Atypical clinical presentation of mucopolysaccharidosis type II (Hunter syndrome): a case report

Gauri Shankar Shah,Subodh Sharma,Tania Mahal

doi:10.1186/1752-1947-4-154

Gauri Shankar Shah, Subodh Sharma + Show 1 more

Open Access

https://doi.org/10.1186/1752-1947-4-154

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Abstract

IntroductionWe 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 presentationA 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 54.5 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.ConclusionBased 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.

Highlights

We present a very rare case of mucopolysaccharidosis with atypical presentation such as mild mental retardation, an acrocephalic head and no corneal clouding
Based on clinical findings and radiological features it is possible to diagnose a case of mucopolysaccharidosis
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)

Summary

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. 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 properly Over time, these GAGs collect in the cells, blood and connective tissues. No parenchymal lesions were seen in visualized lung fluids His radiological features were suggestive of MPS, without determining the type of MPS, from his history and clinical examination we have made a diagnosis of MPS type II (Hunter syndrome). Our diagnosis of MPS was confirmed from his history, clinical examination and skeletal survey

Discussion

Conclusion