Pitt-Hopkins Syndrome (PTHS) is a rare genetic disorder caused by insufficient expression of the TCF4 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.
Aquino, Alessandro Perini, Mattia Cosmai, Silvia Zanon, Silvia Pisa, Viviana Castagna, Carmine Uberti, Stefano eng Case Rep Pediatr. 2017;2017:5437830. doi: 10.1155/2017/5437830. Epub 2017 Jan 31.