Pediatric presentation of Marinesco –Sjögren syndrome with a novel SIL1 mutation in two siblings

Marinesco –Sjögren syndrome (MSS) is an autosomal recessive multisystem disorder characterized by cerebellar ataxia with cerebellar atrophy, early onset cataracts, progressive myopathy, hypotonia, and mild to severe intellectual disability. Children with MSS usually present with muscular hypotonia in early infancy; distal and proximal muscular weakness is noticed during the first decade of life. Diagnosis is based on a clinic approach including radiographic and neuroimaging studies, but ultimately based molecular genetics.

Source: Neuromuscular Disorders - September 10, 2016 Category: Neurology Authors: A. Ka çar Bayram, N. Bayram, S. Çırak, S. Doğanay, H. Gumus, H. Per Source Type: research