Comisi F F, Soddu C, Corpino M, Marica M, Cacace R, Foiadelli T, Savasta S
Pediatric Clinic and Rare Diseases, Microcitemico Hospital "A. Cao", University of Cagliari, Cagliari, Italy.
Pediatric Clinic and Rare Diseases, Microcitemico Hospital "A. Cao", Cagliari, Italy.
Front Pediatr. 2024 Dec 17;12:1460658. doi: 10.3389/fped.2024.1460658. eCollection 2024.
Alpha-thalassemia X-linked intellectual disability (ATR-X) syndrome, is a rare genetic disorder, caused by mutations in the ATRX gene. Clinical manifestations include typical facial dysmorphisms, mild-to-severe intellectual disability, hypotonia, genital anomalies, significant gastrointestinal (GI) complications, such as abdominal distension, chronic constipation, feeding difficulties, gastroesophageal reflux, and mild-to-moderate anemia secondary to alpha-thalassemia.
We report a patient with ATR-X syndrome suffering from gastrointestinal dysmotility and highlight the beneficial effects of pyridostigmine. Knowledge about the role and appropriate dosage of pyridostigmine in GI motility disorders is limited. To date, only nine pediatric cases involving pyridostigmine for GI dysmotility have been reported.
Considering current understanding about the treatment of gastrointestinal complications in patients with genetic syndromes, this case provides new insights into management of these complex clinical presentations.
X连锁α地中海贫血智力障碍（ATR-X）综合征是一种罕见的遗传性疾病，由ATRX基因突变引起。临床表现包括典型的面部畸形、轻至重度智力障碍、肌张力减退、生殖器异常、严重的胃肠道（GI）并发症，如腹胀、慢性便秘、喂养困难、胃食管反流，以及继发于α地中海贫血的轻至中度贫血。
我们报告1例患有胃肠道动力障碍的ATR-X综合征患者，并强调吡啶斯的明的有益作用。关于吡啶斯的明在胃肠动力障碍中的作用和合适剂量的知识有限。迄今为止，仅报道了9例使用吡啶斯的明治疗胃肠动力障碍的儿科病例。
考虑到目前对遗传综合征患者胃肠道并发症治疗的认识，该病例为这些复杂临床表现的管理提供了新的见解。
