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PAEDIATRICS 2 Flashcards

1
Q

How do you diagnose necrotising enterocolitis?

A

AXR - dilated bowel loops, bowel wall oedema, pneumatosis intestinalis, pneumoperitoneum, rigler sign and football sign

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2
Q

What can cause visible peristalsis soon after feeding in a baby’s abdomen?

A

Pyloric stenosis

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3
Q

What is the most common cause of inherited neurodevelopmental delay?

A

Fragile X syndrome

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4
Q

When does cow’s milk protein allergy typically present?

A

In the first 3 months of life in formula-fed infants

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5
Q

Investigations for cows milk protein allergy?

A

Diagnosis is often clinical i.e. improvement with cows milk protein elimination
But you can do skin prick or patch testing and measure total IgE and specific IgE for cows milk protein

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6
Q

Symptoms that suggest cows milk protein allergy rather than GORD?

A

Urticaria/atopic eczema or other skin issues
Resp involvement e.g. Wheeze/chronic cough
Rare but angioedema or anaphylaxis
Bloody stools, diarrhoea
FTT or weight loss

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7
Q

Common notifiable children’s diseases?

A

Meningitis
Measles
Mumps
Rubella
Scarlet fever
Pertussis

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8
Q

What is the most common cause of ambiguous genitalia in newborns?

A

Congenital adrenal hyperplasia

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9
Q

Presentation of vesicoureteric reflux?

A

Hydronephrosis on USS in antenatal period
Recurrent childhood UTIs

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10
Q

How is vesicoureteric reflux diagnosed?

A

Micturition cystourethrogram
(DMSA scan may be done to look for renal scarring)

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11
Q

What is a micturition cystourethrogram?

A

Contrast medium is injected through a catheter to fill the bladder and XR images will be taken as the child empties their bladder

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12
Q

What is the most common type of congenital diaphragmatic hernia?

A

Left-sided posterolateral bochdalek hernia (85%)

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13
Q

What is the issue with congenital diaphragmatic hernias?

A

They cause pulmonary hypoplasia and hypertension which causes respiratory distress shortly after birth
Only 50% of newborns will survive

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14
Q

Features of rickets?

A

Aching bones/joints
Genu varum/valgum
Kyphoscoliosis
Dental problems e.g. delay in coming through or cavities
Poor growth and development
Fractures

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15
Q

Predisposing factors for rickets?

A

Deficient dietary Ca
Prolonged breastfeeding (breast milk does not contain enough vitamin D)
Unsupplementated cows milk formula (not enough vitamin D)
Lack of sunlight

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16
Q

How is pertussis diagnosed?

A

Per nasal swab culture for bordatella pertusssis - via culture, serological testing or PCR

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17
Q

What age does perthes’ disease usually occur?

A

4-8 years

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18
Q

Which gender is perthe’s disease more common in?

A

Boys - 5x more common

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19
Q

Typically… how long do d&v stop in children with gastroenteritis?

A

Vomiting lasts 1-2 days and stops within 3 days
Diarrhoea lasts 5-7 days and stops within 2 weeks

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20
Q

What are signs suggesting hypernatraemic dehydration?

A

jittery movements
increased muscle tone
hyperreflexia
convulsions
drowsiness or coma

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21
Q

In which children with gastroenteritis should you consider doing a stool culture

A

If suspecting septicaemia
Any blood or mucus in the stool
Child is immunocompromised
Recent been abroad
Diarrhoea not improved by day 7
If uncertain about diagnosis

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22
Q

What can cause hydrops Fetalis?

A

Haemolytic disease of the newborn
Twin to twin transfusion
Homozygous alpha thalassaemia
Fifth disease
Resp/cardiac disease
Chromosomal syndromes

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23
Q

Why should you never give amoxicillin or ampicillin independently for empirical therapy in children with meningitis

A

because Haemophilus influenzae type B is a common cause of meningitis in this age group and is often known to produce beta-lactamase, thus making penicillin-based antibiotics ineffective.

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24
Q

Signs suggesting pneumoniae rather than bronchiolitis?

