Abstract
Nationwide survey on familial cases of West syndrome (WS) in first- and second-degree
relatives was conducted by mailing a questionnaire to 64 major university hospitals,
children's hospitals, and epilepsy centers in Japan, and 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 affected 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.
Nine families had 21 cryptogenic cases and six families had 13 symptomatic cases,
and the etiologies were same among the affected members in each family. Familial cases
of WS have characteristic clinical features and genetic mechanisms. 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 members in each family. Long-term seizure and developmental
prognoses were far better than those in WS in general, with seizure-free rate of 82%
and normal mental development rate of 44%. Poor prognosis was limited to specific
symptomatic cases. Adrenocorticotropic hormone (ACTH) was a treatment of choice, and
even in relapse of WS after ACTH therapy, the patients well responded 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. These results are helpful for the treatment choice
and prognostication of clinical course for familial cases of WS.
Keywords
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Article info
Publication history
Accepted:
August 12,
2001
Received in revised form:
August 9,
2001
Received:
July 23,
2001
Identification
Copyright
© 2001 Elsevier Science B.V. Published by Elsevier Inc. All rights reserved.
