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. 1977 Apr;40(4):370–378. doi: 10.1136/jnnp.40.4.370

Anterior horn cell disease associated with pontocerebellar hypoplasia in infants.

F Goutières, J Aicardi, E Farkas
PMCID: PMC492704  PMID: 874513

Abstract

Three sibs presented with an identical clinical picture of severe mental retardation, cortical blindness, and extensive peripheral paralysis of lower motor neurone type, and died before one year of age. In the one necropsied case, spinal cord lesions, indistinguishable form those of Werding-Hoffman disease, were associated with extreme hypoplasia and atrophy of the cerebellum, and with atrophy of the ventral part of the pons. No prominent abnormalities were found in the nerves sampled despite gross reduction of motor and sensory conduction velocities in two infants. It is proposed that this familial disorder is distinct from Werdnig-Hoffmann disease, and represents a further subtype in the heterogeneous group of the infantile muscular atrophies.

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Selected References

These references are in PubMed. This may not be the complete list of references from this article.

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