Abstract
Mucopolysaccharidoses (MPS) are a group of inherited, multisystem, lysosomal storage disorders involving specific lysosomal enzyme deficiencies that result in the accumulation of glycosaminoglycans (GAG) secondary to insufficient degradation within cell lysosomes. GAG accumulation affects both primary bone formation and secondary bone growth, resulting in growth impairment. Typical spinal manifestations in MPS are atlantoaxial instability, thoracolumbar kyphosis/scoliosis, and cervical/lumbar spinal canal stenosis. Spinal disorders and their severity depend on the MPS type and may be related to disease activity. Enzyme replacement therapy or hematopoietic stem cell transplantation has advantages regarding soft tissues; however, these therapeutic modalities are not effective for bone or cartilage and MPS-related bone deformity including the spine. Because spinal disorders show the most serious deterioration among patients with MPS, spinal surgeries are required although they are challenging and associated with high anesthesia-related risks. The aim of this review article is to provide the current comprehensive knowledge of representative spinal disease in MPS and its surgical management, including the related pathology, symptoms, and examinations.
Highlights
The mucopolysaccharidoses (MPS) are a group of inherited lysosomal storage disorders involving specific lysosomal enzyme deficiencies that result in accumulation of glycosaminoglycans (GAGs) because of insufficient degradation within cell lysosomes
Cervical stenosis is widely recognized in MPS I, II, VI, VII, and mucolipidosis [16] and is the main spinal problem in patients with MPS [38]
Establishing appropriate surgical indications for spinal disorders in MPS remains a challenge though guidelines of MPS have recently been launched [63,64]
Summary
The mucopolysaccharidoses (MPS) are a group of inherited lysosomal storage disorders involving specific lysosomal enzyme deficiencies that result in accumulation of glycosaminoglycans (GAGs) because of insufficient degradation within cell lysosomes. GAG accumulation in prenatal chondrocytes affects primary bone formation and results in severe skeletal manifestations. Once skeletal deformity is established, it is almost irreversible without surgical intervention [4,5] Features such as dysostosis multiplex, skeletal dysplasia, and resulting short stature suggest the diagnosis of MPS [6,7,8]. Typical spinal manifestations in MPS are atlantoaxial instability (with odontoid hypoplasia), thoracolumbar kyphosis/scoliosis (gibbus deformity), and cervical/lumbar developmental spinal canal stenosis. Spinal disorders and their severity depend on the MPS type and may be related to disease activity. Htraonwsepvlaern,ttahteiosne t(hHerSaCpTe)uthicas maoddvaalnittiaegseasrerengoatrdeiffnegctoirvgeainnsMsuPcSh-aresltahteedlivbeorn, eskdinef,oarnmdiotyth, ienrcsloufdt itnisgsuoef.tHheowspeivneer,,btheceaseustheeorfaptheeuitric pomoordpaelirtfiuessioarneinnotot ebfofencetiavnedincaMrtPilSa-gree.laTtehdubs,obnoendeedfoerfmorimtyi,tyinscllouwdilnygaodfvtahnecesps iwneit,hbeacgaeu, saenodfitthiesir anpouonrsoplevrefudspiornobinletmo broegnaeradnindgcaErRtiTla/HgeS.CTThu[1s7, ,b1o8n].eBdeecfaoursmeistypisnlaolwdliysoarddvearnscsehsowwitthheagme,oastnsdeirtioisuasn deutnesroiolrvaetdionpraombloenmg preagtiaerndtsinwgitEhRMT/PHSS, CspTin[a1l7s,1u8r]g.eBryecmauaysebesprienqaulirdeids,oardltehrosusghhoswurgtheerymisotsytpsiecrailolyus indveatseirvieoraantidonassaomcioantegd pwaittihenhtisghwainthesMthePsSi,a-srpeliantaeldsruisrkgser[y5].may be required, surgery is typiTchaellyaiimnvoafstihvies raenvdieawssaorctiiactleediswtoitphrohvigidheatnheescthuerrseian-trceolamtepdrerhiseknssi[v5e].knowledge of representative spinalTdhieseaasime inofMtPhSisanredviietswsuarrgtiicclael misantoagpemroevnidt eincthluedicnugrrtehnet rceolamtepdrephaetnhsoivloegyk,nsoywmlepdtogme so, f anredperxeasemnitnaatitvioenssp. inal disease in MPS and its surgical management including the related pathology, symptoms, and examinations
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