Aquino Alessandro, Perini Mattia, Cosmai Silvia, Zanon Silvia, Pisa Viviana, Castagna Carmine, Uberti Stefano
Research Department, Istituto Superiore di Osteopatia, 20126 Milan, Italy; Department of Clinical Paediatrics & Obstetrics-Gynaecology, Istituto Superiore di Osteopatia, 20126 Milan, Italy.
Department of Clinical Paediatrics & Obstetrics-Gynaecology, Istituto Superiore di Osteopatia, 20126 Milan, Italy.
Case Rep Pediatr. 2017;2017:5437830. doi: 10.1155/2017/5437830. Epub 2017 Jan 31.
Pitt-Hopkins Syndrome (PTHS) is a rare genetic disorder caused by insufficient expression of the gene. Children with PTHS typically present with gastrointestinal disorders and early severe chronic constipation is frequently found (75%). Here we describe the case of a PTHS male 10-year-old patient with chronic constipation in whom Osteopathic Manipulative Treatment (OMT) resulted in improved bowel functions, as assessed by the diary, the QPGS-Form A Section C questionnaire, and the Paediatric Bristol Stool Form Scale. The authors suggested that OMT may be a valid tool to improve the defecation frequency and reduce enema administration in PTHS patients.
皮特-霍普金斯综合征(PTHS)是一种由该基因表达不足引起的罕见遗传疾病。患有PTHS的儿童通常会出现胃肠道疾病,且经常发现早期严重慢性便秘(75%)。在此,我们描述了一名患有慢性便秘的10岁PTHS男性患者的病例,通过日记、QPGS-A表C部分问卷和儿科布里斯托大便形状量表评估,整骨手法治疗(OMT)使该患者的肠道功能得到改善。作者认为,OMT可能是改善PTHS患者排便频率和减少灌肠给药的有效工具。