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12 - Mucopolysaccharidosis type 4 (Morquio syndrome): a case report
Kamil Sahin, Murat Elevli, Tarkan Kalkan
Objective: Mucopolysaccharidoses, develop with genetic transmission which cause destructive changes in various organs as a result of glycasoaminoglycans deposition in lysosomes. Herein, we are presenting a case with Morquio syndrome so as to attract attention to this rarely seen disease.
Case: A 11-year-old male patient presented to our hospital with complaints of short stature, and bone deformities. The parents were not relatives, and he had 3 healthy younger siblings. On physical examination, coarse facial features, hypertelorism, disproportionate short stature, genu valgum, pectus carinatum, kyphoscoliosis, were detected. He demonstrated a waddling gait. His neuromotor development was normal for his age. On bone radiograms, kyphoscoliosis, flared iliac wings, coxa valga, flattening of femoral epiphysis, widened ribs, and narrowed iliac wings were detected. Urine tests were positive for glycosaminoglycans (keratan sulphate). Enzymatic analysis revealed low levels of glucose-6-phosphatase [15 pmol/mg/hr, (n:400-2000)], which made the final diagnosis.
Conclusions: Morquio syndrome has Aand B types with similar clinical manifestations which are transmitted as an autosomal recessive trait. Tip 4A is a disease due to a deficiency of galactosamine-6-sulfatase (GALNS) enzyme, which is encoded by the 16q24.3 gene, while Type 4B is characterized by deficiency of beta galactosidase. In both types of the disease, keratan sulphate, and chondrotin 6 sulphate accumulate. Also in our case manifestations became more prominent around age 1, and gradually progressed. Our patient without mental problems had typical skeletal signs on radiograms which is named dysostosis multiplex.
It is necessary to initiate enzyme replacement therapybefore the onset of gait disorders.
Keywords: Enzyme therapy, Morquio syndrome, mucopolysaccharidosis
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