Tuyển tập báo cáo các nghiên cứu khoa học quốc tế ngành y học dành cho các bạn tham khảo đề tài: Atypical clinical presentation of mucopolysaccharidosis type II (Hunter syndrome): a case report. | Shah et al. Journal of Medical Case Reports 2010 4 154 http content 4 1 154 jA CASE REPORTS CASE REPORT Open Access Atypical clinical presentation of mucopolysaccharidosis type II Hunter syndrome a case report Gauri ShankarShah Tania Mahal and Subodh Sharma Abstract Introduction We present a very rare case of mucopolysaccharidosis with atypical presentation such as mild mental retardation an acrocephalic head and no corneal clouding. The purpose of presenting this case is to highlight the distinctive manifestation of mucopolysaccharidosis type II Hunter syndrome . Case presentation A 10-year-old East Asian boy presented with abdominal distension of five years duration and complained of shortness of breath on and off for the same period. On examination his head was large and his head circumference was cm. His neck was short he had coarse facial features a depressed nasal bridge and small stubby fingers with flexion of distal interphalangeal joints and a low arched palate was observed. There was mild mental retardation. Conclusion Based on clinical findings and radiological features it is possible to diagnose a case of mucopolysaccharidosis. Careful and systemic approach is needed to accurately diagnose the exact type as enzymatic studies are not available in most centers. Introduction 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 . These are long chains of sugar carbohydrates in each cell that help build bone cartilage tendons corneas skin and connective tissues. Glycosaminoglycans formerly called mucopolysaccharides are also found in the fluid that lubricates joints. People with MPS either do not produce enough of one of the 11 enzymes required to break down these sugar chains into proteins and simpler molecules or they produce enzymes that do not work .
