種々の合併症を伴える大理石病の一例

抄録

A boy of five years was admitted to our clinic for the pain in his bilateral hips and thighs. He had a fracture of the right humerus, and ostemyelitis of the left mandibula in his history. A hydrocephalus and nystagmus appeared in the second year of life.
There was apparent mental slowness and optic atrophy. The serum calcium level was within normal limit, but alkaline and acid phosphatase ranged in high levels. Hematologic examination provided no evidende of anemia.
There was greatly increased uniform density of all the bones, typical of osteopetrosis. The base of skull was greatly thickened and dense. The vertebrae showed “thick sandwich” appearance. The long bones of the upper arm and thigh had abnormally thick shaft, and greatest increase in density was found in the upper third and lower half of the femora and upper half of the humeri. In these regions, apparent transverse striations were seen. On the other hand, longitudinal striations were seen in the middle third of the femora and the upper half of the forearm bones.
Upper parts of the femora were greatly deformed. The neck were dense and widen, apparent coxa vara was seen. At the border between the necks and the shafts, there appeared opaque zones, suspected as the fractures by unusual stress.