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

Radiology Case Reports - Tập 16 - Trang 656-660 - 2021
Tomoaki Sasaki1, Miki Ogata2, Aya Kajihama3, Kouichi Nakau3, Atsutaka Okizaki2
1Department of Radiological Technology, Graduate School of Health Sciences, Okayama University, 2-5-1, Shikata-cho, Kita-ku, Okayama 700-8558, Japan
2Department of Radiology, Asahikawa Medical University, Asahikawa, Japan
3Department of Pediatrics, Asahikawa Medical University, Asahikawa, Japan

Tài liệu tham khảo

Morini, 2010, Mucopolysaccharidosis type II: skeletal-muscle system involvement, J Pediatr Orthop B, 19, 313, 10.1097/BPB.0b013e3283317b7a Laoharawee, 2017, Prevention of neurocognitive deficiency in mucopolysaccharidosis type II mice by central nervous system-directed, AAV9-mediated iduronate sulfatase gene transfer, Hum Gene Ther, 28, 626, 10.1089/hum.2016.184 Tylki-Szymańska, 2014, Mucopolysaccharidosis type II, Hunter's syndrome, Pediatr Endocrinol Rev, 12, 107 Wraith, 2014, Mucopolysaccharidosis type I, Pediatr Endocrinol Rev, 12, 102 Nicolas-Jilwan, 2018, Mucopolysaccharidoses: Overview of neuroimaging manifestations, Pediatr Radiol, 48, 1503, 10.1007/s00247-018-4139-3 McAlister, 2002, Osteochondrodysplasias, dysostoses, chromosomal aberrations, mucopolysaccharidoses, and mucolipidoses, 4449 Chavhan, 2010, Twenty classic hand radiographs that lead to diagnosis, Pediatr Radiol, 40, 747, 10.1007/s00247-009-1520-2 Pievani, 2015, Neonatal bone marrow transplantation prevents bone pathology in a mouse model of mucopolysaccharidosis type I, Blood, 125, 1662, 10.1182/blood-2014-06-581207 Guffon, 2009, Bone marrow transplantation in children with Hunter syndrome: outcome after 7 to 17 years, J Pediatr, 154, 733, 10.1016/j.jpeds.2008.11.041 Scarpa M. Mucopolysaccharidosis type II. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, et al., eds. GeneReviews(®). Seattle (WA): University of Washington, Seattle. Patel, 2014, Growth charts for patients with Hunter syndrome, Mol Genet Metab Rep, 1, 5, 10.1016/j.ymgmr.2013.10.001 Tomatsu, 2012, Impairment of Body Growth in Mucopolysaccharidoses, 2091 Montaño, 2008, Growth charts for patients affected with Morquio A disease, Am J Med Genet A, 146A, 1286, 10.1002/ajmg.a.32281 Trowbridge, 2002, Dermatan sulfate: new functions from an old glycosaminoglycan, Glycobiology, 12, 117R, 10.1093/glycob/cwf066 Gonzalez, 2018, Cathepsin B inhibition attenuates cardiovascular pathology in mucopolysaccharidosis I mice, Life Sci, 196, 102, 10.1016/j.lfs.2018.01.020 Baldo, 2011, Pathogenesis of aortic dilatation in mucopolysaccharidosis VII mice may involve complement activation, Mol Genet Metab, 104, 608, 10.1016/j.ymgme.2011.08.018 Wilson, 2009, Glycosaminoglycan-mediated loss of cathepsin K collagenolytic activity in MPS I contributes to osteoclast and growth plate abnormalities, Am J Pathol, 175, 2053, 10.2353/ajpath.2009.090211 Li, 2002, Collagenase activity of cathepsin K depends on complex formation with chondroitin sulfate, J Biol Chem, 277, 28669, 10.1074/jbc.M204004200 Mizumoto, 2017, Pathophysiological significance of dermatan sulfate proteoglycans revealed by human genetic disorders, Pharmaceuticals (Basel), 10, 34, 10.3390/ph10020034 Tajima, 2013, Effects of idursulfase enzyme replacement therapy for mucopolysaccharidosis type II when started in early infancy: Comparison in two siblings, Mol Genet Metab, 108, 172, 10.1016/j.ymgme.2012.12.010 Singh, 2019, Iduronate-2-sulfatase-regulated dermatan sulfate levels potentiate the invasion of breast cancer epithelia through collagen matrix, J Clin Med, 8, 1562, 10.3390/jcm8101562 Koźma, 2014, Complex influence of dermatan sulphate on breast cancer cells, Exp Biol Med (Maywood), 239, 1575, 10.1177/1535370214538590 Bank, 2009, Deficiency in N-acetylgalactosamine-6-sulfate sulfatase results in collagen perturbations in cartilage of Morquio syndrome A patients, Mol Genet Metab, 97, 196, 10.1016/j.ymgme.2009.03.008 Stevenson, 2014, Biomarkers of bone remodeling in children with mucopolysaccharidosis types I, II, and VI, J Pediatr Rehabil Med, 7, 159, 10.3233/PRM-140285 Salvador, 2017, Lysyl oxidase-like protein LOXL2 promotes lung metastasis of breast cancer, Cancer Res, 77, 5846, 10.1158/0008-5472.CAN-16-3152 Wang, 2016, Lysyl oxidase and the tumor microenvironment, Int J Mol Sci, 18, 62, 10.3390/ijms18010062 Vallet, 2018, Insights into the structure and dynamics of lysyl oxidase propeptide, a flexible protein with numerous partners, Sci Rep, 8, 11768, 10.1038/s41598-018-30190-6 Fisher, 2006, Tumor cell invasion of collagen matrices requires coordinate lipid agonist-induced G-protein and membrane-type matrix metalloproteinase-1-dependent signaling, Mol Cancer, 5, 69, 10.1186/1476-4598-5-69 Wang, 2019, Identification and characterization of the lamprey cathepsin genes, Immunogenetics, 71, 421, 10.1007/s00251-019-01117-w Nygaard, 2017, Skeletal muscle morphology, protein synthesis, and gene expression in Ehlers-Danlos syndrome, J Appl Physiol, 123, 482, 10.1152/japplphysiol.01044.2016 Kubaski, 2020, Mucopolysaccharidosis type I, Diagnostics (Basel), 10, 161, 10.3390/diagnostics10030161 Bigg, 2013, Pathogenesis of mitral valve disease in mucopolysaccharidosis VII dogs, Mol Genet Metab, 110, 319, 10.1016/j.ymgme.2013.06.013 Manara, 2011, Brain and spine MRI features of Hunter disease: frequency, natural evolution and response to therapy, J Inherit Metab Dis, 34, 763, 10.1007/s10545-011-9317-5 Smith, 2015, GAG-ing with the neuron": the role of glycosaminoglycan patterning in the central nervous system, Exp Neurol, 274, 100, 10.1016/j.expneurol.2015.08.004 May, 2012, Intracranial volume, cranial thickness, and hyperostosis frontalis interna in the elderly, Am J Hum Biol, 24, 812, 10.1002/ajhb.22325