A 1‐year and 4‐month‐old child with mucopolysaccharidoses type II: A clinical case report from Ethiopia
dc.contributor.author | Deribessa, Solomie Jebessa | |
dc.contributor.author | Bisrat, Mekdes Endale | |
dc.contributor.author | Terefework, Zewdu | |
dc.contributor.author | Quinonez, Shane C. | |
dc.date.accessioned | 2021-12-02T02:30:19Z | |
dc.date.available | 2022-12-01 21:30:18 | en |
dc.date.available | 2021-12-02T02:30:19Z | |
dc.date.issued | 2021-11 | |
dc.identifier.citation | Deribessa, Solomie Jebessa; Bisrat, Mekdes Endale; Terefework, Zewdu; Quinonez, Shane C. (2021). "A 1‐year and 4‐month‐old child with mucopolysaccharidoses type II: A clinical case report from Ethiopia." Clinical Case Reports (11): n/a-n/a. | |
dc.identifier.issn | 2050-0904 | |
dc.identifier.issn | 2050-0904 | |
dc.identifier.uri | https://hdl.handle.net/2027.42/171000 | |
dc.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.Mucopolysaccharidosis type II/Hunter syndrome is an X‐linked recessive lysosomal storage disorder. We report a 1‐year and 4‐month‐old boy with coarse facial appearance, macrocephaly, dermal melanocytosis, widened wrists, kyphotic deformity, and left‐sided inguinal hernia, consistent with MPS II, subsequently confirmed with genetic tests. There is no family history, parents are counselled. | |
dc.publisher | Elsevier | |
dc.publisher | Wiley Periodicals, Inc. | |
dc.subject.other | iduronate‐2‐sulfatase | |
dc.subject.other | glycosaminoglycans | |
dc.subject.other | Hunter syndrome | |
dc.subject.other | mucopolysaccharidosis | |
dc.title | A 1‐year and 4‐month‐old child with mucopolysaccharidoses type II: A clinical case report from Ethiopia | |
dc.type | Article | |
dc.rights.robots | IndexNoFollow | |
dc.subject.hlbsecondlevel | Internal Medicine | |
dc.subject.hlbtoplevel | Health Sciences | |
dc.description.peerreviewed | Peer Reviewed | |
dc.description.bitstreamurl | http://deepblue.lib.umich.edu/bitstream/2027.42/171000/1/ccr35122_am.pdf | |
dc.description.bitstreamurl | http://deepblue.lib.umich.edu/bitstream/2027.42/171000/2/ccr35122.pdf | |
dc.identifier.doi | 10.1002/ccr3.5122 | |
dc.identifier.source | Clinical Case Reports | |
dc.identifier.citedreference | Bunge S, Rathmann M, Steglich C, et al. Homologous nonallelic recombinations between the iduronate‐sulfatase gene and pseudogene cause various intragenic deletions and inversions in patients with mucopolysaccharidosis type II. Eur J Hum Genet. 1998; 6: 492 ‐ 500. | |
dc.identifier.citedreference | Stenson PD, Ball EV, Mort M, et al. Human Gene Mutation Database (HGMD): 2003 update. Hum Mutat. 2003; 21 ( 6 ): 577 ‐ 581. | |
dc.identifier.citedreference | Jürgen W S. Mucopolysaccharidoses. In: Robert M K, Joseph W st G, Nathan J B, Samir S S, Robert C T, Karen M W, Richard E B, eds. Nelson Text Book of Pediatrics. Elsevier; 2016: 1551 ‐ 1552. | |
dc.identifier.citedreference | Guillén‐Navarro E, Domingo‐Jiménez M, Alcalde‐Martín C, et al. Clinical manifestations in female carriers of mucopolysaccharidosis type II: a Spanish cross‐sectional study. Orphanet J Rare Dis. 2013; 8 ( 1 ): 92. | |
dc.identifier.citedreference | Khan SA, Peracha H, Ballhausen D, et al. Epidemiology of mucopolysaccharidoses. Mol Genet Metab. 2017; 121 ( 3 ): 227 ‐ 240. doi: 10.1016/j.ymgme.2017.05.016 | |
dc.identifier.citedreference | Germaine LD. Hunter syndrome (mucopolysaccharidosis type II): background, pathophysiology, epidemiology. EMedicine, 4 2018, emedicine.medscape.com/article/944723‐overview#:~:text=In%201917%20at%20The%20Royal. Accessed February 5, 2021. | |
dc.identifier.citedreference | Burton BK, Jego V, Mikl J, Jones SA. Survival in idursulfase‐treated and untreated patients with mucopolysaccharidosis type II: data from the Hunter Outcome Survey (HOS). J Inherit Metab Dis. 2017; 40 ( 6 ): 867 ‐ 874. | |
dc.identifier.citedreference | Richter T, Nestler‐Parr S, Babela R, et al. Rare disease terminology and definitions‐a systematic global review: report of the ISPOR rare disease special interest group. Value Health. 2015; 18 ( 6 ): 906 ‐ 914. | |
dc.identifier.citedreference | Alkhalil M, Alabsi M, Alabsi N. Hunter syndrome. Br J Med Med Res. 2016; 15 ( 12 ): 1 ‐ 7. | |
dc.identifier.citedreference | Schouten JP, McElgunn CJ, Waaijer R, Zwijnenburg D, Diepvens F, Pals G. Relative quantification of 40 nucleic acid sequences by multiplex ligation‐dependent probe amplification. Nucleic Acids Res. 2002; 30 ( 12 ): 57e ‐ 57. doi: 10.1093/nar/gnf056 | |
dc.identifier.citedreference | Birot AM, Bouton O, Froissart R, Maire I, Bozon D. IDS Gene‐pseudogene exchange responsible for an intragenic deletion in a Hunter patient. Hum Mutat. 1996; 8: 44 ‐ 50. | |
dc.identifier.citedreference | Froissart R, Da Silva IM, Maire I. Mucopolysaccharidosis type II: an update on mutation spectrum. Acta Paediatr Suppl. 2007; 96: 71 ‐ 77. | |
dc.identifier.citedreference | Lin HY, Tu RY, Chern SR, et al. Identification and functional characterization of IDS gene mutations underlying Taiwanese Hunter syndrome (Mucopolysaccharidosis type II). Int J Mol Sci. 2019; 21 ( 1 ): 114. | |
dc.identifier.citedreference | Karsten S, Voskoboeva E, Krasnopolskaja X, Bondeson ML. Novel type of genetic rearrangement in the iduronate‐2‐sulfatase (IDS) gene involving deletion, duplications, and inversions. Hum Mutat. 1999; 14 ( 6 ): 471 ‐ 476. doi: 10.1002/(SICI)1098‐1004(199912)14:6<471:AID‐HUMU5>3.0.CO;2‐5 | |
dc.identifier.citedreference | Galvis J, Gonzáles J, Uribe A, Velasco H. Deep genotyping of the IDS gene in Colombian patients with Hunter syndrome. JIMD Rep. 2015; 19: 101 ‐ 109. | |
dc.working.doi | NO | en |
dc.owningcollname | Interdisciplinary and Peer-Reviewed |
Files in this item
Remediation of Harmful Language
The University of Michigan Library aims to describe library materials in a way that respects the people and communities who create, use, and are represented in our collections. Report harmful or offensive language in catalog records, finding aids, or elsewhere in our collections anonymously through our metadata feedback form. More information at Remediation of Harmful Language.
Accessibility
If you are unable to use this file in its current format, please select the Contact Us link and we can modify it to make it more accessible to you.