Coffin-Lowry syndrome is a well-defined pattern of human malformation, in which X-linked inheritance is implied. About 30 cases have so far been reported in literature. Seizures and/or EEG studies are mentioned only in a small minority of cases, and in all of them as a minor detail. Epilepsy has never been reported in this disorder. We report here the occurrence of epilepsy in two patients (the propositus and his female sib) with Coffin-Lowry syndrome. Partial symptomatic epilepsy, unresponsive to the usual AEDs, is present in the male sibling; while his sister is affected by photosensitive epilepsy, well controlled on VPA. The severity of epilepsy in the male patient relates well to the syndrome clinical picture, with males being consistently more severely affected than females. In view of the apparent progressive motor deterioration in the male patient, it is suggested to carry out proper investigations of additional examples of the Coffin-Lowry syndrome.
|Translated title of the contribution||Coffin-Lowry syndrome with epilepsy in two siblings|
|Title of host publication||Bollettino - Lega Italiana contro l'Epilessia|
|Number of pages||3|
|Publication status||Published - 1989|
ASJC Scopus subject areas
- Clinical Neurology