Anesthetic management of achild with Marinesco Sjogren syndrome for cataract surgery.

We report the anesthetic management of a child diagnosed with Marinesco Sjogren syndrome (MSS) scheduled for bilateral lens aspiration.MSS is an autosomal recessive multisystem disorder clinically characterized by cerebellar ataxia, cataract, myopathy,global developmental delay, and variable intellect first described by Marinesco et al in 1931.1-3 The neuro-radiologic hallmarks include cerebellar hypoplasia and a small posterior fossa.1 Sixty percent of patients have been found to have SIL1 gene mutation linked to chromosome 5q31. PMID: 33124089 [PubMed - as supplied by publisher]
Source: Paediatric Anaesthesia - Category: Anesthesiology Authors: Tags: Paediatr Anaesth Source Type: research