Gallbladder Hypoplasia With Intestinal Malrotation in a Patient With Apert Syndrome: A Case Report.

Gallbladder agenesis and hypoplasia are rare diseases that are often asymptomatic but can present as biliary colic in the 5th or 6th decade of life. The incidence of gallbladder agenesis and hypoplasia has not been well documented in the pediatric population, and concomitant congenital anomalies can result in a complex clinical presentation. This is a case report of a 20-year-old male with Apert disease with a 6-month history of chronic right upper quadrant (RUQ) pain with imaging that demonstrated both gallbladder hypoplasia and malrotation without volvulus. He underwent both a cholecystectomy and a Ladd's procedure upon intraoperative identification of a hypoplastic gallbladder and had complete resolution of pain. The etiology of this patient's abdominal pain cannot be conclusively identified due to the multiple procedures performed, but prior studies indicate that it may be more attributed to the gallbladder hypoplasia. This case highlights the difficulty of both gallbladder hypoplasia diagnosis and its surgical management. Gallbladder hypoplasia is exceedingly rare, and a high clinical suspicion is needed to diagnose its presence in patients with genetic predispositions for biliary disease. While there is no gold standard for its management, initial recommendations are to proceed with conservative treatment with antispasmodics before operative intervention. In the case of operative intervention, surgeons must understand the high risks of operating in these patients due to the degree of fibrosis.