A

High fever >39
Focal crackles on chest auscultation

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25
Give 3 examples of diseases which have genetic anticipation?
huntingtons myotonic dystrophy Fragile X syndrome
26
What is the most serious long term complication of turner syndrome?
Aortic dissection
27
Time of onset for duodenal atresia vs malrotation with volvulus in a neonate with bilious vomiting?
Duodenal atresia presents within a few hours of birth Malrotation with volvulus presents within 3-7 days after birth
28
When does meconium ileus usually present?
Within the first 24-48 hours of life
29
When after birth does NEC usually present
Second week of life
30
Causes of constipation in children?
Idiopathic - most dehydration low-fibre diet medications e.g. Opiates or sedating antihistamines anal fissure - pain over-enthusiastic potty training/child feels pressured hypothyroidism Hirschsprung's disease hypercalcaemia learning disabilities Intestinal obstruction Anorectal malformations e.g. anal stenosis Coeliac - rare more likely to cause diarrhoea cows milk protein allergy Child maltreatment
31
Diagnostic investigations for coeliac disease?
Ensure child has eaten gluten-containing foods in >1 meal a day for at least 6 weeks - anti tTG and total IgA - consider checking IgG endomysial antibiotics or IgG anti-Gliadin antibodies or IgG tTGA if evidence of IgA deficiency Refer to gastroenterologist if serology suggests diagnosis: - duodenal biopsy - may also test HLADQ2/8
32
Symptoms of coeliac?
Children often present before the age of 3 when cereals are introduced into their diet… Persistent unexplained GI symptoms e.g. reflux, diarrhoea, pain, bloating, constipation, weight loss FTT Mout ulcers Anaemia symptoms if older children Dermatitis herpetiformis - symmetrical clusters of itchy blistering skin lesions followed by erosions, excoriation and hyperpigmentation on elbows/knees/shoulders/buttocks/face
33
features of tuberous sclerosis?
depigmented ash leaf spots shagreen patches - rough patches on spine adenoma sebacaum - reddish, brown papular rash over nose subungal fibromata neuro symptoms e.g. seizures and developmental delay cafe au last spots are rarer
34
features of neurofibromatosis type 1?
cafe au lait spots axillary and groin freckles peripheral neurofibromas iris homatomas scoliosis phaeochromocytoma
35
features of neurofibromatosis type 2?
B/L vestibular schwannomas other CNS tumours
36
inheritance pattern of tuberous sclerosis and neurofibromatosis
both AD
37
what are features of Sturge-weber syndrome?
port-wine stain on forehead and eyelid region seiures hemiparesis
38
what is Von Hippel-Lindau syndrome?
a rare AD disorder that predisposes to neoplasia e.g. cerebellar haemangiomas, retinal haemangiomas, phaeocromocytoma etc
39
what causes mid systolic murmur maximal over the back, apical click and a radio-femoral delay?
coarctation of the aorta
40
what causes a continuous machinery murmur with a collapsing pulse, wide pulse pressure and heaving apex beat?
PDA
41
what causes an ejection systolic murmur with fixed splitting of S2?
ASD
42
what causes a pan systolic murmur with FTT?
VSD
43
causes of jaundice in the first 24 hours?
rhesus haemolytic disease ABO haemolytic disease hereditary spherocytosis glucose-6-phosphodehydrogenase
44
causes of prolonged jaundice?
biliary atresia hypothyroidism galactosaemia urinary tract infection breast milk jaundice prematurity congenital infections e.g. CMV, toxoplasmosis
45
features of a complex febrile convulsion?
15-30 mins focal seizure may have a repeat seizure within 24 hours
46
level of awareness I focal seizures?
can vary - focal aware, focal impaired awareness and awareness unknown
47
why does congenital diaphragmatic hernia have a big mortalty
This can result in pulmonary hypoplasia and hypertension which causes respiratory distress shortly after birth.
48
symptoms of oesophageal atresia?
choking cyanotic spells following aspiration
49
what is oesophageal atresia usually associated with?
tracheo-oesophageal fistula and polyhydramnios
50
most likely causative organism of pneumonia in children?
S. pneumonia
51
most common cause of a lung abscess in a previously well individual?
staph aureus
52
pathophys of HSP
IgA mediated small vessel vasculitis
53
features of HSP
palpable purpuric rash over buttocks and extensor surfaces of arms/legs abdominal pain polyarthritis IgA nephropahy symptoms e.g. haematuria and renal failure
54
features of encephalitis?
fever, headache, psychiatric symptoms, seizures, vomiting focal features e.g. aphasia
55
what usually causes encephalitis?
HSV1
56
which lobes are usually affected in encephalitis
temporal and inferior frontal
57
symptoms of stills disease/systemic onset juvenile idiopathic arthritis?
in children <16... arthralgia salmon, pink, maculopapular rash rash that rises in late afternoon/early evening in a daily pattern lymphadenopathy uveitis weight loss
58
most common benign bone tumour?
osteochondroma
59
most common primary malignant bone tumour?
osteosarcoma
60
types of benign bone tumours/
osteoma osteochondroma giant cell tumour
61
types of malignant bone tumours?
