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CC BY-NC-ND 4.0 · Journal of Health and Allied Sciences NU 2014; 04(03): 121-123
DOI: 10.1055/s-0040-1703818
Case Report

DEVELOPMENTAL DELAY IN CHILDHOOD CATARACT: A CAVEAT MARINESCO-SJÖGREN SYNDROME

Rathika D. Shenoy
1   Professor, Department of Paediatrics, K.S. Hegde Medical Academy, Nitte University, Mangalore - 575 018
,
Deepthi R. V.
2   Assistant Professor, Department of Paediatrics, K.S. Hegde Medical Academy, Nitte University, Mangalore - 575 018
,
Nutan Kamath
3   Professors, Department of Paediatrics, Kasturba Medical College Mangalore, Manipal University, Mangalore - 575 002, Karnataka, India.
,
Sumana J. Kamath
4   Professors, Department of Ophthalmology, Kasturba Medical College Mangalore, Manipal University, Mangalore - 575 002, Karnataka, India.
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Abstract

We report on a child with Marinesco-Sjögren Syndrome, a rare autosomal recessive disorder characterised by early onset cataract, psychomotor delay, cerebellar hypoplasia and myopathy. The presentation, neuro-imaging and muscle biopsy features are discussed.

Keywords

Cerebellar hypoplasia - Growth failure - Hypotonia - Myopathy


Publikationsverlauf

Artikel online veröffentlicht:
26. April 2020

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