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 libms, pectus carinatum and kyposcoliosis. There were slight muscular weakness and the left inguinal hernia.
There was raiological evidence of the distturbance of osteogenesis in epiphysese 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 finding in Morquio´s disease.
However, he did not show any of the followings: hepatosplnomegaly, corneal opacity or Reilly bodies in peripheral blood and bone marrow.
There were no specific biochemical changes, but serum phosphorus and radioactive iodine(I(^131)) uptake were sllightly 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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