Hunter syndrome presenting as heart failure: A case report

Abstract

Introduction: Hunter syndrome (Mucopolysaccharidosis type II, MPS II) is a genetic disorder associated with deficiency of lysosomal enzyme iduronate­2­sulfatase and impairment of glycosaminoglycans (GAGs) metabolism. Hunter syndrome is well described in medical literature but less is known about heart failure. We are presenting a rare case of Hunter­syndrome with heart failure. Case Report: A 17­year­old boy presented to emergency department with chief complaint of dyspnea on exertion for last seven days. He also had history of progressive abdominal swelling since five years of age. On examination, he was tachypneic with raised jugular venous pressure and bilateral pitting pedal edema. His head was dolicocephalic in shape with coarse facial features. His abdomen was distended with hepatosplenomegaly and an umbilical hernia. He has one younger brother with similar clinical profile and one normal younger sister. Suspecting mucopolysaccharidosis, we performed a skeletal survey. A lateral X­ray of the skull showed an enlarged and J­shaped sella turcica. Patient’s and his brother’s enzyme assays for iduronate­2­sulfatase were markedly low. Based on the clinicoradiological and enzyme assay diagnosis of Hunter syndrome (MPS II) was made. Conclusion: Various clinical and radiological features are typical of MPS II. A detailed clinical evaluation and radiological investigations help in diagnosis of MPS II. The enzyme assay is required to confirm the diagnosis.