Kammoun Fatma, Tanguy Alain, Boesplug-Tanguy Odile, Bensahel Henri, Khouri Nejib, Landrieu Pierre
Service de Neurologie Pédiatrique, CHU Paris sud-Bicêtre, 94275 Paris Cedex, France.
Am J Med Genet A. 2004 Apr 15;126A(2):191-6. doi: 10.1002/ajmg.a.20562.
Club foot is a common congenital deformity, for which a neurogenic process in utero has been proposed in some severe forms, but in most cases its cause remain uncertain. We report on four patients with an unilateral (three cases) or bilateral (one case) clubfoot and a bilateral perisylvian cortical dysplasia. All had severe dysarthria with mild mental retardation, epilepsy occurred in three cases. Direct evidence of fetal lesions of the spinal cord was occasionally present, such as signs of motor axonopathy in two cases analyzed by electrophysiological methods and syringomyelic cavitation at the thoracic level in one case. Even though the sensitivity of the investigations to demonstrate microcopic scars in the spinal cord remains weak, the presence of polymicrogyric rearrangements in the perisylvian cortex, known to proceed from a transient ischemic process occurring in the carotid territory during mid-gestation, strongly suggests that a similar mechanism occurred in the spinal cord. In fact, the foot deformity cannot be viewed as the consequence of lesions to brain regions that do not control the foot motility in the fetus. Extraneurological lesions such as jejunal atresia, possibly proceeding from localized vascular compromise, were also encountered. In one sibship, one sister was found to have a severe developmental anomaly of one foot, suggesting that genetic factors may be involved.
马蹄内翻足是一种常见的先天性畸形，对于某些严重形式，有人提出子宫内存在神经源性过程，但在大多数情况下其病因仍不确定。我们报告了4例患有单侧（3例）或双侧（1例）马蹄内翻足以及双侧外侧裂周围皮质发育异常的患者。所有患者均有严重构音障碍及轻度智力发育迟缓，3例发生癫痫。偶尔会出现脊髓胎儿期病变的直接证据，如2例经电生理方法分析显示有运动轴索性神经病的体征，1例在胸段有脊髓空洞症。尽管用于显示脊髓微观瘢痕的检查敏感性仍然较低，但外侧裂周围皮质存在多小脑回重排，已知这是由于妊娠中期颈动脉区域发生短暂缺血过程所致，这强烈提示脊髓也发生了类似机制。事实上，足部畸形不能被视为胎儿期不控制足部运动的脑区病变的结果。还发现了一些非神经学病变，如空肠闭锁，可能由局部血管受损引起。在一个家族中，一名姐妹被发现一只脚有严重发育异常，提示可能涉及遗传因素。
