Hypomelanosis of ITO is an uncommonly reported neurocutaneous syndrome with a peculiar pattern of swirling hypopigmentation, often associated with variable mental deficiency, seizures (25-50% of cases), ocular and musculoskeletal anomalies. Autosomal dominant inheritance is demonstrated in some but not all cases. We report here two white male patients aged 6 yr. and 2 yr. 4/12 with hypomelanosis of ITO. Both of them show epilepsy, such as Lennox-Gastaut syndrome (case 1) and partial symptomatic epilepsy with complex partial seizures of temporal lobe origin (case 2). Mental retardation, ocular and muscoloskeletal anomalies are variously associated in both patients.
|Translated title of the contribution||Hypomelanosis of ITO: Report of two cases with epilepsy|
|Title of host publication||Bollettino - Lega Italiana contro l'Epilessia|
|Number of pages||3|
|Publication status||Published - 1989|
ASJC Scopus subject areas
- Clinical Neurology