ISSN:
1433-0350
Keywords:
Familial encephalopathy
;
Leukodystrophy
;
Calcification
;
Basal ganglia
;
Cerebrospinal fluid lymphocytosis
Source:
Springer Online Journal Archives 1860-2000
Topics:
Medicine
Notes:
Abstract The authors report the ninth case of progressive familial encephalopathy in infancy, with calcification of the basal ganglia and chronic cerebrospinal fluid (CSF) lymphocytosis, as recently described by Aicardi and Goutieres. The encephalopathy appears during the first year of life with bilateral spasticity, continuing microcephaly, abnormal eye movements, and a rapid course toward a behavioral vegetative state. In every case, there is a mild lymphocytosis in the CSF and brain atrophy with calcification of the lenticular nuclei. No evidence of an infectious disease has been discovered. This syndrome constitutes a distinct type of leukodystrophy, transmitted as an autosomal recessive trait. Our case is a reminder that the presence of CSF lymphocytosis in infants, with encephalopathy and calcification of the lenticular nuclei, may be due to genetic degenerative encephalopathy.
Type of Medium:
Electronic Resource
URL:
http://dx.doi.org/10.1007/BF00274035
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