Surgical Management of Spinal Disorders in People with Mucopolysaccharidoses

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.

Clinical Outcomes of Laminoplasty for Patients With Lysosomal Storage Disease Including Mucopolysaccharidosis and Mucolipidoses: a Retrospective Cohort Study

“…To establish the surgical strategy for cervical myelopathy of patients with LSDs, the evaluation of upper cervical level could be critical. The main stenotic cervical level of the patients with MPS was C1 due to the hypoplasticity of the C1 lamina in our series; some types of LSDs are often accompanied by atlantoaxial instability 12,13 . When atlantoaxial instability is evident, occipito-cervical xation, rather than cervical laminoplasty, with C1 laminectomy should be indicated.…”

“…Typical spinal manifestations among LSDs are atlantoaxial instability and cervical developmental spinal canal stenosis 12,13 . Spinal disorders and its severity are different depending on disease type and activity.…”

“…Among spinal disorders, the progression of cervical canal narrowing, and its resultant cervical myelopathy are critical challenges in patients with LSDs because these directly lead to the deterioration of the patients' QOL. Thus, patients who have cervical stenosis could require surgical intervention 13,16,17 .…”

Treating a teenager with Morquio A syndrome (mucopolysaccharidosis IV A) with Vimizim

“…Наличие признаков и симптомов миелопатии служит абсолютным показанием к операции. Относительными показаниями являются выраженная нестабильность (>8 мм) и изменение в спинном мозге (очаги миелопатии) по данным МРТ [32,33]. Минимальное пространство позвоночного канала, необходимое для нормального функционирования спинного мозга, не установлено.…”

Spinal cord compression in patients with mucopolysaccharidosis

“…In addition to frequent and severe cardiovascular and pulmonary complications, spinal abnormalities are also frequently diagnosed in MPS patients [2,7,8]. Clinical knowledge and data on some of these conditions have increased over recent years, including for the relevant, but up to now underestimated, spinal stenosis (SS) with secondary spinal cord compression (SCC) caused by GAG accumulation in the dura mater and surrounding spinal ligaments [9].…”