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Morquio Syndrome Presenting with Dural Band Pathology: A Case Report.

Saloni GuptaKangana SengarSubramanian ArulselviGurudatta Satyarthee
Published in: Journal of laboratory physicians (2020)
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.
Keyphrases
  • case report
  • gene expression
  • minimally invasive
  • heart failure
  • spinal cord
  • systematic review
  • lymph node
  • coronary artery disease
  • neuropathic pain
  • atrial fibrillation
  • spinal cord injury
  • current status