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CC BY-NC-ND 4.0 · J Lab Physicians 2020; 12(04): 285-288
DOI: 10.1055/s-0040-1722548
Case Report

Morquio Syndrome Presenting with Dural Band Pathology: A Case Report

Saloni Gupta
1   Departments of Lab Medicine, Jai Prakash Narayan Apex Trauma Center, AIIMS, New Delhi, India
,
Kangana Sengar
1   Departments of Lab Medicine, Jai Prakash Narayan Apex Trauma Center, AIIMS, New Delhi, India
,
Arulselvi Subramanian 
1   Departments of Lab Medicine, Jai Prakash Narayan Apex Trauma Center, AIIMS, New Delhi, India
,
Gurudatta Satyarthee
2   Departments of Neurosurgery, Jai Prakash Narayan Apex Trauma Center, AIIMS, New Delhi, India
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Abstract

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.

Keywords

cervicomedullary compression - dural calcification - Morquio syndrome


Publication History

Article published online:
30 December 2020

© 2020. The Indian Association of Laboratory Physicians. This is an open access article published by Thieme under the terms of the Creative Commons Attribution-NonDerivative-NonCommercial-License, permitting copying and reproduction so long as the original work is given appropriate credit. Contents may not be used for commercial purposes, or adapted, remixed, transformed or built upon. (https://creativecommons.org/licenses/by-nc-nd/4.0/).

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