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Journal of Pediatric Neurology 2009; 07(04): 415-417
DOI: 10.3233/JPN-2009-0323
Case Report
Georg Thieme Verlag KG Stuttgart – New York

Marinesco-Sjögren syndrome: A report of two cases in a family from Kolkata

Rakesh Mondal
a   Department of Pediatrics, IPGM&R and SSKM Hospital, Kolkata, India
,
Madhumita Nandi
a   Department of Pediatrics, IPGM&R and SSKM Hospital, Kolkata, India
,
Dipak Patra
a   Department of Pediatrics, IPGM&R and SSKM Hospital, Kolkata, India
,
Tapan Dhibar
b   Department of Radiology, Bangur Institute of Neurosciences & Psychiatry, Kolkata, India
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Publication History

22 November 2008

04 March 2009

Publication Date:
30 July 2015 (online)

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Abstract

Marinesco-Sjögren syndrome is a rare syndromic disorder with distinctive features of cerebellar atrophy, developmental delay, congenital cataract and other associated features. It is an autosomal recessive disorder. Only 100-200 cases have been diagnosed worldwide until now. Only two previous reports could be found from India-one describing two cases and another report of three affected siblings. Here we describe a family with two affected siblings from Kolkata, India.

Keywords

Marinesco-Sjögren syndrome - cerebellar atrophy - congenital cataract