Dr. AAZAMBIR BRAR

Dr. SHIVANAND BUBANALE, Dr. UMESH HARAKUNI, Dr.CHETHANA WARAD

Abstract

Introduction-Marinesco-Sjögren syndrome (MSS) presents with neurological and ocular manifestations including bilateral cataracts and, less frequently, nystagmus and strabismus. Symptoms include cerebellar ataxia, cataract, delays in psychomotor development, diminished muscle tone (hypotonia), and progressive muscle weakness.

Case-3 year old male child diagnosed with MSS presented with complaints of diminished vision in left eye since 1 month in the left eye. On examination left eye developmental cataract, bilateral lower limb hypotonia, dysarthria and delayed development milestones were noted but no strabismus or nystagmus were seen. Born out of a consanguineous marriage, no similar complaints were seen in siblings. Patient underwent cataract surgery under GA.

Conclusion- Marinesco-Sjögren syndrome is a rare inherited disease with neurological and ocular manifestations. Early diagnosis and intervention will prevent amblyopia which is one of the leading causes of irreversible blindness.