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

Tomoaki Sasaki, Miki Ogata, Aya Kajihama, Kouichi Nakau, Atsutaka Okizaki

Research output: Contribution to journalArticlepeer-review

Abstract

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.

Original languageEnglish
Pages (from-to)656-660
Number of pages5
JournalRadiology Case Reports
Volume16
Issue number3
DOIs
Publication statusPublished - Mar 2021

Keywords

  • Cranial hyperostosis
  • Dysostosis
  • Mucopolysaccharidosis type 2

ASJC Scopus subject areas

  • Radiology Nuclear Medicine and imaging

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