Cargando…
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...
Autores principales: | , , , , |
---|---|
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 |
_version_ | 1783637081224904704 |
---|---|
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. |
format | Online Article Text |
id | pubmed-7809250 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2021 |
publisher | Elsevier |
record_format | MEDLINE/PubMed |
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 |
work_keys_str_mv | AT sasakitomoaki dysostosisinmucopolysaccharidosistype2acaseoflongitudinalfollowupandliteraturereview AT ogatamiki dysostosisinmucopolysaccharidosistype2acaseoflongitudinalfollowupandliteraturereview AT kajihamaaya dysostosisinmucopolysaccharidosistype2acaseoflongitudinalfollowupandliteraturereview AT nakaukouichi dysostosisinmucopolysaccharidosistype2acaseoflongitudinalfollowupandliteraturereview AT okizakiatsutaka dysostosisinmucopolysaccharidosistype2acaseoflongitudinalfollowupandliteraturereview |