A rare case of mucopolysaccharidosis: Hunter syndrome
نویسندگان
چکیده
Hunter syndrome, or mucopolysaccharidosis type II (MPS II), is a member of a group of inherited metabolic disorders together termed mucopolysaccharidosis (MPSs). It is a rare, X-linked disorder caused by a deficiency of the lysosomal enzyme iduronate-2-sulfatase. The prevalence of this syndrome is 1:100,000 births. Insufficient enzyme activity results in accumulation of glycosaminoglycans (GAGS) in the lysosomes of various tissues and organs and leading to progressive multisystem pathologies. Here, we report a case of 13-year-old boy who presented with typical facial, skeletal and dental features without corneal clouding. It is possible that thorough and systematic clinical and radiological examination alone can help in diagnosis of this complex disorder.
منابع مشابه
Clinical presentation and diagnosis of mucopolysaccharidosis type 2 (Hunter syndrome).
+Pg Resident, *Head of unit, **assistant Professor, Dept. of Medicine, grant Medical College and sir J.J. group of Hospitals, Mumbai. Received: 01.10.2011; Revised: 16.07.2012; Re-revised: 03.12.2012; accepted: 11.01.2013 Abstract Introduction : We present a very rare case of mucopolysaccharidosis type II (Hunter syndrome). which presented as short stature, coarse facies, mild mental retardatio...
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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 fiv...
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BACKGROUND Carpal tunnel syndrome (CTS) is a rare finding in children, but heavily represented in pediatric patients with mucopolysaccharidoses. Diagnosis is a challenge due to lack of the stereotypical symptomatic complaints and relies on examination and objective nerve conduction studies. METHODS We present a case of delayed presentation of CTS in a 12-year-old boy with Hunter syndrome, fol...
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Hunter syndrome or type II mucopolysaccharidosis is a rare lysosomal storage disease of X-linked recessive inheritance. It is characterized by a lack of the enzyme iduronate 2 sulfatase (I2S), which leads to the accumulation of glycosaminoglycans in many cells and tissues, resulting in myocardiopathy, airway obstruction, skeletal deformities, and severe and progressive neurologic disturbances. ...
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Mucopolysaccharidoses (MPSs) are a group of rare genetic disorders within the larger family of lysosomal diseases. MPSs disorders are caused by a defi ciency in the activity of a specifi c lysosomal enzyme required for the degradation of glycosaminoglycans (GAGs). MPS type II, also called Hunter syndrome consists in a defi ciency of an enzyme, iduronate-2-sulphatase. We present a rare case of H...
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