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Paediatrics Flashcards

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1
Q

clinical features of down syndrome

A

face: upslanting palpebral fissures, epicanthic folds, Brushfield spots in iris, protruding tongue, small low-set ears, round/flat face
flat occiput
single palmar crease, pronounced ‘sandal gap’ between big and first toe
hypotonia
congenital heart defects (40-50%, see below)
duodenal atresia
Hirschsprung’s disease

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2
Q

Cardiac complications of down syndromes

A

multiple cardiac problems may be present
endocardial cushion defect (most common, 40%, also known as atrioventricular septal canal defects)
ventricular septal defect (c. 30%)
secundum atrial septal defect (c. 10%)
tetralogy of Fallot (c. 5%)
isolated patent ductus arteriosus (c. 5%)

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3
Q

Later complications of down syndrome

A

subfertility: males are almost always infertile due to impaired spermatogenesis. Females are usually subfertile, and have an increased incidence of problems with pregnancy and labour
learning difficulties
short stature
repeated respiratory infections (+hearing impairment from glue ear)
acute lymphoblastic leukaemia
hypothyroidism
Alzheimer’s disease
atlantoaxial instability

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4
Q

Front

A

Back

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5
Q

What is cow’s milk protein intolerance or allergy?

A

An adverse reaction to cow’s milk protein that can be immediate (allergy) or delayed (intolerance), usually presenting in the first 3 months of life.

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6
Q

What are the symptoms of cow’s milk protein intolerance or allergy?

A

Regurgitation, vomiting, diarrhoea, urticaria, atopic eczema, colic (irritability and crying), wheeze, chronic cough, and rarely angioedema or anaphylaxis.

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7
Q

How is cow’s milk protein intolerance or allergy diagnosed?

A

Usually clinically through improvement with elimination of cow’s milk protein. Tests may include skin prick testing, skin patch testing, and total or specific IgE blood tests.

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8
Q

How is cow’s milk protein intolerance or allergy managed in formula-fed infants?

A

Use extensively hydrolysed formula first-line for mild to moderate symptoms. Use amino acid-based formula for severe symptoms or if no response to hydrolysed formula. About 10% of infants are also intolerant to soya milk.

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9
Q

How is cow’s milk protein intolerance or allergy managed in breastfed infants?

A

Continue breastfeeding while eliminating cow’s milk protein from the maternal diet. Prescribe calcium supplements to the mother. Use extensively hydrolysed formula when breastfeeding stops, up to 12 months of age and for at least 6 months.

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10
Q

What is the prognosis for cow’s milk protein intolerance or allergy?

A

Most children outgrow it. About 55% of children with IgE-mediated allergy tolerate milk by age 5, while most with non-IgE-mediated intolerance tolerate milk by age 3. Milk challenges are done in hospital due to the risk of anaphylaxis.

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11
Q
A
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12
Q

Caput Succedaneum

A

swelling on head of newborn
present at birth
typically over the vertex and crosses the sutures
resolves within days

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13
Q

cephalohaematoma

A

swelling on the head of new born
typically develops several hours after birth
more common in parietal region and doesnt cross the suture lines
takes months to resolve

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14
Q
A
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15
Q

what is kawasaki disease

A

type of vasculitis seen predominantly in children

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16
Q

complication of kawasaki disease

A

coronary artery aneurysms

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17
Q

features of kawasaki disease

A

high-grade fever which lasts for > 5 days. Fever is characteristically resistant to antipyretics
conjunctival injection
bright red, cracked lips
strawberry tongue
cervical lymphadenopathy
red palms of the hands and the soles of the feet which later peel

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18
Q

management of kawasaki disease

A

high-dose aspirin
Kawasaki disease is one of the few indications for the use of aspirin in children. Due to the risk of Reye’s syndrome aspirin is normally contraindicated in children
intravenous immunoglobulin
echocardiogram (rather than angiography) is used as the initial screening test for coronary artery aneurysms

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19
Q

CF of physiological jaundice of the newborn

A

Jaundice begins after 24hrs peak at day 4 resolves in 2 weeks

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20
Q

When does breast milk jaundice start

A

Day 2-4 peak after 2 weeks may persist for up to 3 weeks
Baby is well

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21
Q

Treatment of physiological and breast milk jaundice

A

No treatment unless bilirubin exceeds threshold on treatment chart

If high phototherapy
Exchange transfusion given if bilirubin is dangerously high or signs of encephalopathy

