Carrascosa-Romero M C, Fernández-Córdoba M S, Gonzálvez-Piñera J, Gutiérrez-Junquera C, Pardal-Fernández J M
Sección de Neuropediatría, Complejo Hospitalario Universitario de Albacete, Albacete, Espana.
Rev Neurol. 2007;45(12):707-12.
Hirschsprung's disease (HD), or aganglionic megacolon, is a congenital disorder that is characterised by the absence of ganglion cells in the submucosal and myenteric plexuses of the intestine, which is caused by the failure of these cells to migrate from the neural crest (neurocristopathy). Cerebral dysgenesis and polymalformation syndromes have been reported in association with HD, thus suggesting an abnormal morphogenesis.
To study the frequency of cerebral malformations in patients with HD in our environment.
We conducted a retrospective study of 41,666 live newborn infants, over the period 1993-2003, and 17 cases of HD where identified.
The incidence of HD in the health district of the province of Albacete is 1.68 per 5,000 live newborn infants. Of the 17 patients with HD who were studied, 10 were isolated (58.8%) and seven (41.1%) were associated to other structural abnormalities and psychomotor retardation. Three of the cases in this latter group were due to chromosome pathology (trisomy 21, Down syndrome), two were caused by specific polymalformation syndromes (one Mowat-Wilson syndrome and one possible FG syndrome), one was due to a pattern of abnormalities that did not fit any known syndrome, and one had a normal phenotype and isolated cerebral dysgenesis. In all of cases the neuroimaging studies identified cerebral dysgenesis that was compatible with neuronal migration disorders.
The frequency of association of HD, either isolated or within the context of a specific malformation syndrome, with neuronal migration disorders is high (23.5%). We suggest a full genetic and neurological evaluation should be carried out in patients with HD, together with brain imaging studies in order to rule out the possibility of cerebral dysgenesis.
先天性巨结肠（HD），又称无神经节性巨结肠，是一种先天性疾病，其特征是肠道黏膜下和肌间神经丛中缺乏神经节细胞，这是由于这些细胞未能从神经嵴迁移所致（神经嵴病）。已有报道称先天性巨结肠与脑发育不全和多畸形综合征有关，因此提示存在异常形态发生。
研究我们环境中先天性巨结肠患者脑畸形的发生率。
我们对1993年至2003年期间的41666例活产新生儿进行了回顾性研究，确定了17例先天性巨结肠病例。
阿尔瓦塞特省健康区先天性巨结肠的发病率为每5000例活产新生儿中有1.68例。在研究的17例先天性巨结肠患者中，10例为孤立性（58.8%），7例（41.1%）与其他结构异常和精神运动发育迟缓有关。后一组中的3例是由染色体病变（21三体，唐氏综合征）引起的，2例是由特定的多畸形综合征（1例莫瓦特-威尔逊综合征和1例可能的FG综合征）引起的，1例是由不符合任何已知综合征的异常模式引起的，1例具有正常表型和孤立性脑发育不全。在所有病例中，神经影像学研究均发现与神经元迁移障碍相符的脑发育不全。
先天性巨结肠无论是孤立性还是在特定畸形综合征背景下与神经元迁移障碍的关联频率都很高（23.5%）。我们建议对先天性巨结肠患者进行全面的基因和神经学评估，并进行脑成像研究，以排除脑发育不全的可能性。
