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

• Main Authors: Tomoaki Sasaki, MD, PhD, Miki Ogata, MD, Aya Kajihama, MD, Kouichi Nakau, MD, Atsutaka Okizaki, MD, PhD
• Format: Article
• Language: English
• Published: Elsevier 2021-03-01
• Series: Radiology Case Reports
• Subjects: Mucopolysaccharidosis type 2; Dysostosis; Cranial hyperostosis
• Online Access: http://www.sciencedirect.com/science/article/pii/S1930043321000030

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.