

A

Chromosome 7

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31
Q

What causes threadworms?

A

Enterobius vermicularis

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32
Q

How are threadworms managed?

A

Single dose mebenazole + hygiene measures for all members of the household

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33
Q

Which conditions have an X-linked recessive pattern?

A
  • Duchenne muscular dystrophy
  • Haemophilia
  • G6PD deficiency
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34
Q

Which conditions have an autosomal recessive pattern?

A
  • Cystic fibrosis
  • Sickle cell anaemia
  • Haemochromatosis
  • Gilbert’s syndrome
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35
Q

What inheritance pattern do the majority of genetic conditions have?

A

Autosomal dominant

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36
Q

How does homocystinuria present?

A
  • Young adult
  • Lens dislocation
  • Tall
  • Arachnodactyly
  • LD
  • DVT
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37
Q

How is Duchenne muscular dystrophy diagnosed?

A

Genetic testing

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38
Q

How does Duchenne muscular dystrophy present?

A
  • Wasting + weakness of calf muscles

- Positive Gower’s test-> walk arms up legs to get up from floor

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39
Q

Most common cause of arrest in children?

A

Respiratory-> hypoxia

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40
Q

When are hypospadias surgically corrected?

A

Around 12 months of age

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41
Q

What is a side effect of methylphenidate?

A

Stunted growth

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42
Q

What medication can be used in ADHD?

A

Methylphenidate

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43
Q

What imaging is used in slipped upper femoral epiphysis (SUFE)?

A

Plan X-ray of both hips (AP + frog legs view)

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44
Q

What is a poor prognostic factor for congenital diaphragmatic hernia?

A

Liver in thoracic cavity

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45
Q

How does roseola infantum present?

A
  • High fever for a few days
  • Then maculopapular rash
  • Febrile convulsions
  • Diarrhoea
  • Cough
  • Can progress to aseptic meningitis or hepatitis
  • Often age 6 months to 2 years
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46
Q

What causes roseola infantum?

A

Human Herpes Virus 6

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47
Q

What is cryptorchidism?

A

Undescended testes

48
Q

What should be done when a child presents with acute limp + fever?

A

Refer urgently for same day assessment-> may need to exclude septic arthritis

49
Q

How does retinoblastoma present?

A
  • Absent red reflex
  • White pupil (leukocoria)
  • Strabismus
  • Visual problems
50
Q

What is the prognosis for retinoblastoma?

A

90%+ survive to adulthood

51
Q

What is gastroschisis?

A

Congenital defect in anterior abdominal wall just lateral to umbilical cord

52
Q

How is gastroschisis managed?

A
  • Vaginal delivery if possible

- Immediate repair (within 4 hours)

53
Q

What is exomphalos (omphalocoele)?

A

Abdominal contents protrude through anterior abdo wall-> covered in amniotic sac (amniotic membrane + peritoneum)

54
Q

How is exomphalos (omphalocoele) managed?

A
  • C-section

- Staged repair

55
Q

What is the most common cause of nappy rash?

A

Irritant dermatitis

56
Q

What are the features of an innocent murmur?

A
  • Soft
  • Systolic
  • Short
  • Symptomless
  • Standing/sitting-> vary with position
57
Q

What is used to promote duct closure in PDA?

A

Indomethacin or ibuprofen

58
Q

How does necrotising enterocolitis present?

A
  • Feeding intolerance
  • Abdo distention
  • Bloody stools
  • Bilious vomiting
  • Later-> abdo discolouration, perforation, peritonitis
59
Q

What are the abdominal X-ray signs of necrotising enterocolitis?

A
  • Dilated bowel loops (asymmetrical)
  • Bowel wall oedema
  • Intramural gas (pneumatosis intestinalis
  • Portal venous gas
  • Pneumoperitoneum from perforation
  • Rigler sign-> air inside + outside of bowel wall
  • Football sign-> air outlining falciform ligament
60
Q

What is the most common cause of hypothyroidism in children in the UK?

A

Autoimmune thyroiditis

61
Q

What can cause cleft palate with no other abnormalities?

A

Maternal anti-epileptic use in pregnancy

62
Q

What is the first sign of puberty in boys?

A

Testicular growth-> at about 12 years old

63
Q

How is SUFE managed?

A

Refer to ortho for in situ fixation with cannulated screw

64
Q

What is a rare but serious complication of chickenpox?

A

Necrotising fasciitis

65
Q

How does pyloric stenosis present?

A
  • More in males
  • Projectile + non-bile stained vomit
  • 4-6 weeks old
66
Q

How is pyloric stenosis diagnosed?

A
  • Test feed

- US

67
Q

How is pyloric stenosis treated?

A

Ramstedt pyloromyotomy

68
Q

How does intussusception present?

A
  • Usually 6-9 months old
  • Colicky pain
  • D+V
  • Sausage shaped mass
  • Red jelly stools
69
Q

How is intussusception managed?

A

reduction with air insufflation

70
Q

How does malrotation present?

A
  • Bile stained vomit

- Might have other pathology eg exomphalos or congenital diaphragmatic hernia

71
Q

How is malrotation diagnosed?

A
  • US

- Upper GI contrast study

72
Q

How is malrotation maganed?

