Infantile and juvenile presentations of Alexander's disease: a report of two cases.

Details

Serval ID
serval:BIB_7411C436CEF4
Type
Article: article from journal or magazin.
Publication sub-type
Case report (case report): feedback on an observation with a short commentary.
Collection
Publications
Title
Infantile and juvenile presentations of Alexander's disease: a report of two cases.
Journal
Acta Neurologica Scandinavica
Author(s)
Deprez M., D'Hooghe M., Misson J.P., de Leval L., Ceuterick C., Reznik M., Martin J.J., D'Hooge M.
ISSN
0001-6314[print], 0001-6314[linking]
Publication state
Published
Issued date
1999
Volume
99
Number
3
Pages
158-165
Language
english
Abstract
We describe 2 new cases of Alexander's disease, the first to be reported in Belgium. The first patient, a 4-year-old girl, presented with progressive megalencephaly, mental retardation, spastic tetraparesis, ataxia and epilepsy: post-mortem examination showed widespread myelin loss with Rosenthal fibers (RFs) accumulation throughout the neuraxis. She was the third of heterozygotic twins, the 2 others having developed normally and being alive at age 5 years. The second patient developed at age 10 years and over a decade spastic paraparesis, palatal myoclonus, nystagmus, thoracic hyperkyphosis and thoraco-lumbar scoliosis with radiological findings of bilateral anterior leukoencephalopathy. Brain stereotactic biopsy at age 16 years demonstrated numerous RFs. With these 2 cases, we review the literature on the various clinico-pathological conditions reported as Alexander's disease. We discuss the nosology of this entity and the pathogeny of RFs formation and dysmyelination. Clues to the diagnosis of this encephalopathy in the living patient are briefly described.
Keywords
Adolescent, Age of Onset, Astrocytes/pathology, Brain/pathology, Brain Diseases/pathology, Child, Child, Preschool, Disease Progression, Female, Frontal Lobe/pathology, Humans, Infant, Male, Neurodegenerative Diseases/pathology
Pubmed
Create date
29/10/2010 7:48
Last modification date
20/08/2019 14:31
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