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Dysostosis in mucopolysaccharidosis type 2: A case of longitudinal follow up and literature review

Mucopolysaccharidosis type 2 is a congenital lysosomal disease characterized by iduronate-2-sulfatase deficiency, which leads to excessive accumulation of glycosaminoglycans in tissue. Dysostosis, which primarily involves decreased bone mineralization with morphological changes in the bone, is a maj...

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Autores principales: Sasaki, Tomoaki, Ogata, Miki, Kajihama, Aya, Nakau, Kouichi, Okizaki, Atsutaka
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7809250/
https://www.ncbi.nlm.nih.gov/pubmed/33488893
http://dx.doi.org/10.1016/j.radcr.2021.01.003
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author Sasaki, Tomoaki
Ogata, Miki
Kajihama, Aya
Nakau, Kouichi
Okizaki, Atsutaka
author_facet Sasaki, Tomoaki
Ogata, Miki
Kajihama, Aya
Nakau, Kouichi
Okizaki, Atsutaka
author_sort Sasaki, Tomoaki
collection PubMed
description Mucopolysaccharidosis type 2 is a congenital lysosomal disease characterized by iduronate-2-sulfatase deficiency, which leads to excessive accumulation of glycosaminoglycans in tissue. Dysostosis, which primarily involves decreased bone mineralization with morphological changes in the bone, is a major skeletal condition in mucopolysaccharidosis, but its pathophysiology is not well known. Here, we report a case of mucopolysaccharidosis type 2 diagnosed at the age of 2 years with longitudinal follow-up data for more than 15 years. Although the patient underwent bone marrow transplantation, the developmental quotient did not improve, and cranial hyperostosis progressed prominently with a faintly dilated perivascular space. Other dysostoses and contraction of the joints were observed but did not improve either.
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spelling pubmed-78092502021-01-22 Dysostosis in mucopolysaccharidosis type 2: A case of longitudinal follow up and literature review Sasaki, Tomoaki Ogata, Miki Kajihama, Aya Nakau, Kouichi Okizaki, Atsutaka Radiol Case Rep Case Report Mucopolysaccharidosis type 2 is a congenital lysosomal disease characterized by iduronate-2-sulfatase deficiency, which leads to excessive accumulation of glycosaminoglycans in tissue. Dysostosis, which primarily involves decreased bone mineralization with morphological changes in the bone, is a major skeletal condition in mucopolysaccharidosis, but its pathophysiology is not well known. Here, we report a case of mucopolysaccharidosis type 2 diagnosed at the age of 2 years with longitudinal follow-up data for more than 15 years. Although the patient underwent bone marrow transplantation, the developmental quotient did not improve, and cranial hyperostosis progressed prominently with a faintly dilated perivascular space. Other dysostoses and contraction of the joints were observed but did not improve either. Elsevier 2021-01-08 /pmc/articles/PMC7809250/ /pubmed/33488893 http://dx.doi.org/10.1016/j.radcr.2021.01.003 Text en © 2021 Published by Elsevier Inc. on behalf of University of Washington. http://creativecommons.org/licenses/by-nc-nd/4.0/ This is an open access article under the CC BY-NC-ND license (http://creativecommons.org/licenses/by-nc-nd/4.0/).
spellingShingle Case Report
Sasaki, Tomoaki
Ogata, Miki
Kajihama, Aya
Nakau, Kouichi
Okizaki, Atsutaka
Dysostosis in mucopolysaccharidosis type 2: A case of longitudinal follow up and literature review
title Dysostosis in mucopolysaccharidosis type 2: A case of longitudinal follow up and literature review
title_full Dysostosis in mucopolysaccharidosis type 2: A case of longitudinal follow up and literature review
title_fullStr Dysostosis in mucopolysaccharidosis type 2: A case of longitudinal follow up and literature review
title_full_unstemmed Dysostosis in mucopolysaccharidosis type 2: A case of longitudinal follow up and literature review
title_short Dysostosis in mucopolysaccharidosis type 2: A case of longitudinal follow up and literature review
title_sort dysostosis in mucopolysaccharidosis type 2: a case of longitudinal follow up and literature review
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7809250/
https://www.ncbi.nlm.nih.gov/pubmed/33488893
http://dx.doi.org/10.1016/j.radcr.2021.01.003
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