Clinical Letter New-Onset Epilepsy Presenting as Non-Convulsive Status Epilepticus in Mucopolysaccharidosis type II: a case report

Mucopolysaccharidosis type II (MPS II) or Hunter syndrome is an X-linked lysosomal storage disease caused by a deficiency of the enzyme iduronate-2-sulfatase, which leads to the pathological accumulation of glycosaminoglycans in organs and tissues throughout the body, causing progressive multisystemic dysfunction. MPS II occurs predominantly in males and has an estimated prevalence of 1 in 100 000 male live births. The clinical presentation of MPS II is highly variable, and the disease is associated with a broad spectrum of severity.

Source: Seizure: European Journal of Epilepsy - November 22, 2023 Category: Neurology Authors: Giulia Cannizzaro, Manuela L'Erario, Francesca Piras, Anna Rosati, Elena Procopio Source Type: research