Marinesco-Sjögren Syndrome: Neuroradiologic Findings

Abstract

We report the neuroradiologic manifestations of Marinesco-Sjögren Syndrome, an autosomal recessive disorder characterized by cerebellar ataxia, congenital cataracts, mental and physical retardation, skeletal anomalies and myopathy. Our patient population included eight patients (five males and three females), aged 4 to 56 years, with mental retardation, cerebellar ataxia and myopathy. Clinical and genetic evaluations were performed in all patients. Four patients underwent muscle biopsies. Nine CT examinations, seven MR examinations and two lateral skull films were performed. All patients had absent lenses and hypoplasia of vermis and cerebellar hemispheres. All except one (who had a posterior fossa arachnoid cyst) had a small posterior fossa. The neuroradiologic hallmarks of the disease are cerebellar hypoplasia, small posterior fossa and absence of the lens secondary to early cataract extraction. The role of imaging is to suggest this syndrome in the differential diagnosis of small posterior fossa or hypoplastic cerebellum and congenital cataracts. The presence of characteristic clinical findings and history of consanguineous marriage help in reaching the final diagnosis.