Abstract

A 7-month-old male infant was referred to our hospital for evaluation of his facial puffiness. He had a history of prolonged physiological jaundice during the neonatal period. His mother reported that he had cried hoarsely and become sleepy and lethargic during the months immediately prior to his referral. The infant weighed 8100 g (10th–25th percentile), was 63 cm long (10th–25th percentile) and had a head circumference of 43.5 cm (25th–50th percentile). He had a thick and broad tongue, the bridge of the broad nose was depressed and he had hoarse voice. Examination of his mental and motor development showed retardation. The results of the laboratory tests, all abnormal, are given in Table 1. After 1 month of replacement treatment, the mother complained of hair loss by the infant. Physical examination revealed a diffuse loss of scalp hair, especially at the temporal and occipital regions. Hair regrowth was apparent after 4 months.

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