Diagnosis of Hunter Syndrome (Mucopolysaccharidosis Type II) in a Resource Limited Setting: A Case Report from Zambia
نویسندگان
چکیده
Abstract
 Hunter syndrome is one of the Mucopolysaccharidosis (MPS), type II. It a rare genetic disorder due to deficiency in enzyme Iduronate 2-sulphatase. This leads accumulation glycosaminoglycans (GAGs) dermatan sulphate and heparan sulphate. The GAGs accumulate both intracellularly extracellularly, leading abnormalities different organ systems body. definitive diagnosis requires biochemical methods which can be challenge resource-limited settings, Zambia included. Presented here case Syndrome 12-year-old male child highlight clinical acumen as main ingredient making distinguishing types.
منابع مشابه
Atypical clinical presentation of mucopolysaccharidosis type II (Hunter syndrome): a case report
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...
متن کاملA rare case of mucopolysaccharidosis: Hunter syndrome
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...
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متن کاملClinical 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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OBJECTIVES Preimplantation genetic diagnosis (PGD) enables the identification of affected embryos prior to implantation. We present for the first time three families in which either the oocytes or embryos obtained from female carriers of mutations in the iduronate-2-sulfatase (IDS) gene underwent PGD for mucopolysaccharidosis type II (Hunter syndrome). Furthermore, we report the first ever deri...
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ژورنال
عنوان ژورنال: Medical journal of Zambia
سال: 2022
ISSN: ['0047-651X']
DOI: https://doi.org/10.55320/mjz.48.3.183