A 1‐year and 4‐month‐old child with mucopolysaccharidoses type II: A clinical case report from Ethiopia

Abstract Mucopolysaccharidoses (MPSs) are a class of lysosomal storage disorders resulting in progressive disease manifestations and are caused by pathogenic variants in genes coding for enzymes needed to degrade glycosaminoglycans. While most of the seven MPSs are autosomal recessive disorders, MPS...

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Autores principales:	Solomie Jebessa Deribessa, Mekdes Endale Bisrat, Zewdu Terefework, Shane C. Quinonez
Formato:	article
Lenguaje:	EN
Publicado:	Wiley 2021
Materias:	glycosaminoglycans Hunter syndrome iduronate‐2‐sulfatase mucopolysaccharidosis Medicine R Medicine (General) R5-920
Acceso en línea:	https://doaj.org/article/1dc4fdd3a9c3433189ab241c16aa614d
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spelling	oai:doaj.org-article:1dc4fdd3a9c3433189ab241c16aa614d2021-12-01T06:36:09ZA 1‐year and 4‐month‐old child with mucopolysaccharidoses type II: A clinical case report from Ethiopia2050-090410.1002/ccr3.5122https://doaj.org/article/1dc4fdd3a9c3433189ab241c16aa614d2021-11-01T00:00:00Zhttps://doi.org/10.1002/ccr3.5122https://doaj.org/toc/2050-0904Abstract Mucopolysaccharidoses (MPSs) are a class of lysosomal storage disorders resulting in progressive disease manifestations and are caused by pathogenic variants in genes coding for enzymes needed to degrade glycosaminoglycans. While most of the seven MPSs are autosomal recessive disorders, MPS II, also known as Hunter syndrome, is inherited in an X‐linked recessive manner and is the most common MPS. Here, we report a 1‐year and 4‐month‐old boy who presented with delayed developmental milestones, back deformity, and left scrotal swelling noticed by parents at one year of age. He has coarse facial appearance with macrocephaly, widened wrists, congenital dermal melanocytosis on his back, kyphotic deformity in the thoracolumbar area and left‐sided inguinal hernia all consistent with a suspected MPS II diagnosis. The MPS II diagnosis was subsequently confirmed with genetic testing of the IDS gene. To our knowledge, this is the first case of MPS II reported from Ethiopia. This case shows the importance of early clinical recognition of genetic conditions and the utility of genetic testing for confirmation. The diagnosis provided important surveillance and natural history information for the patient's providers and family.Solomie Jebessa DeribessaMekdes Endale BisratZewdu TerefeworkShane C. QuinonezWileyarticleglycosaminoglycansHunter syndromeiduronate‐2‐sulfatasemucopolysaccharidosisMedicineRMedicine (General)R5-920ENClinical Case Reports, Vol 9, Iss 11, Pp n/a-n/a (2021)
institution	DOAJ
collection	DOAJ
language	EN
topic	glycosaminoglycans Hunter syndrome iduronate‐2‐sulfatase mucopolysaccharidosis Medicine R Medicine (General) R5-920
spellingShingle	glycosaminoglycans Hunter syndrome iduronate‐2‐sulfatase mucopolysaccharidosis Medicine R Medicine (General) R5-920 Solomie Jebessa Deribessa Mekdes Endale Bisrat Zewdu Terefework Shane C. Quinonez A 1‐year and 4‐month‐old child with mucopolysaccharidoses type II: A clinical case report from Ethiopia
description	Abstract Mucopolysaccharidoses (MPSs) are a class of lysosomal storage disorders resulting in progressive disease manifestations and are caused by pathogenic variants in genes coding for enzymes needed to degrade glycosaminoglycans. While most of the seven MPSs are autosomal recessive disorders, MPS II, also known as Hunter syndrome, is inherited in an X‐linked recessive manner and is the most common MPS. Here, we report a 1‐year and 4‐month‐old boy who presented with delayed developmental milestones, back deformity, and left scrotal swelling noticed by parents at one year of age. He has coarse facial appearance with macrocephaly, widened wrists, congenital dermal melanocytosis on his back, kyphotic deformity in the thoracolumbar area and left‐sided inguinal hernia all consistent with a suspected MPS II diagnosis. The MPS II diagnosis was subsequently confirmed with genetic testing of the IDS gene. To our knowledge, this is the first case of MPS II reported from Ethiopia. This case shows the importance of early clinical recognition of genetic conditions and the utility of genetic testing for confirmation. The diagnosis provided important surveillance and natural history information for the patient's providers and family.
format	article
author	Solomie Jebessa Deribessa Mekdes Endale Bisrat Zewdu Terefework Shane C. Quinonez
author_facet	Solomie Jebessa Deribessa Mekdes Endale Bisrat Zewdu Terefework Shane C. Quinonez
author_sort	Solomie Jebessa Deribessa
title	A 1‐year and 4‐month‐old child with mucopolysaccharidoses type II: A clinical case report from Ethiopia
title_short	A 1‐year and 4‐month‐old child with mucopolysaccharidoses type II: A clinical case report from Ethiopia
title_full	A 1‐year and 4‐month‐old child with mucopolysaccharidoses type II: A clinical case report from Ethiopia
title_fullStr	A 1‐year and 4‐month‐old child with mucopolysaccharidoses type II: A clinical case report from Ethiopia
title_full_unstemmed	A 1‐year and 4‐month‐old child with mucopolysaccharidoses type II: A clinical case report from Ethiopia
title_sort	1‐year and 4‐month‐old child with mucopolysaccharidoses type ii: a clinical case report from ethiopia
publisher	Wiley
publishDate	2021
url	https://doaj.org/article/1dc4fdd3a9c3433189ab241c16aa614d
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A 1‐year and 4‐month‐old child with mucopolysaccharidoses type II: A clinical case report from Ethiopia

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