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Article

GM1 gangliosidosis type 2 in two siblings.

Journal of child neurology - 1 Apr 1992

Gascon G G, Ozand P T, Erwin R E

Abstract excerpt

A sister and brother, now aged 7 and 9 years, presented with developmental arrest, gait disturbance, dementia, and a progressive myoclonic epilepsy syndrome with hyperacusis in the second year of life. Then, spastic quadriparesis led to a decerebrate state. In the absence of macular or retinal degeneration, organomegaly, and somatic-facial features suggesting mucopolysaccharidosis, the presence of hyperacusis...

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Identifiers

PMID: 1588015
DOI: 10.1177/08830738920070010711

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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