A Case Report of Mucopolysaccharidoses Type 4 (Morquio Syndrome)

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