Effects of Osteopathic Manipulative Treatment in a 3-Year-Old With Pitt-Hopkins Syndrome.

Abstract

Pitt-Hopkins Syndrome (PTHS) is a rare neurodevelopmental disorder caused by a mutation in the transcription factor 4 gene resulting in defective regulation of the enteric nervous system. With no cure, current management emphasizes the treatment of the associated comorbidities to improve day-to-day quality of life. Osteopathic manipulative treatment (OMT) has been implemented in the treatment of various gastrointestinal pathologies; however, there is limited literature on its use in the management of comorbidities associated with PTHS. Here, we present a case of a three-year-old female with PTHS that greatly benefited from the use of five OMT sessions to resolve her complaints of severe constipation, abdominal pain, discomfort, and muscle spasms. As reported by the mother, the patient became less restless, had minimal abdominal pain, and was having multiple daily bowel movements with a reduction of her previous biweekly enema regimen. All while bringing attention to PTHS, this case demonstrates the efficacy of utilizing OMT to manage its gastrointestinal comorbidities in hopes of incorporating it into the standard of care.