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Sialidosis type I (cherry red spot-myoclonus syndrome).
J Indian Med Assoc ; 2004 Mar; 102(3): 174-5
Article in En | IMSEAR | ID: sea-97120
Sialidosis type 1 or the cherry red spot-myoclonus syndrome (CRSM) is an autosomal recessive disorder with the onset in adolescence of myoclonus and gradual visual failure. Here, a case of CRSM in a 12-year-old Bengali Muslim girl with the history of myoclonic jerks of limbs and the body since last 2 years and gradual impairment of vision since last one year is presented with a brief review of the literature.
Subject(s)
Full text: 1 Index: IMSEAR Main subject: Vision Disorders / Female / Humans / Child / Diagnostic Techniques, Ophthalmological / Mucolipidoses Language: En Journal: J Indian Med Assoc Year: 2004 Type: Article
Full text: 1 Index: IMSEAR Main subject: Vision Disorders / Female / Humans / Child / Diagnostic Techniques, Ophthalmological / Mucolipidoses Language: En Journal: J Indian Med Assoc Year: 2004 Type: Article