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22
Q

Cf of biliary atresia

A

Caused by obstruction or absence of bile ducts

Presents age 2-6 weeks
Pale stools
Dark urine
Hepatosplenomegaly
Abdominal distension

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23
Q

Treatment of biliary atresia

A

Kasai portoenterostomy - connects liver to bowel to drain bile

If late of unsuccessful requires liver transplant

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24
Q

CF of phenylketonuria

A

Usually presents by 6 months with developmental delay
Learning disability
Fair hair with blue eyes
Musty odour
Seizures

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25
Management of phenylketonuria
Dietary restriction of phenylalanine
26
Down syndrome genetics
Trisomy 21
27
Cf of turners
Female with short stature Webbed neck Low posterior hairline Widely spaced nipples Neonatal lymphoedema Primary amenorrhoea Coarctation of aorta Horseshoe kidney
28
Cf of down syndrome
Generalised hypotonia and head lag at birth Up slanting eyes Low set ears Flat nasal bridge Epicanthic folds Protruding tongue Brushfield spots (white specks in the iris) Short neck Brachycephaly (flat occiput) Single palmar crease Wide sandal gap between toes Learning disability Fair hair Short stature
29
Complications of downs syndrome
Congenital heart disease (50%) AVSD most common Duodenal atresia Early onset Alzheimer’s disease
30
Genetics turners
45 X (monosomy X)
31
William genetics
Microdeletion on chromosome 7q11.23
32
Clinical features of Williams syndrome
Elfin facial appearance Full cheeks wide mouth full lips periorbital fullness Overly friendly behaviour, anxiety, poor concentration Mild to moderate LD Hypercalcaemia in infancy Complications: supravalvular aortic stenosis
33
Patau genetics
Trisomy 13
34
Cf of patau
Life expectancy is days to weeks Small for gestational age Microcephaly, holoprosencephaly Cleft lip and palate microphthalmia Polydactyls Fused kidneys
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Edward’s syndrome genetics
Trisomy 18
35
Clinical features of Edward’s syndrome
More commonly female Small size micrognathia (small jaw) Overlapping fingers, clenched hands Rocker bottom feet Median lifespan 4 days
36
Prader willi syndrome genetics
15q11-q13
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Cf of prader willi syndrome
Neonatal hypotonia poor feeding failure to thrive Rapid wt gain from age 1 Try cal obesity short stature Food foraging insatiable appetite Mild LD
38
Klinefelters syndrome genetics
47 XXY
39
Cf of Klinefelter syndrome
Male Talk stature Reduced facial/body hair Small firm testes Gynaecomastia Infertility Mild learning difficulties
40
Cf of Marfan’s syndrome
Tall slim long limbs High arched palate scoliosis joint hyper mobility Pectus excavatum Mitral valve prolapse Aortic root dilatation
41
Cf of noonan syndrome
Webbed neck, short stature, hypertelorism (wide spaced eyes) Chest deformity Undescended testes Mild learning difficulties Congenital heart defects - pulmonary stenosis most common
42
Cf of digeorge syndrome
Subtle facial dysmorphism - small mouth, bulbous nasal tip Cleft palate, speech delay Hypocalcaemia (parathyroid hypoplasia) Immunodeficiency (thymic aplastic) Congenital heart disease - TOF, interrupted aortic arch
43
Cf of NF1
More than 6 cafe au lait spots Axillary or inguinal feckingling More than one neurofibroma or plexiform neurofibroma Optic Glioma More than one Lisch nodule (iris hamartoma) Bony dysplasia 1st degree relative with NF1
44
Features of NF2
Bilateral vestibular Schwannomas Meningiomas Ependymomas Cataracts Sensorineural deafness Balance problems
45
Cf of tuberous sclerosis
Skin -facial angiofibromas -ash leaf patches -shagreen patches -periungual fibromas CNS -seizures -developmental delay Xsubependymal nodules -giant cell astrocytomas Renal angiomyolipomas Rhadomyomas Retinal hamartomas Autism ADHD
46
Management of infant less than 3 months with suspected UTI
