Generalized Giant Axonal Neuropathy – A Case with Features of Fazio-Londe Disease
- 1 February 1979
- journal article
- case report
- Published by Georg Thieme Verlag KG in Neuropediatrics
- Vol. 10 (01) , 76-86
- https://doi.org/10.1055/s-0028-1085316
Abstract
We present the 8th case so far published of generalized giant axonal neuropathy. Many features of the neurological picture of this 8 year 8 month old boy were suggestive of progressive bulbar paralysis of childhood. Muscle and sural nerve biopsies disclosed typical nodular axonal swellings measuring between 10—29 nm. Ultrastructure of the inflated portions of the axon consisted almost exclusively of 10 nm filaments. Normally appearing constituents were found in the non-dilated portions of the axons with this particularity that glycogen and mitochondria were aggregated. Previous clinical and pathological evidence indicates that this rare disorder not only affects the peripheral nerves but also the whole CNS. Our case differs from the others reported in literature by its rapidly deteriorating course and by the prominent involvement of some brain-stem motor functions; we offer the theory that a link might be implicated between this entity and Fazio-Londe disease. 1 Supported in part by the Muscular Dystrophy Association of Canada.Keywords
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