Clinical and pathological study of three Tunisian siblings with L-2-hydroxyglutaric aciduria.

Abstract:

:This report describes three brothers belonging to a consanguineous family suffering from a progressive neurological disorder associated with L-2-hydroxyglutaric aciduria. Clinically this disorder is characterized by childhood onset, pyramidal signs, cerebellar and pseudobulbar syndromes and epilepsy. Pathological examination of the brain in the oldest patient, who died at the age of 30 years, showed bilateral and diffuse spongiosis with notable cystic cavitations of the cerebral white matter without abnormal storage in neurons and glial cells. We consider that these findings are related to L-2 hydroxyglutaric aciduria. To our knowledge this present case represents the first to be reported with neuropathological examination.

journal_name

Acta Neuropathol

journal_title

Acta neuropathologica

authors

Larnaout A,Hentati F,Belal S,Ben Hamida C,Kaabachi N,Ben Hamida M

doi

10.1007/BF00310381

subject

Has Abstract

pub_date

1994-01-01 00:00:00

pages

367-70

issue

4

eissn

0001-6322

issn

1432-0533

journal_volume

88

pub_type

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