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.
› Author Affiliations

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.



Publication History

Publication Date:
26 April 2020 (online)

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