Cerebellar involvement in hypomelanosis of Ito.
Hypomelanosis of Ito (HI) (incontinentia pigmenti achromians) with cerebellar atrophy and dysmorphic features is reported in a child. The association of cerebellar anomalies and HI has been previously reported in only four cases. However, since neuroimaging studies are not routinely obtained in these patients the frequency of this association might have been underestimated. In cases of otherwise unexplained cerebellar ataxia an examination of the skin with Wood's lamp should be performed since the typical hypopigmented lesions can be hardly visible in natural light.
Pini
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U.O. di Neuropsichiatria Infantile, USL 3 Versilia, Viareggio, Italy.
Faulkner
L B
LB
D000293:Adolescent; D002524:Cerebellar Ataxia / Q000209:etiology; D002531:Cerebellum / Q000503:physiopathology*; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D010859:Pigmentation Disorders / Q000150:complications / Q000175:diagnosis / Q000503:physiopathology*