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, studied in a neurology service over 30 years. Of the 76 patients, 35 were male (46%) and 41 female (54%) with ages ranging from newborn to 10 years at the time of the first visit. They were thoroughly studied from the clinical, genetic, psychological, neuroradiological, with computed tomography (CT) and/or magnetic resonance imaging (MRI), and electroencephalographic (EEG) points 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 spasms in six cases (8%). Twelve cases showed macrocephaly and coarse facies, six had microcephaly, and 14 showed hypotonia with pes valgus and genu valgus. Three cases of cerebellar hypoplasia, another of intracranial arteriovenous malformation and another of distal spinal muscular atrophy were observed as well. Some other anomalies, such as syndactyly, clinodactyly, abnormalities of the skeleton, asymmetry of the facies, ears, body and/or extremities, gynecomastia and asymmetrical breasts, short stature, oral alterations, congenital cardiopathies and genital anomalies, were also occasionally found. Three children died, but necropsy was performed only in one. Anatomical and histological studies did not disclose specific findings.
Pascual-Castroviejo
I
I
Pediatric Neurology Service, University Hospital La Paz, Madrid, Spain.
Roche
C
C
Martinez-Bermejo
A
A
Arcas
J
J
Lopez-Martin
V
V
Tendero
A
A
Esquiroz
J L
JL
Pascual-Pascual
S I
SI
D000505:Alopecia / Q000150:complications; D001321:Autistic Disorder / Q000150:complications; D001921:Brain / Q000002:abnormalities / Q000473:pathology; D002648:Child; D002675:Child, Preschool; D004827:Epilepsy / Q000150:complications; D005260:Female; D006801:Humans; D007184:Incontinentia Pigmenti / Q000150:complications* / Q000175:diagnosis / Q000473:pathology; D007223:Infant; D007231:Infant, Newborn; D008607:Intellectual Disability / Q000150:complications; D008279:Magnetic Resonance Imaging; D008297:Male; D013036:Spasms, Infantile / Q000150:complications