Harlow C L, Partington M D, Thieme G A
Department of Radiology, University of Colorado School of Medicine, Denver 80262, USA.
Pediatr Neurosurg. 1995;23(3):140-7. doi: 10.1159/000120951.
We report 5 cases of complete, or nearly complete, agenesis of the lumbar and sacral spine. In 1 case pregnancy was terminated at 23 weeks of gestation, and the others were livebirths. The surviving 4 patients were all infants of diabetic mothers. Imperforate anus was present in 2 of 4 liveborn patients and was suspected in the abortus. All liveborn cases were paraplegic, and all exhibited the 'Buddha' deformity of the lower extremities. One patient had congenital obstructive hydrocephalus, probably representing a variant of holoprosencephaly, requiring a ventriculoperitoneal shunt. No other nervous system anomaly was identified in any patient, and the other patients are showing normal cognitive development. We propose that these patients have defects which occurred during germ cell formation (i.e., during gastrulation), with interruption of the primitive streak resulting in combined failure of primary and secondary neurulation.
我们报告了5例腰椎和骶椎完全或近乎完全发育不全的病例。其中1例在妊娠23周时终止妊娠，其他均为活产。存活的4例患者均为糖尿病母亲的婴儿。4例活产患者中有2例存在肛门闭锁，流产儿中疑似存在肛门闭锁。所有活产病例均为截瘫，且均表现出下肢的“佛像”畸形。1例患者患有先天性梗阻性脑积水，可能是全前脑畸形的一种变体，需要进行脑室腹腔分流术。在任何患者中均未发现其他神经系统异常，其他患者认知发育正常。我们认为这些患者的缺陷发生在生殖细胞形成过程中（即原肠胚形成期间），原条中断导致原发性和继发性神经管形成联合失败。
