A Case Report of Morquio’s Disease |
J.J. Cho1, S.T. Kim1, D.K. Kim1, D.S. Kim1, I.S. No2 |
1Depart, of Pediatrics,College of Medicine,Pusan National University 2The Save The Children Fund Clinic in Pusan Korea |
Morquio 民病의 1 例 |
趙璋濟1, 金晟澤1, 金東權1, 金大成1, 盧仁淑2 |
1整山大學校 醫科大學 小兒科學敎室 2英聯兒邦童救護財團 診擔所 |
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Abstract |
A case of Morquio’s disease in a child aged eighteen months is reported. He showed normal intelligence, but stunted growth with short trunk and proportionately long limbs, pectus carinatum and kyposcoliosis. There were slight muscular weakness and the left inguinal hernia. There was radiological evidence of the disturbance of osteogenesis in epiphyses and diaphyses, especially vertebra plana, central tongue, flaring of metaphyses, shallowing and widening of the acetabular cavity, irregular and delayed appearance of ossification centers, osteoporosis and kyposcoliosis, all common findings in Morquio’s disease. However, he did not show any of the followings; hepatosplenomegaly, corneal opacity or Reilly bodies in peripheral blood and bone marrow.
There were no specific biochemical :changes, but serum phosphorus and radioactive iodine (I131) uptake were slightly increased and serum calcium was decreased. There was no history of consanguinity, and no other members of the family were afflicted with this disease. A brief review of relevant literatures is also included.
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