Infantile familial encephalopathy with cerebral calcifications and leukodystrophy.

Infantile familial encephalopathy with cerebral calcifications and leukodystrophy. Research Abstract Details 

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Infantile familial encephalopathy with cerebral calcifications and leukodystrophy. Abstract Text:

E Boltshauser,M Steinlin,C Boesch,E Martin,G Schubiger,E Boltshauser,M Steinlin,C Boesch,E Martin,G Schubiger,

Two sets of siblings, in two different families, presenting with congenital and progressive neurological disorders, cerebral calcifications and leukodystrophy are reported. In the first family, the diagnosis of brain calcifications in two infants was based on skull X-rays; in the second family, ultrasound scans showed hyperechoic areas in the basal ganglia and periventricular white matter in both infants. Neuropathological studies confirmed the calcifications and revealed severe abnormalities of the white matter with GFAP positive gliosis. Electron micrographs showed large astrocytes with an increased amount of glial filaments. In the group of idiopathic non arteriosclerotic cerebral calcifications, these four cases may represent a separate entity with possible autosomal recessive inheritance.

Infantile familial encephalopathy with cerebral calcifications and leukodystrophy. Publishing Authors By Initials

E Boltshauser,M Steinlin,C Boesch,E Martin,G Schubiger,E Boltshauser,M Steinlin,C Boesch,E Martin,G Schubiger,

For similar nervous system: neuroglia research abstracts see: nervous system: neuroglia research

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Infantile familial encephalopathy with cerebral calcifications and leukodystrophy. Journal Published:

PUBLICATION TYPE: Review

Journal: Neuropediatrics

VOLUME: 19

Page Numbers: 72-9

Journal Abbreviation: Neuropediatrics

ISSN: 0174-304X

DAY: 16

MONTH: May

YEAR: 1988

Infantile familial encephalopathy with cerebral calcifications and leukodystrophy. Information

Number of References: 11

LANGUAGE: eng

NlmUniqueID: 8101187

Infantile familial encephalopathy with cerebral calcifications and leukodystrophy. Keywords Mesh Terms:

KEYWORDS: Neuroglia

MESH TERMS: ultrastructure

Chemical & Substance for Abstract: Infantile familial encephalopathy with cerebral calcifications and leukodystrophy. Information

Substance Name: Glial Fibrillary Acidic Protein

Registry Number: 0

Grant and Affiliation Information for Infantile familial encephalopathy with cerebral calcifications and leukodystrophy.

AFFILIATION: Département d'Histologie-Embryologie, CHU Henri Mondor, Créteil, France.

Country: GERMANY, WEST

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MEDLINETA: Neuropediatrics

REFSOURCE: Neuropediatrics. 1991 Feb;22(1):33-5

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