Category: Pediatrics
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When to suspect an inherited metabolic disease
Here are seven cardinal clues to the presence of an inherited metabolic disease (“inborn error of metabolism”): Normal pregnancy and birth, but the infant begins to deteriorate after an asymptomatic interval (usually after the first 24 hours of life) Symptoms are precipitated or exacerbated by changes in metabolic state or dietary habits: feeding, starvation, dietary changes, or exertion.…
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Atopic Dermatitis (“Eczema”): How to Control it
Step 1: First of all, make sure it’s really atopic dermatitis! Atopic dermatitis is a pruritic, immune-mediated skin condition that is common in all age groups, but is particularly common among infants, toddlers and small children. It is commonly called eczema by clinicians and laypersons alike. There are three different highly pruritic skin conditions that…
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Book Review: The Bedside Dysmorphologist
The Bedside Dysmorphologist by Dr. William Reardon is a great book about diagnosing malformation syndromes at the bedside. It is only about 300 pages long, but it is packed with essential clinical pearls. Unlike other books in the field which break things down by syndromes, this book delves into the differential diagnosis based on clinical presentations. For example,…