Gastrointestinal malrotation and chronic intestinal pseudo‐obstruction in two pediatric patients with Baraitser‐Winter cerebrofrontofacial syndrome

Baraitser-Winter cerebrofrontofacial syndrome (BWCFF) is a rare congenital anomaly syndrome that can present with characteristics in multiple organ systems. These can include pachygyria, intellectual disability, seizures, congenital heart defects, renal malformations and gastrointestinal dysfunction. The diagnosis is established with a pathogenic variant of the ACTB or ACTG1 gene. Few studies report gastrointestinal manifestations in patients with BWCFF. A retrospective chart review was performed on two female patients, ages 4 and 16 years, with the pathogenic variant of the ACTB gene, confirming the diagnosis of BWCFF. Patient A had malrotation at 3 months requiring a Ladd's procedure. Patient B had malrotation and volvulus at 1 year necessitating multiple surgeries for obstruction. Both patients underwent gastrointestinal workups, including endoscopy and imaging, as well as motility evaluations for ongoing abdominal pain and feeding intolerance. Gastrointestinal manometry findings in both patients were consistent with the diagnosis of chronic intestinal pseudo-obstruction. Both patients remain dependent on total parenteral nutrition.