Martucciello Giuseppe, Lombardi Laura, Savasta Salvatore, Gibbons Richard J
Scientific Institute (IRCCS) Policlinico San Matteo, University of Genoa, Pavia, Italy.
Am J Med Genet A. 2006 Jun 1;140(11):1172-6. doi: 10.1002/ajmg.a.31248.
X-linked alpha thalassemia mental retardation (ATR-X) syndrome is associated with profound developmental delay, facial dysmorphism, genital abnormalities, and alpha thalassemia. Patients with ATR-X syndrome frequently present with gastrointestinal problems, in particular feeding difficulties, regurgitation and vomiting, abdominal pain, distension, and chronic constipation. Parental reports of prolonged food refusal and distress in these children are common and although these episodes are suspected to be gastro-intestinal in origin they are rarely investigated. Death in early childhood from aspiration of vomitus or from pneumonia presumed to be secondary to aspiration has been recorded in a number of ATR-X cases. In this report we review the gastrointestinal phenotype of ATR-X syndrome in 128 cases. We also demonstrate that in two siblings, regurgitation was secondary to gastric pseudo-volvulus, a condition in which the stomach does not have a normal system of peritoneal ligaments and changes position with possible torsion around itself. Furthermore, ultra-short Hirschsprung disease with colonic hypoganglionosis was shown and this may contribute to the severe constipation affecting these children.
X连锁α地中海贫血智力迟缓（ATR-X）综合征与严重发育迟缓、面部畸形、生殖器异常及α地中海贫血相关。ATR-X综合征患者常出现胃肠道问题，尤其是喂养困难、反流和呕吐、腹痛、腹胀及慢性便秘。这些患儿长期拒食和痛苦的家长报告很常见，尽管这些发作被怀疑源于胃肠道，但很少进行调查。在一些ATR-X病例中记录到幼儿期因呕吐物误吸或继发于误吸的肺炎而死亡。在本报告中，我们回顾了128例ATR-X综合征的胃肠道表型。我们还证明，在两名同胞中，反流继发于胃假性肠扭转，即胃没有正常的腹膜韧带系统且位置改变并可能自身扭转。此外，显示有超短型先天性巨结肠伴结肠神经节减少，这可能是影响这些患儿严重便秘的原因。
