Babcock D S, Bove K E, Hug G, Dignan P S, Soukup S, Warren N S
Pediatr Radiol. 1986;16(1):32-9. doi: 10.1007/BF02387502.
A pregnant woman whose previous child had a diagnosis of I-cell disease was referred for evaluation of the fetus. Fluid obtained by amniocentesis and maternal serum showed abnormally increased levels of lysosomal enzymes suggesting that the fetus had I-cell disease. Sonography at 18 weeks showed abnormally short femurs and intrauterine growth retardation. The pregnancy was electively terminated at 19 weeks' gestation and the diagnosis was confirmed. Radiographs of the fetus demonstrated that the bony dysplasia is present early in fetal life with diffuse decrease in bone mineralization, a coarse, lacy, trabecular pattern, overall shortening and under-modelling of the long bones, subperiosteal bone deficiency in the diaphysis giving the appearance of periosteal new bone, hypoplasia of the anterior superior aspect of the upper lumbar vertebral bodies, broad ribs, abnormal pelvis with squared iliac wings and flattened acetabular roofs, and a small irregular calcaneal ossification center. There was good correlation between the radiographic findings and the microscopic findings in the bones. We observed deficient endosteal bone formation, small epiphyses, and poorly developed intervertebral discs. We speculate that this indicates impaired production of extra-cellular matrix by several different types of specialized mesenchymal cells. Abnormalities of transport of glycoproteins other than lysosomal enzymes or excess of extracellular acid hydrolases may be involved in the pathogenesis.
一名前一个孩子被诊断患有I细胞病的孕妇前来接受胎儿评估。通过羊膜穿刺术获取的羊水和孕妇血清显示溶酶体酶水平异常升高，提示胎儿患有I细胞病。孕18周时超声检查显示股骨异常短小和宫内生长受限。妊娠于孕19周时选择性终止，诊断得到证实。胎儿的X线片显示，骨发育异常在胎儿期早期就已存在，表现为骨矿物质弥漫性减少、粗大的花边状小梁模式、长骨整体缩短和塑形不足、骨干骨膜下骨质缺乏呈现骨膜新生骨外观、上腰椎椎体前上缘发育不全、肋骨宽阔、骨盆异常（髂骨翼呈方形且髋臼顶扁平）以及跟骨小的不规则骨化中心。X线表现与骨骼的微观表现之间存在良好的相关性。我们观察到骨内膜骨形成不足、骨骺小以及椎间盘发育不良。我们推测这表明几种不同类型的特殊间充质细胞产生细胞外基质的功能受损。除溶酶体酶外的糖蛋白转运异常或细胞外酸性水解酶过量可能参与了发病机制。
