Anterior horn cell disease associated with pontocerebellar hypoplasia in infants

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...

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Bibliographic Details
Published in:Journal of neurology, neurosurgery and psychiatry neurosurgery and psychiatry, 1977-04, Vol.40 (4), p.370-378
Main Authors: Goutières, F, Aicardi, J, Farkas, E
Format: Article
Language:English
Subjects:
Anterior Horn Cells
Cerebellar Cortex - pathology
Cerebellum - abnormalities
Female
Humans
Infant
Infant, Newborn
Male
Motor Neurons
Muscular Atrophy - complications
Muscular Atrophy - genetics
Pons - abnormalities
Pons - pathology
Spinal Cord - pathology
Syndrome
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Summary: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.
ISSN:0022-3050
1468-330X
DOI:10.1136/jnnp.40.4.370