Urgent admission
47
Management of urinary tract infection in children
Over 3 months Pyelonephritis cefalexin LUTI 1. Trimethoprim or nitrofurantoin 2.amoxicillin or cefalexin Less than 3 months Admit
48
What counts are recurrent UTI in children
3 or more LUTI 2 or more UTI where one was a UUTI
49
What makes a UTI atypical in children
Serious illness/sepesis/aki Poor urine flow, abdominal/bladder mass Failure to respond to antibiotics Non e.coli
50
Who should get imaging in UTI
US - during acute infection if atypical features - within 6 weeks if first uti <6 months or recurrent UTI in >6 months DMSA scan (4-6 months post infection) To assess renal scarring - <3 years with atypical UTI - any child with recurrent UTIs
51
Investigation for vesicoureteral reflux
Micturating cystourethrogram (MCUG)
52
Who should get MCUG
For <6 Months with atypical/recurrent UTI
53
Chignon, caput succedaneum, cephalohaematoma
Chignon a type of caput succedaneum are the same thing boggy swelling due to ventuse delivery crosses suturesresolves quickly Caput succedaneum can occur without instrumental delivery just due to pressure Cephalohaematoma does not cross sutures usually takes a a day or two after deliver slow to resolve higher risk of anaemia
54
Cf of patent ductus arteriosus
Rf: rubella prematurity Continuous machinery murmur Bounding pulses Subclavicular thrill
55
Management of patent ductus arteriosus
Indomethacin or ibuprofen
56
Atrial septal defect cf
Often asymptomatic until adult hood Sob on exertion Pulmonary hypertension Arrhythmias Stroke via paradoxical embolism Ejection systolic murmur Fixed splitting s2
57
VSD cf
Heart failure Tachypnoea Hepatomegaly Failure to thrive Harsh pansystolic murmur LLSE
58
Treatment of transposition of the great arteries
Prostaglandin to keep ductus arteriosus open Surgical correction
59
What is the most common cardiac cause of cyanosis
Tetralogy of fallot
60
What is tetralogy of fallot
Ventricular septal defect Pulmonary stenosis Overriding aorta Right ventricular hypertrophy
61
Cf of tetralogy of fallot
Cyanosis Failure to thrive Tet spells (cyanosis worsens during crying/exertion and relieved by squatting) ESM loudest over pulmonary area Clubbing
62
Cf of necrotising enterocolitis
Premature underweight and formula fed babies Vomiting a do distension blood in stool Axr distended bowel, intramural gas
63
Cf of congenital hypothyroidism
Prolonged neonatal jaundice hypotonia puffy face macroglossia
64
Hard painless goitre
Reidels thyroditis
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Most common cause of primary hyperparathyroidism
Solitary adenoma most common
66
Treatment of mody
Gliclazide
67
Pendreds syndrome
Iodine deficiency hypothyroid Bilateral hearing loss Goitre
68
Thyroid cancer with best outcome
Papillary carcinoma
69
Causative organisms of acute otitis externa
Pseudomonas aeruginosa Staph aureus
70
Sever ear pain smelly discharge and granulation tissue on otoscopy
Malignant otitis externa
71
How to tell cholestatoma from malignant otitis externa
More systemic features in malignant otitis externa
72
Treatment of allergic rhinitis
Mild to moderate prn intranasal antihistamine (azelastine) or prn oral antihistamine (cetirizine/loratadine) Mod severe: regular intranasal steroid (mometaonse/fluticasone)
73
When do you do anything about glue ear
After 3 months - auto inflation or grommets
74
How is glue ear diagnosed
Pneumatic otoscopy tympanometry
75
Management of acute otitis media
Amoxicillin If systemically unwell <2 and bilateral Otorrhoea
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Prophylaxis of vertigo in menieres
Betahistine
77
Treatment of sinusitis
Less than 10 days watch and wait More than 10 days intranasal steroid (mometasone) Antibiotics if suspected bacterial (purulent/fever), systemically unwell, immunocompromised Abx PENV if not improving or very unwell cosmos
78
Antibiotic for whooping cough
Clariythromycim or erythromycin
79
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