Pazzaglia U E, Beluffi G, Bianchi E, Castello A, Coci A, Marchi A
Clinica Ortopedica e Traumatologica dell'Universitá di Pavia, Italy.
Eur J Pediatr. 1989 Apr;148(6):553-7. doi: 10.1007/BF00441557.
Histological examination of the bones obtained on autopsy of a 5-month-old child with mucolipidosis II (I-cell disease) revealed inhibition of the growth plate calcification with defective vascular invasion and signs of hyperparathyroidism. These findings are the chondro-osseous basis of the early radiological ricket-like appearance of bones in the neonatal period or soon thereafter. Whether the early skeletal abnormalities of mucolipidosis II result from a primary enzymatic defect of cartilage and bone cells or from factors controlling bone metabolism deserves further study.
对一名患有黏脂贮积症II型（I细胞病）的5个月大儿童进行尸检时获得的骨骼进行组织学检查，结果显示生长板钙化受到抑制，血管侵入存在缺陷，并伴有甲状旁腺功能亢进的迹象。这些发现是新生儿期或此后不久骨骼早期放射学上类似佝偻病表现的软骨-骨基础。黏脂贮积症II型的早期骨骼异常是由软骨和骨细胞的原发性酶缺陷引起，还是由控制骨代谢的因素引起，值得进一步研究。