A
  • Laparotomy

- Volvulus present-> Ladd’s procedure

73
Q

What is Hirschsprung’s disease?

A

Absence of ganglion cells from myenteric and submucosal plexuses

74
Q

How does Hirschsprung’s disease present?

A
  • Delayed meconium passage

- Abdominal distention

75
Q

How is Hirschsprung’s disease diagnosed?

A

Full thickness rectal biopsy

76
Q

How is Hirschsprung’s disease treated?

A
  • Rectal washouts

- Anorectal pull through procedure

77
Q

What is meconium ileus usually associated with?

A

Cystic fibrosis

78
Q

What is the main risk factor for necrotising enterocolitis?

A

Prematurity

79
Q

What causes impetigo?

A

Staph aureus or strep pyogenes

80
Q

What is the stereotypical appearance of impetigo?

A

Golden crusted skin lesions around the mouth

81
Q

How might impetigo be treated?

A
  • Hydrogen peroxide 1% cream
  • Topical fusidic acid
  • Oral flucloxacillin
82
Q

How long should children with impetigo stay off school for?

A

Until lesions are crusted and healed OR 48 hours after starting antibiotic treatment

83
Q

How are burns assessed in children?

A
  • Lund and browder chart (most accurate)

- Wallace’s rules of nines

84
Q

How does biliary atresia present?

A
  • First few weeks of life
  • Jaundice
  • Dark urine + pale stools
  • Appetite and growth disturbance
  • High conjugated bilirubin
  • Hepatomegaly
  • Raised liver transaminases
85
Q

How long should kids stay off school after developing whooping cough?

A
  • 2 days after commencing antibiotics

- OR 21 days from onset of symptoms

86
Q

How long should kids stay off school after developing roseola?

A

No need to stay off school

87
Q

How long should kids stay off school after developing slapped cheek syndrome?

A

No need to stay off school

88
Q

How long should kids stay off school after developing glandular fever?

A

No need to stay off school

89
Q

How long should kids stay off school after developing scarlet fever?

A

24 hours after starting antibiotics

90
Q

How long should kids stay off school after developing measles?

A

4 days fron rash onset

91
Q

How long should kids stay off school after developing rubella?

A

5 days from rash onset

92
Q

How long should kids stay off school after developing mumps?

A

5 days from onset of swollen glands

93
Q

How long should kids stay off school after developing scabies?

A

Until treated

94
Q

How long should kids stay off school after developing influenza?

A

Until recovered

95
Q

How long should kids stay off school after developing chickenpox?

A
  • Until all lesions crusted over

- Usually 5 days after rash onset

96
Q

What blood results does pyloric stenosis typically give?

A
  • Hypochloraemia
  • Hypokalaemia
  • Alkalosis
97
Q

How should phimosis (non-retractable foreskin) be managed?

A
  • If <2 years-> normal + resolves with time

- If >2 with recurrent infections-> consider for treatment

98
Q

What imaging should be done in SUFE?

99
Q

What imaging should be done in suspected Perthe’s disease when hip X-ray was normal?

100
Q

What is the next investigation of choice in recurrent UTIs (after US)?

A

Micturating cystography

101
Q

What is the classic presentation of juvenile idiopathic arthritis?

A
  • Joint pain + salmon pink rash

- Can also get pyrexia, lymphadenopathy, uveitis, anorexia, weight loss

102
Q

When should unilateral undescended testicle be referred?

A

Age 3 months

103
Q

What are the three findings in shaken baby syndrome?

A
  • Retinal haemorrhages
  • Subdural haematoma
  • Encephalopathy
104
Q

What would a girl with haemophilia also be likely to have?

A

Turner’s syndrome (only one X chromosome)

105
Q

What are the features of an atypical UTI?

A
  • Seriously ill
  • Poor urine flow
  • Abdominal or bladder mass
  • Raised creatinine
  • Septicaemia
  • Failure to respond to antibiotic within 48 hours
  • Non- E.coli
106
Q

When should kids be referred to paeds for their height/growth?

A

-If they are below the 0.4th centile

107
Q

When is jaundice always pathological?

A

<24 hours of life

108
Q

What is the first line investigation in suspected DDH when the patient is >4.5 months old?

109
Q

How is whooping cough managed?

A
  • Clarithromycin, azithromycin, erythromycin etc

- Within 21 days of symptom onset

110
Q

What causes whooping cough?

A

Bordetella pertussis-> gram-negative bacterium

111
Q

What is androgen insensitivity syndrome?

A

Child with XY chromosomes has ‘female’ phenotype

112
Q

How does androgen insensitivity syndrome present?

A
  • Primary amenorrhoea
  • Undescended testes-> groin swelling
  • Little pubic/axillary hair
  • Breast development
113
Q

What cardiac pathology is associated with Duchenne muscular dystrophy?

A

Dilated cardiomyopathy

114
Q

How does cephalohaematoma present?

A
  • Swelling-> bleed between periosteum + skull
  • Instrumental delivery
  • 2-3 days after delivery
  • Doesn’t cross suture lines
115
Q

How does caput succedeneum present?

A
  • Immediately after birth
  • Generalised superficial scalp oedema
  • Crosses suture lines
  • Often prolonged labour

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