Downloading: A Case Report of Mucopolysaccharidoses Type 4 (Morquio Syndrome)
International Journal of Science and Research (IJSR)

International Journal of Science and Research (IJSR) | Open Access | Fully Refereed | Peer Reviewed International Journal

ISSN: 2319-7064

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A Case Report of Mucopolysaccharidoses Type 4 (Morquio Syndrome)

K. Lakshmisindhu, B. Anjaiah

Abstract: Mucopolysaccharidosis are group of autosomal recessive metabolic disorders caused by a deficiency of the lysosomal enzymes needed to degrade glycosaminoglycans (GAGs) like heparin sulfate, dermatan sulfate and keratin sulfate.Incidence: 3.5-4.5 in 100, 000 births. Here we report a case of 7 year old female child born to a 3rd degree consanguinous couple presented with symptoms suggestive of cardiac failure and delayed milestones. On examination child had coarse facial features, megalocornea, short stature, joint stiffness, kyphoscoliosis, absent vaginal orifice.X ray features: rotational instability of atlantoaxial joint, scoliosis of dorsolumbar spine, anterior beaking of vertebral bodies, bullet shaped metacarpals and cardiomegaly.2D Echo shows mitral valve prolapse and severe Mitral Regurgitation.Usg Abdomen-normal.Urinary glycosaminoglycans reports are positive.Enzymatic analysis revealed low levels of glucose 6 phosphatase.Child is on treatment with digoxin, enalapril and furosemide.Haemotopoeitic stem cell transplantation and enzyme replacement therapy are other treatment options.Reconstructive vaginoplasty was advised

Keywords: mucopolysaccharidoses, Dysostosis multiplex, Enzyme therapy