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

Article type: Research Article

Authors: Mondal, Rakesh | Nandi, Madhumita | Patra, Dipak | Dhibar, Tapan

Affiliations: Department of Pediatrics, IPGM&R and SSKM Hospital, Kolkata, India | Department of Radiology, Bangur Institute of Neurosciences & Psychiatry, Kolkata, India

Note: [] Correspondence: Dr. Madhumita Nandi, M.D., 6/6, Naren Sarkar Road, Barisha, Kolkata-700008, India. Tel.: +91 943 3166790; Fax: +91 332 2236026; E-mail: [email protected]

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

DOI: 10.3233/JPN-2009-0323

Journal: Journal of Pediatric Neurology, vol. 7, no. 4, pp. 415-417, 2009