TY - JOUR
T1 - Dysostosis in mucopolysaccharidosis type 2
T2 - A case of longitudinal follow up and literature review
AU - Sasaki, Tomoaki
AU - Ogata, Miki
AU - Kajihama, Aya
AU - Nakau, Kouichi
AU - Okizaki, Atsutaka
N1 - Funding Information:
Acknowledgments: This work was supported by the Japan Society for the Promotion of Science Grant-in-Aid for Scientific Research grant no. 20K08136 (T.S.).
Publisher Copyright:
© 2021
PY - 2021/3
Y1 - 2021/3
N2 - 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.
AB - 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.
KW - Cranial hyperostosis
KW - Dysostosis
KW - Mucopolysaccharidosis type 2
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U2 - 10.1016/j.radcr.2021.01.003
DO - 10.1016/j.radcr.2021.01.003
M3 - Article
AN - SCOPUS:85098940122
SN - 1930-0433
VL - 16
SP - 656
EP - 660
JO - Radiology Case Reports
JF - Radiology Case Reports
IS - 3
ER -