Brittle Hair, Photosensitivity, Brain Hypomyelination and Immunodeficiency: Clues to Trichothiodystrophy

Excerpt

A 5-mo-old male infant (Fig. 1a) with dysmorphic features (thin, dry and brittle hair, micropthalmia, hypertelorism, sparse eyebrows, large and protruding ears, high arched palate and thin nails) was admitted to the Department of Pediatrics for further evaluation of psychomotor retardation, neutropenia and hypogammaglobulinemia since the neonatal period. The infant was hospitalized at the NICU immediately after birth, with a history of perinatal asphyxia, prematurity (30 wk gestation) and intrauterine growth retardation. The neurological examination revealed generalised hypertonia with pyramidal tract signs (increased tendon reflexes, positive Rossolimo and Babinski signs, clonus), microcephaly with head circumference (HC) below the 3rd percentile for age and a neurodevelopmental age below 2 mo according to Griffiths Developmental Scales. The brain MRI demonstrated hypomyelination (Fig. 2a). The parents reported of an extensive facial rash immediately after sun exposure.

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