Nakanishi I, Masuda S, Katsuda S, Kihara J, Ihara M, Yamazaki C
Acta Pathol Jpn. 1980 Jul;30(4):621-9. doi: 10.1111/j.1440-1827.1980.tb01357.x.
Two siblings with hypophosphatasia, one of whom was autopsied, were reported. The first case which was a product of a 26-year-old mother complicated by hydroamnios represented poor mineralization of the entire bones on X-ray examination and died shortly after birth. The second case weighing 1850 g delivered from the same mother had a rhizomelic micromelia and poor visualization of the skull, long bones and vertebral bones on X-ray at postmortem. The autopsy on the second case showed small thoracic cage with rachitic rosaries of ribs, membranous skull and poorly ossified vertebral and long bones. Microscopically, there was a marked disturbance of both enchondral and membranous ossifications similar to the histology of rachitis. A biochemical examination showed low alkaline phosphatase, high calcium and normal PTH in the serum. Further examination of their family revealed relatively low level of alkaline phosphatase of the parents and one of their brothers which suggsted they were carriers of hypophosphastasia. Previous reports on hypophosphatasia were reviewed and differential diagnosis of hypophosphatasia from the other congenital dwarfisms was discussed.
报告了两名患有低磷酸酯酶症的兄弟姐妹，其中一人接受了尸检。第一例是一名26岁母亲的产儿，并发羊水过多，X线检查显示全身骨骼矿化不良，出生后不久死亡。第二例由同一母亲分娩，体重1850克，有短肢型短肢畸形，死后X线检查显示颅骨、长骨和椎骨显影不佳。对第二例进行的尸检显示胸廓小，有佝偻病性串珠肋、膜性颅骨以及椎骨和长骨骨化不良。显微镜下，软骨内成骨和膜内成骨均有明显紊乱，类似于佝偻病的组织学表现。生化检查显示血清碱性磷酸酶水平低、钙水平高、甲状旁腺激素水平正常。对其家族的进一步检查发现，父母及其一个兄弟的碱性磷酸酶水平相对较低，提示他们是低磷酸酯酶症的携带者。回顾了以往关于低磷酸酯酶症的报告，并讨论了低磷酸酯酶症与其他先天性侏儒症的鉴别诊断。
