Gupta Saloni, Sengar Kangana, Subramanian Arulselvi, Satyarthee Gurudatta
Departments of Lab Medicine, Jai Prakash Narayan Apex Trauma Center, AIIMS, New Delhi, India.
Departments of Neurosurgery, Jai Prakash Narayan Apex Trauma Center, AIIMS, New Delhi, India.
J Lab Physicians. 2020 Dec;12(4):285-288. doi: 10.1055/s-0040-1722548. Epub 2020 Dec 30.
Morquio syndrome is caused by the deficiency of N-acetylgalactosamine-6-sulfate sulfatase (GALNS) enzyme, which is required for the catabolism of glycosaminoglycans (namely, chondroitin-6-sulfate and keratan sulfate). Pathogenic accumulation of these glycosaminoglycans occurs throughout the body. The various organs and tissues affected are bones, cartilage, tendon, teeth, trachea and lungs, heart, cornea, skin and connective tissues. Here, we present a case of Morquio syndrome. A 16-year-old boy presented with multiple skeletal abnormalities, including cervicomedullary compression by dorsal dural band in foramen magnum. The dural band was resected during the surgery to relieve compression and sent for histopathological examination. This case report not only reviews the clinical features and shows rare dural band histopathological findings but also mentions a note on the future therapies of this syndrome.
黏多糖贮积症IV型是由N-乙酰半乳糖胺-6-硫酸硫酸酯酶（GALNS）缺乏引起的，该酶是糖胺聚糖（即硫酸软骨素-6和硫酸角质素）分解代谢所必需的。这些糖胺聚糖在全身发生致病性蓄积。受影响的各种器官和组织包括骨骼、软骨、肌腱、牙齿、气管和肺、心脏、角膜、皮肤和结缔组织。在此，我们报告一例黏多糖贮积症IV型病例。一名16岁男孩出现多处骨骼异常，包括枕大孔处硬脊膜带导致的颈髓压迫。手术中切除硬脊膜带以缓解压迫，并送去进行组织病理学检查。本病例报告不仅回顾了临床特征并展示了罕见的硬脊膜带组织病理学发现，还提及了关于该综合征未来治疗的注意事项。
