Koseoglu Selim T, Harmatz Paul, Turbeville Sean, Nicely Helen
Children's Hospital Oakland, 5275 Claremont Avenue, Oakland, CA 94618, USA.
Int Ophthalmol. 2009 Aug;29(4):267-9. doi: 10.1007/s10792-008-9213-7. Epub 2008 Apr 17.
MPS VI (mucopolysaccharidosis VI, known as Maroteaux-Lamy syndrome) is a multi-systemic inherited disease, resulting from a deficiency of N-acetylgalactosamine-4-sulfatase, causing accumulation of the glycosaminoglycan (GAG) dermatan sulfate in all tissues. It is one of almost 50 lysosomal storage disorders. Ocular pathology is common in patients with MPS VI, with complications including ocular hypertension, progressive corneal clouding, optic nerve swelling (or papilledema) often associated with communicating hydrocephalus (Ashworth et al., Eye 20(5), 553-563, 2006; Goldberg et al., AJO 69(6), 969-975), and raised intracranial pressure (ICP) progressing to atrophy with loss of vision (Goodrich et al., Loss of vision in MPS VI is a consequence of increased intracranial pressure, 2002). This is the first case report of reversed papilledema and improved visual acuity in an 11-year-old MPS VI patient receiving galsulfase (Naglazyme), an enzyme-replacement therapy (ERT) of recombinant human arylsulfatase B (rhASB) (Harmatz et al., J Pediatr 148(4), 533-539, 2006).
黏多糖贮积症VI型（mucopolysaccharidosis VI，又称马罗托-拉米综合征）是一种多系统遗传性疾病，由N - 乙酰半乳糖胺-4-硫酸酯酶缺乏引起，导致糖胺聚糖（GAG）硫酸皮肤素在所有组织中蓄积。它是近50种溶酶体贮积症之一。眼部病变在黏多糖贮积症VI型患者中很常见，并发症包括高眼压、进行性角膜混浊、视神经肿胀（或视乳头水肿），常与交通性脑积水相关（阿什沃思等人，《眼》20(5)，553 - 563，2006；戈德堡等人，《美国眼科杂志》69(6)，969 - 975），以及颅内压升高（ICP）进展为萎缩并导致视力丧失（古德里奇等人，《黏多糖贮积症VI型视力丧失是颅内压升高的结果》，2002）。这是首例关于一名11岁接受加硫酶（Naglazyme）治疗的黏多糖贮积症VI型患者视乳头水肿逆转和视力提高的病例报告，加硫酶是重组人芳基硫酸酯酶B（rhASB）的酶替代疗法（ERT）（哈马茨等人，《儿科学杂志》148(4)，533 - 539，2006）。
