Article Text
PDF
Abstract
An early-adolescent boy with a background of Pitt-Hopkins syndrome was transferred to a tertiary paediatric hospital with symptoms of a functional large bowel obstruction. He required extensive surgical intervention including a transverse colectomy, drainage of an abdominal abscess, laparotomy and adhesionolysis, and insertion of a gastrostomy and jejunostomy. He had significant ongoing issues with visceral hyperalgesia that was refractory to a wide range of pharmacological treatments and required admission to the intensive care unit on multiple occasions, and consultations with international experts in Pitt-Hopkins syndrome and pain specialists. An individualised pain plan was created and adjusted over time, with eventual good effect, and he was transferred back to his regional hospital and subsequently discharged home.
- Paediatrics
- Congenital disorders
- Paediatric prescribing
- Pharmacology and therapeutics
- Gastroenterology
Footnotes
Contributors The following authors were responsible for drafting of the text, sourcing and editing of the clinical images, investigation results, drawing original diagrams and algorithms, and critical revision for important intellectual content: LR and AC. The following author gave final approval of the manuscript: AC. LR wrote and revised this paper, with the supervision, advice and guidance of AC.
Funding The authors have not declared a specific grant for this research from any funding agency in the public, commercial or not-for-profit sectors.
Case reports provide a valuable learning resource for the scientific community and can indicate areas of interest for future research. They should not be used in isolation to guide treatment choices or public health policy.
Competing interests None declared.
Provenance and peer review Not commissioned; externally peer reviewed.