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

Rathika D. Shenoy; Deepthi R. V.; Nutan Kamath; Sumana J. Kamath

doi:10.1055/s-0040-1703818

Journal of Health and Allied Sciences NU, Inhaltsverzeichnis

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

¹Professor, Department of Paediatrics, K.S. Hegde Medical Academy, Nitte University, Mangalore - 575 018

,

Deepthi R. V.

²Assistant Professor, Department of Paediatrics, K.S. Hegde Medical Academy, Nitte University, Mangalore - 575 018

,

Nutan Kamath

³Professors, Department of Paediatrics, Kasturba Medical College Mangalore, Manipal University, Mangalore - 575 002, Karnataka, India.

,

Sumana J. Kamath

⁴Professors, Department of Ophthalmology, Kasturba Medical College Mangalore, Manipal University, Mangalore - 575 002, Karnataka, India.

› Institutsangaben

Abstract

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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

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Referenzen

References
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