Congenital retardation and central motor defect with later evolution of seizure disorder, orofacial dysplasia, and amyotrophy. A clinicopathologic report.

Abstract:

:Retarded mental and motor development was observed during the first year of life of a full-term female who had been delivered with difficulty. Generalized psychomotor seizures and dysplastic "acromegalic" facial changes began to develop when she was 8 years old, and generalized amyotrophy developed over the next several years. The course was generally progressive, and she died at age 31. A variety of clinical laboratory studies were nondiagnostic. Autopsy findings showed normal brain weight and normal-appearing cerebral hemispheres, a peculiar atrophy of the inferior portion of the cerebellar hemispheres, a demyelinating process in the dorsal columns of the cervical and thoracic spinal cord, and lateral column and motor neuron degeneration. The pathogenesis of the syndrome is undetermined.

journal_name

Neurology

journal_title

Neurology

authors

Landau WM,Torack RM,Guggenheim MA

doi

10.1212/wnl.26.9.869

subject

Has Abstract

pub_date

1976-09-01 00:00:00

pages

869-73

issue

9

eissn

0028-3878

issn

1526-632X

journal_volume

26

pub_type

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