osteosarcoma ewings sarcoma chondrosarcoma
62
which bone tumour has onion skin appearance on XR?
Ewings sarcoma
63
which bone tumour has conman triangle and sunburst appearance on XR?
osteosarcoma
64
which bones does osteosarcoma typically affect.
metaphyseal region of long bones - 40% femur, 20% tubia, 10% humerus
65
predisposing factors for osteosarcoma?
mutation of Rb gene paget's disease of the bone radiotherapy
66
which bone tumour is associated with Gardners syndrome?
osteoma
67
which bone tumour has soap/double bubble appearance on XR?
giant cell tumour
68
symptoms of hereditary spherocytosis?
FTT jaundice and gallstones splenomegaly aplastic crisis precipitated by parvovirus infection
69
what is chvostek's sign?
tapping over parotid causes facial muscles to twitch - seen in hypocalcaemia
70
what is trousseaus sign
carpal spasm if the brachial artery occluded by inflating the blood pressure cuff and maintaining pressure above systolic - see in hypocalcaemia
71
features of congenital adrenal hyperplasia?
virilisation - females have ambiguous genitalia dehydration, hypotension, electrolyte imbalances precocious punters accelerated growth rates in children initially but short adult stature due to early epiphyseal closure hypnatraemia, hyperkalaemia and acidosis
72
what causes 90% of congenital adrenal hyperplasia cases?
21 hydroxylase deficiency
73
features of osteogenesis imperfecta?
presents in childhood... fractures following minor trauma blue sclera deafness secondary to otosclerosis dental imperfections are common
74
complications of meningitis?
sensorieneural hearing loss seizures focal neurological deficit cognitive impairment visual impairment amputations skin scars learning diffiucltiesi emotional and behavioural diffiuclties reduced QOL
75
what are brush field spots?
small grey or brown spots seen in the periphery of the iris associated with down syndrome
76
features of Duchenne muscular dystrophy?
progressive proximal muscle weakness from 5 years calf pseudohypertrophy Gower's sign 30% of patients have intellectual impairment
77
prognosis of Duchenne muscular dystrophy?
most children cannot walk by the age of 12 years patients typically survive to around the age of 25-30 years
78
when is the pertussis vaccine given in pregnancy?
16-32 weeks
79
what should you do if a child <3 presents with an acute limp?
urgent admission - transient synovitis is very rare at this age
80
why are diabetic mothers a risk factor for child respiratory distress syndrome?
as insulin inhibits surfactant production
81
typical age and gender of perthes disease?
4-8\boys
82
definition and causes of microcephaly?
OFC <2nd centile normal variant, familial, congenital infections, perinatal brain injuries, foetal alcohol syndrome, patau syndrome, craniosynostosis
83
what is phimosis? when is It considered normal?
a non-retractable foreskin which causes ballooning during micturition normal under 2 and will likely resolve over time
84
features of foetal alcohol syndrome?
short palpebral fissure hypoplastic upper lip absent philtrum learning disability microcephaly growth retardation epicanthic folds cardiac malformations
85
causes of neonatal hypotonia
sepsis Werdnig-Hoffman disease (spinal muscular atrophy type 1) hypothyroidism Prader-Willi cerebral palsy maternal drugs e.g. benzodiazepines maternal myasthenia gravis
86
what is baclofen?
a muscle relaxant ha can be used in cerebral palsy to help with painful spasticity
87
what is the most common presentation of neonatal sepsis?
respiratory distress
88
what is stills disease?
systemic juvenile idiopathic arthritis
89
what causes roseola infanum?
HHV6
90
are murmurs that vary with posture innocent or not?
innocent
91
what inheritance pattern is achondroplasia?
AD
92
risk factors for meconium aspiration syndrome?
post-term smoke or substance misuse in pregnancy maternal hypertension pre-eclampsia chorioamnionitis
93
main risk factor for achondroplasia?
advancing parental age at time of conception
94
can you be homozygous for achondroplasia
it is incompatible with life
95
blood smear findings in thrombotic thrombocytopenia purpura?
schistocytes
96
what causes TTP?
post-infection e.g. urinary, gastrointestinal pregnancy drugs: ciclosporin, oral contraceptive pill, penicillin, clopidogrel, aciclovir tumours SLE HIV
97
pathophys of TTP?
there is a deficiency of ADAMTS13 which breakdowns large multimers of von Willebrand's factor. abnormally large and sticky multimers of von Willebrand's factor cause platelets to clump within vessels
98
gastroschisis vs exomphalos
gastroschisis is when there is congenital defect in the anterior abdominal wall just lateral to the umbilical cord, it is not covered in a membrane so needs urgent correction In exomphalos (also known as an omphalocoele) the abdominal contents protrude through the anterior abdominal wall but are covered in an amniotic sac formed by amniotic membrane and peritoneum. they can be repaired in a staged manner
99
what conditions are associated with exomphalos?
Beckwith-Wiedemann syndrome Down's syndrome cardiac and kidney malformations
100

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