PDF(Pubmed)
Abstract：
Pitt-Hopkins syndrome (PTHS) is a rare, neurodevelopmental genetic disorder caused by mutations in the TCF4 gene. This gene encodes a ubiquitous, class I, basic helix-loop-helix factor, which is implicated in various developmental and regulatory processes. Predominant clinical manifestations of PTHS include facial dysmorphisms, intellectual disability, absence of expressive language, epilepsy, as well as visual and musculoskeletal impairments. Gastrointestinal (GI) complications, such as chronic intestinal pseudo-obstruction, gastroparesis with delayed bowel transit, chronic constipation culminating in failure to thrive, and gastroesophageal reflux disease (GERD), are also prevalent in these patients. The early identification of pain etiology in PTHS patients poses a significant clinical challenge. This report presents two cases of PTHS patients suffering from gastrointestinal dysmotility, evaluated at our Pediatrics Clinic at the \"Microcitemico\" Hospital. A review of existing literature was conducted via the PubMed database to elucidate the current understanding of the GI phenotype in PTHS. Twenty articles were deemed most relevant and selected for this purpose. In both patients, severe constipation and abdominal distension resulted in persistent agitation and inconsolable crying. These distress symptoms were completely ameliorated following prompt pharmacological intervention.
摘要：
皮特-霍普金斯综合征（PTHS）是一种罕见的，由TCF4基因突变引起的神经发育遗传疾病。这个基因编码一个普遍存在的，I类,基本螺旋-环-螺旋因子，这牵涉到各种发展和监管过程。PTHS的主要临床表现包括面部畸形，智力残疾,缺乏表现力的语言，癫痫,以及视觉和肌肉骨骼损伤。胃肠道（GI）并发症，比如慢性假性肠梗阻,胃轻瘫伴肠道运输延迟，慢性便秘最终导致无法茁壮成长，胃食管反流病（GERD），在这些患者中也很普遍。PTHS患者疼痛病因的早期识别提出了重大的临床挑战。本报告介绍了两例患有胃肠道动力障碍的PTHS患者，在“Microcitemico”医院的儿科诊所进行评估。通过PubMed数据库对现有文献进行了综述，以阐明对PTHS中GI表型的当前理解。为此目的选择了20篇文章。在这两个病人中，严重的便秘和腹胀导致持续的躁动和无法安慰的哭泣。这些痛苦症状在及时的药物干预后得到完全改善。
