人類遺伝学と発生学

A Rare Association of Hunter Syndrome (Mucopolysaccharidosis Type II) with Ventricular Septal Defect

Abstract

Rahul Sinha, Rajbir Singh Beniwal and Sween Sheoran

Mucopolysaccharidosis (MPS) is a group of autosomal recessive metabolic disorders caused by the absence or malfunctioning of the lysosomal enzymes needed to break down molecules called glycosaminoglycans (GAGs). All the MPSs are inherited in an autosomal recessive fashion except Hunter syndrome (MPS type II), which is X-linked. Common clinical presentation includes facial dysmorphism, hepatosplenomegaly, joint stiffness and contractures, pulmonary dysfuction, myocardial enlargement and valvular dysfunction and neurological involvement. We report 17 yr old boy with features suggestive of Hunter syndrome associated with ventricular septal defect.