Paediatrics Flashcards
Low set ears, up slanting eyes, prominent epicanthic folds. Single palmar crease. Short stature, learning difficulty.
Congenital heart disease- AVSD most common
Down’s Syndrome - Trisomy 21
Cleft lip/palate, polydactyly, microcephalic, small eyes. Profound learning difficulty
Patau Syndrome- Trisomy 13
OVerlapping hands/fingers, rocker-bottom feet, low-set ears, affects F >M
Edward’s syndrome- trisomy 18
Hypotonia/floppy, hypogonadism. Older children- short stature and obesity, instatiable appetite
Prader-Willi syndrome- deletion on chromosome 15
Boys- Small testes, infertile. Tall, reduced muscle mass, gynaecomastia.
Klinefelter syndrome- 47XXY
Female with short stature, broad neck, broadly spaced nipples, coarctation of aorta, VSD, hypoplastic “streak” ovaries- primary amenorrhoea and infertility
Turner’s syndrome- 45 XO
Elvin facial appearance, overly friendly/extrovert, poor attention, anxiety, supravalvular aortic stenosis
William’s Syndrome
AD inheritance, short stature, occular hyperelorism, ptosis, webbed neck. Pulmonary stenosis, pectus excavatum. Wide spaced eyes.
Noonan syndrome
Fair hair , blue eyes. learning difficulties, seizures (typically infantile spasms), “musty” odour to sweat and urine
Phenylketonuria
> 6 cafe au lait spots, axillary/groin freckling, 1 neurofibroma
NF1
Bilateral vestibular schawannoma, mulitple intracranial schwannomas
NF2
Ash leaf spots (patches of hypopigmentation), facial angiofibroma (reddish lumps often in butterfl distribution), shagreen patch (thickened patch of skin on neck or lower back). Retinal hamartomas- white areas on retina. Epilepsy
Tuberous Sclerosis
Prophylactic abx in cystic fibrosis
PO flucloxacillin till age of 3
Long term low dose azithromycin to pts with deterioriating lung function tests/recurrent infections
Investigations for children with UTI
US in 6 weeks if children >6months with recurrent UTI (3 or more LUTI, 2 or more UTI with at least one UUTI) , children <6 months with first time
Perform DMSA in 4-6 months for children <3 years with atypical UTI, any child with recurrent UTI- diagnose vesicoureteral reflux using micturating cystourethrogram
Abx for LUTI in children and pyelonephritis
- PO ceflaxin- pyelonephritis in child >3 months
- PO trimethoprim/nitrofurantoin- LUTI child >3 months
- Admit for abx if <3 months
“wedge shaped” localised inflammation in one brest, firm and tender, can be sytemic upset
Mastitis
Flucloxacillin 10-14 days
Continue breastfeeding/expressing
Fluctuant, tender breast lump (can develop from mastitis)
Abscess- I&D
Breast pain following birth, bilateral, worse before feed. Entire brest can appear shiny due to swelling/swollen
Engorgment
Painless benign milk filled cyst, smooth breast swelling. Painless. Palpation may trigger milk discharge. RFs: difficulty breastfeeding/formula fed
Galactocele
Localised lump, painful to touch, pea-sized or larger. Pain may subside after expression/feeding. Milk bleb/blister on nipple
Blocked milk duct
