RAKESH MONDAL, MADHUMİTA NANDİ, DİPAK PATRA, TAPAN DHİBAR
Journal of Pediatric Neurology - 2009;7(4):415-417
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.
