General paeds

Question 1

Failure to thrive

Answer 1

Poor weight gain in infancy. Head circumference is preserved relative to height, which is preserved relative to weight.
95% not due to enough food
Check feeding technique
Tests: MSU, coeliac serology, U&E, glucose, LFT, Ca, proteins, immunoglobulins, CRP, TSH, FBC, sweat test, urinary amino +/- organic acid chromatography, stools, CXR, renal or CNS

Question 2

Short stature: causes

Answer 2

Constitutional
Psychological neglect
Poverty; physical abuse
Drugs e.g. steroids
Genetic e.g. Turner's or CF
Ineffective diet (coeliac)
Inflammatory bowel disease
Hypothyroidism
Infection e.g. UTI, TB
low GH

Question 3

Short stature

Answer 3

Height <3rd centile
Hypopituitarism after 2y, look for relative obesity
Deficiency of growth hormone

Question 4

PKU
Definition
Symptoms and clinical features
Tests
Treatment

Answer 4

Phenylalanine ketonuria- mutation in gene leading to absent or reduced activity of phenylalanine hydroxylase.

Gradual mental impairment. Fair hair, fits, eczema, musty urine, low IQ

Newborn screening

Avoid phenylalanine food products.

More prone to depression, anxiety, phobic tendencies, isolation and less masculine self image