A syndrome with juvenile cataract, cerebellar atrophy, mental retardation and myopathy

Four patients of two families with clinical characteristics resembling those in Marinesco-Sjögren syndrome are presented. All patients had infantile hypotonia as the presenting sign. In preschool age ataxia, cataract and mental retardation manifested. CT scan revealed cerebellar atrophy. Muscle biop...

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Bibliographic Details
Published inNeuropediatrics Vol. 18; no. 3; p. 164
Main Authors Herva, R, von Wendt, L, von Wendt, G, Saukkonen, A L, Leisti, J, Dubowitz, V
Format Journal Article
LanguageEnglish
Published Germany 01.08.1987
Subjects
Adolescent
Adult
Atrophy
Cataract - complications
Cataract - genetics
Cataract - physiopathology
Cerebellar Diseases - complications
Cerebellar Diseases - genetics
Cerebellar Diseases - physiopathology
Child
Humans
Intellectual Disability - complications
Intellectual Disability - genetics
Intellectual Disability - physiopathology
Male
Muscular Diseases - complications
Muscular Diseases - genetics
Muscular Diseases - pathology
Syndrome
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Summary:Four patients of two families with clinical characteristics resembling those in Marinesco-Sjögren syndrome are presented. All patients had infantile hypotonia as the presenting sign. In preschool age ataxia, cataract and mental retardation manifested. CT scan revealed cerebellar atrophy. Muscle biopsy showed myopathic changes with vacuolar degeneration and marked adipose tissue proliferation. Electron microscopy showed myelin bodies and autophagic vacuoles. The conclusion is that the peculiar myopathic and degenerative findings in the muscle biopsy are a consistent morphological feature in the clinical entity of the patients and the syndrome is distinctive from Marinesco-Sjögren syndrome.
ISSN:0174-304X
DOI:10.1055/s-2008-1052473