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...
| Main Authors: | , , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
Wiley
2021-11-01
|
| Series: | Clinical Case Reports |
| Subjects: | |
| Online Access: | https://doi.org/10.1002/ccr3.5122 |
| _version_ | 1818722211203121152 |
|---|---|
| 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 |
| collection | DOAJ |
| 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. |
| first_indexed | 2024-12-17T20:51:01Z |
| format | Article |
| id | doaj.art-1dc4fdd3a9c3433189ab241c16aa614d |
| institution | Directory Open Access Journal |
| issn | 2050-0904 |
| language | English |
| last_indexed | 2024-12-17T20:51:01Z |
| publishDate | 2021-11-01 |
| publisher | Wiley |
| record_format | Article |
| series | Clinical Case Reports |
| spelling | doaj.art-1dc4fdd3a9c3433189ab241c16aa614d2022-12-21T21:33:02ZengWileyClinical Case Reports2050-09042021-11-01911n/an/a10.1002/ccr3.5122A 1‐year and 4‐month‐old child with mucopolysaccharidoses type II: A clinical case report from EthiopiaSolomie Jebessa Deribessa0Mekdes Endale Bisrat1Zewdu Terefework2Shane C. Quinonez3Department of Pediatrics and Child Health St. Paul's Hospital Millennium Medical College Addis Ababa EthiopiaDepartment of Pediatrics and Child Health St. Paul's Hospital Millennium Medical College Addis Ababa EthiopiaMRC‐ETAdvanced Laboratory Addis Ababa EthiopiaDepartement of Pediatrics and Communicable Disease Division of Genetics, Metabolism and Genomic Medicine University of Michigan Ann Arbor Michigan USAAbstract 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.https://doi.org/10.1002/ccr3.5122glycosaminoglycansHunter syndromeiduronate‐2‐sulfatasemucopolysaccharidosis |
| spellingShingle | 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 Clinical Case Reports glycosaminoglycans Hunter syndrome iduronate‐2‐sulfatase mucopolysaccharidosis |
| title | 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_short | 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 |
| topic | glycosaminoglycans Hunter syndrome iduronate‐2‐sulfatase mucopolysaccharidosis |
| url | https://doi.org/10.1002/ccr3.5122 |
| work_keys_str_mv | AT solomiejebessaderibessa a1yearand4montholdchildwithmucopolysaccharidosestypeiiaclinicalcasereportfromethiopia AT mekdesendalebisrat a1yearand4montholdchildwithmucopolysaccharidosestypeiiaclinicalcasereportfromethiopia AT zewduterefework a1yearand4montholdchildwithmucopolysaccharidosestypeiiaclinicalcasereportfromethiopia AT shanecquinonez a1yearand4montholdchildwithmucopolysaccharidosestypeiiaclinicalcasereportfromethiopia AT solomiejebessaderibessa 1yearand4montholdchildwithmucopolysaccharidosestypeiiaclinicalcasereportfromethiopia AT mekdesendalebisrat 1yearand4montholdchildwithmucopolysaccharidosestypeiiaclinicalcasereportfromethiopia AT zewduterefework 1yearand4montholdchildwithmucopolysaccharidosestypeiiaclinicalcasereportfromethiopia AT shanecquinonez 1yearand4montholdchildwithmucopolysaccharidosestypeiiaclinicalcasereportfromethiopia |