Stroke, Vol 22, 1297-1302, Copyright © 1991 by American Heart Association
E Tournier-Lasserve, MT Iba-Zizen, N Romero and MG Bousser
BACKGROUND AND PURPOSE: We conducted a prospective survey of a family
presenting a new syndrome characterized mainly by recurrent strokelike
episodes and neuroimaging evidence of leukoencephalopathy. SUMMARY OF
REPORT: Forty-five members of a single family were studied clinically and
with magnetic resonance imaging. Nine had strokelike episodes, including
transient ischemic attacks, and minor or major strokes starting between the
fourth and sixth decades, with neuroimaging evidence of small, deep
infarcts and a widespread white matter disorder. Other symptoms included
migraine (three), dementia (two), epilepsy (one), and hearing loss (one).
In some patients, we found various immunologic anomalies and muscular
lipidosis without ragged-red fibers. Eight other family members were
clinically normal, but had identical neuroimaging signs of
leukoencephalopathy. No abnormality was detected in the 28 other members of
the family examined. Extensive investigations failed to reveal any known
cause of cerebral ischemia. CONCLUSIONS: There appears to be a new syndrome
in this family that is characterized by recurrent subcortical strokelike
episodes, leukoencephalopathy, immunologic anomalies, muscular lipidosis,
and an autosomal dominant pattern of transmission.
ARTICLES
Autosomal dominant syndrome with strokelike episodes and leukoencephalopathy
Unite de Pathologie de l'Immunite, Faculte de Medecine Necker, Paris, France.
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