Clinical and pedigree study on familial cases of West syndrome in Japan

Citation
K. Sugai et al., Clinical and pedigree study on familial cases of West syndrome in Japan, BRAIN DEVEL, 23(7), 2001, pp. 558-564
Citations number
25
Language
INGLESE
art.tipo
Article
Categorie Soggetti
Neurology,"Neurosciences & Behavoir
Journal title
BRAIN & DEVELOPMENT
ISSN journal
0387-7604 → ACNP
Volume
23
Issue
7
Year of publication
2001
Pages
558 - 564
Database
ISI
SICI code
0387-7604(200111)23:7<558:CAPSOF>2.0.ZU;2-J
Abstract
Nationwide survey on familial cases of West syndrome (WS) in first- and sec ond-degree relatives was conducted by mailing a questionnaire to 64 major u niversity hospitals, children's hospitals, and epilepsy centers in Japan, a nd by review of the Japanese cases in the literatures. Thirty-four familial cases, 20 males and 14 females, were obtained in 15 families including one with five affected members in two generations and another with three affec ted male siblings including a half brother by a different father (X-linked WS). A mother and the child or children were involved in three families. Ni ne families had 21 cryptogenic cases and six families had 13 symptomatic ca ses,and the etiologies were same among the affected members in each family. Familial cases of WS have characteristic clinical features and genetic mec hanisms. Age of onset, seizure types, electroencephalographic abnormalities , early seizure outcome, effective treatment, long-term seizure prognosis, and long-term developmental prognosis were concordant among the affected me mbers in each family. Long-term seizure and developmental prognoses were fa r better than those in WS in general, with seizure-free rate of 82% and nor mal mental development rate of 44%. Poor prognosis was limited to specific symptomatic cases. Adrenocorticotropic hormone (ACTH) was a treatment of ch oice, and even in relapse of WS after ACTH therapy, the patients well respo nded to antiepileptic drugs. Specific inheritance pattern was difficult to imagine in the majority of the present cases, except for one family with X- linked WS and another family with five patients of maternal inheritance. Th ese result,, are helpful for the treatment choice and prognostication of cl inical course for familial cases of WS. (C) 2001 Elsevier Science B.V. All rights reserved.