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

Détails

ID Serval
serval:BIB_7411C436CEF4
Type
Article: article d'un périodique ou d'un magazine.
Sous-type
Etude de cas (case report): rapporte une observation et la commente brièvement.
Collection
Publications
Titre
Infantile and juvenile presentations of Alexander's disease: a report of two cases.
Périodique
Acta Neurologica Scandinavica
Auteur⸱e⸱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]
Statut éditorial
Publié
Date de publication
1999
Volume
99
Numéro
3
Pages
158-165
Langue
anglais
Résumé
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.
Mots-clé
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
Création de la notice
29/10/2010 8:48
Dernière modification de la notice
20/08/2019 15:31
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