Case of Marinesco Sjogren Syndrome

Abstract

Marinesco-Sjgren syndrome (MSS) is a rare autosomal recessive disorder characterized clinically by cerebellar ataxia, congenital cataracts, mental and physical retardation, skeletal anomalies, motor and sensory neuropathy and myopathy. Cerebellar atrophy is considered the most prominent neuroradiologic finding in MSS. However, epilepsy is rarely seen in this patients. In this article the clinical and radiological findings were diagnosed as having MSS and epilepsy is also 27 years old female patient, clinical and electrophysiological seizures as the first case because the records have been have been reported.