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Marinesco-Sjogren-like syndrome (MSLS)

MedGen UID:
163207
Concept ID:
C0796036
Disease or Syndrome
 

Definition

A cerebro-oculomuscular syndrome having the characteristics resembling those of the Marinesco-Sjogren syndrome. Infantile hypotonia, the presenting symptom, is followed in preschool age by ataxia, cataract, and mental retardation. Computed tomography shows cerebellar atrophy, muscle biopsy reveals myopathic changes with vascular degeneration and adipose tissue proliferation, and electron microscopy demonstrates myelin bodies and autophagic vacuoles. [from MCA/MR]

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