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

Rakesh Mondal; Madhumita Nandi; Dipak Patra; Tapan Dhibar

doi:10.3233/JPN-2009-0323

Journal of Pediatric Neurology, Inhaltsverzeichnis

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

^aDepartment of Pediatrics, IPGM&R and SSKM Hospital, Kolkata, India

,

Madhumita Nandi

^aDepartment of Pediatrics, IPGM&R and SSKM Hospital, Kolkata, India

,

Dipak Patra

^aDepartment of Pediatrics, IPGM&R and SSKM Hospital, Kolkata, India

,

Tapan Dhibar

^bDepartment of Radiology, Bangur Institute of Neurosciences & Psychiatry, Kolkata, India

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Abstract

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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

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