2025, Vol. 7, Issue 2, Part E
Intestinal malrotation in an adult with Sakati-Nyhan-Tisdale syndrome: A case report
Author(s): Jacqueline Grubel BS, Shelly Barker MD and Elena Wilson BS
Abstract: Intestinal malrotation results from failure of embryological counter clockwise rotation of the small bowel about the superior mesenteric artery, resulting in abnormal anatomic positioning and fixation of the bowel within the abdomen. Intestinal malrotation is rare (0.5-1% of total population) and is usually diagnosed within the first month of life with recurrent volvulus. The Ladd’s procedure is the standard of care surgical intervention for intestinal malrotation to improve anatomic positioning of the bowel and reduce the risk of future volvulus. Sakati-Nyhan-Tisdale Syndrome refers to a distinct syndrome of malformations, including craniofacial defects, limb abnormalities, and congenital heart defects. There is no direct evidence to suggest a common association between congenital intestinal malrotation and Sakati-Nyhan-Tisdale syndrome.
We report the case of a 35-year-old female with a history of Sakati-Nyhan-Tisdale Syndrome and intestinal malrotation, presenting with recurrent postprandial epigastric and right upper quadrant pain. Imaging confirmed congenital malrotation without obstruction. She underwent a laparoscopic Ladd’s procedure, which was converted to open laparotomy due to limited space and complex adhesions. Intra-operative findings confirmed malrotation and revealed midgut volvulus. The patient had an uneventful postoperative recovery and was discharged home after four days.
Congenital intestinal malrotation predominantly pediatric disease. In adults, its rarity and chronic, nonspecific gastrointestinal symptomology frequently leads to delayed diagnosis and increases risk for severe complications like volvulus if not identified. Its embryological origin involves abnormal rotation and fixation of the intestines during fetal development, and it is frequently associated with other congenital anomalies.
Increased clinical suspicion of congenital intestinal malrotation and early imaging are crucial for timely diagnosis and intervention in adults, preventing serious complications. Recognizing its possible association with rare syndromes may further enhance patient evaluation and care. Despite being extremely rare, future patients diagnosed with Sakati-Nyhan-Tisdale syndrome may benefit from additional workup of intestinal malrotation.
DOI: 10.22271/27081494.2025.v7.i2e.233Pages: 303-306 | Views: 204 | Downloads: 95Download Full Article: Click Here
How to cite this article:
Jacqueline Grubel BS, Shelly Barker MD, Elena Wilson BS.
Intestinal malrotation in an adult with Sakati-Nyhan-Tisdale syndrome: A case report. Int J Case Rep Surg 2025;7(2):303-306. DOI:
10.22271/27081494.2025.v7.i2e.233
