A 7‐month‐old boy with global developmental delay, hypotonia, and abnormal hair

Abstract

A 7-month-old boy infant presented with global developmental delay and hypotonia of the trunk and limbs since birth. No history of seizures, feeding difficulty, or recurrent aspiration of feeds was present.He was the firstborn infant to second-degree consanguineous parents born at term weighing 2500 g. He was immunized for age. On examination, no signs of malnutrition were observed. He had generalized pigmentary dilution, doughy skin, and full cheeks; sparse, short, thin, kinky, and brittle hair (Figure 1); and hypotonia. Examination of the hair under light microscopy was performed (Figures 2 and 3).