Mucopolysaccharidosis type II (Hunter's syndrome) – A clinical case report

Abstract

The authors present here a rare case of mucopolysaccharidosis type II (Hunter's Syndrome) with near-normal neurological milestones.Cardiac manifestations in the form of multi-valvular thickening with consequent regurgitant haemodynamics in the absence of cardiomyopathy was demonstrated in this patient with clinical and biochemical findings consistent with Hunter's Syndrome. Classical clinical and echocardiographic findings of this rare syndrome are described in context of the patient.