Publication: Morquio disease with CNS involvement: a rare association
Date
2014
Journal Title
Journal ISSN
Volume Title
Publisher
Nepal Paediatric Society (JNPS)
Abstract
Abstract:
Morquio syndrome is a rare type of mucopolysaccharidosis. Our patient presented with uncontrolled seizures and gross skeletal deformity. He was suspected to be suffering from mucopolysaccharidosis based on his disease presentation but the diagnosis could be made as Morquio syndrome on the basis of the presence of keratan sulphate in the urine.
Description
Shinabi Pal
MBBS, MD, Post Graduate Trainee, Department of Paediatrics, RG Kar Medical College, Kolkata
Chandrashekhar Dey
MBBS, MD, Post Graduate Trainee, Department of Paediatrics, RG Kar Medical College, Kolkata
Nilanjan Ghosh
MBBS, RMO cum Clinical Tutor, Department of Paediatrics, RG Kar Medical College, Kolkata
Shabarna Roy
MBBS, RMO Cum Clinical Tutor, Paeditrics, Department of Paediatrics, RG Kar Medical College, Kolkata
Kaustav Nayek
Professor of Paediatrics, Department of Paediatrics, RG Kar Medical College, Kolkata
Malay Kumar Dasgupta
MBBS, MD, Professor of Paediatrics, Department of Paediatrics, RG Kar Medical College, Kolkata
Keywords
Morquio disease, mucopolysaccharidosis(MPS), glycosaminoglycans