HYPOMELANOSIS OF ITO - A STUDY OF 76 INFANTILE CASES

We show the complications observed in a large series of children with hypomelanosis of Ito (HI) or incontinentia pigmenti achromians, studie d in a neurology service over 30 years. Of the 76 patients, 35 were ma le (46%) and 41 female (54%) with ages ranging from newborn to 10 year s at the time of the first visit. They were thoroughly studied from th e clinical, genetic, psychological, neuroradiological, with computed t omography (CT) and/or magnetic resonance imaging (MRI), and electroenc ephalographic (EEG) paints of view, Mental retardation was observed in 43 cases (57%) of whom eight (10%) showed autistic behavior; 16 (21%) were borderline and only 17 (22%) had a normal mental level (IQ > 85) . Thirty-seven patients (49%) had seizures, consisting of infantile sp asms in six cases (8%). Twelve cases showed macrocephaly and coarse fa cies, six had microcephaly, and 14 showed hypotonia with pes valgus an d genu valgus. Three cases of cerebellar hypoplasia, another of intrac ranial arteriovenous malformation and another of distal spinal muscula r atrophy were observed as well. Some other anomalies, such as syndact yly, clinodactyly, abnormalities of the skeleton, asymmetry of the fac ies, ears, body and/or extremities, gynecomastia and asymmetrical brea sts, short stature, oral alterations, congenital cardiopathies and gen ital anomalies, were also occasionally found. Three children died, but necropsy was performed only in one. Anatomical and histological studi es did not disclose specific findings. (C) 1998 Elsevier Science B.V.