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Case Studies | Pediatrics | India | Volume 8 Issue 8, August 2019 | Popularity: 6.3 / 10
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
Edition: Volume 8 Issue 8, August 2019
Pages: 81 - 82
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