# Navigating the Twist: An Atypical Presentation of Malrotation

**Authors:** Shivangi Ganeshan, Kimberley R. Zakka, Arash R. Zandieh, Manuel B. Torres, Lewis P. Rubin

PMC · DOI: 10.1055/a-2803-3478 · AJP Reports · 2026-03-05

## TL;DR

A neonate presented with bloody stools due to intestinal malrotation, highlighting the importance of early diagnosis to prevent severe complications.

## Contribution

This case report highlights an atypical presentation of malrotation with hematochezia rather than typical symptoms like bilious vomiting.

## Key findings

- A healthy term neonate presented with GI bleeding due to malrotation, confirmed by imaging.
- The case emphasizes the need to consider malrotation in neonates with hematochezia.
- The patient underwent successful surgical correction without evidence of volvulus or bowel ischemia.

## Abstract

Intestinal malrotation is a congenital anomaly resulting from abnormal midgut rotation and fixation and occurs in approximately 1 in 500 live births. Malrotation results in a narrow mesenteric root, predisposing to midgut volvulus and potentially life-threatening bowel ischemia. Symptoms develop in about 1 in 6,000 individuals, over 75% of cases presenting in the early neonatal period. Bilious vomiting and abdominal distension are common signs of presentation.

We report a case of a healthy term male neonate who was breastfeeding with formula supplementation until day of life 3, when he passed two bloody stools. He was transferred to our neonatal intensive care unit for evaluation and management. Abdominal ultrasound demonstrated pathognomonic reversal of the relationship between the superior mesenteric artery and superior mesenteric vein and an upper gastrointestinal (GI) contrast study confirmed intestinal malrotation. He underwent an urgent exploratory laparotomy and corrective Ladd procedure. There was no intraoperative evidence of volvulus or bowel ischemia. He had an uncomplicated recovery and was discharged several days later.

GI bleeding is a rare initial presentation of malrotation, particularly in the absence of bilious emesis. This case emphasizes the importance of considering malrotation in neonates with hematochezia to enable early diagnosis and prevent life-threatening complications.

## Linked entities

- **Diseases:** intestinal malrotation (MONDO:0008666)
- **Species:** Homo sapiens (taxon 9606)

## Full-text entities

- **Genes:** TWIST1 (twist family bHLH transcription factor 1) [NCBI Gene 7291] {aka ACS3, BPES2, BPES3, CRS, CRS1, CSO}
- **Diseases:** enterocolitis (MESH:D004760), GI bleeding (MESH:D006471), sepsis (MESH:D018805), small bowel atresia (MESH:C538260), Bilious emesis (MESH:D014839), bowel ischemia (MESH:D007511), genetic disorder (MESH:D030342), duodenal webs (MESH:D004382), necrosis (MESH:D009336), hypernatremia (MESH:D006955), anal fissures (MESH:D005401), bowel rotation (MESH:D009759), atresia (MESH:D018633), intestinal obstruction (MESH:D007415), perforation (MESH:D057112), vascular malformations (MESH:D054079), venous congestion (MESH:D006940), cardiac defects (MESH:D006331), weight gain (MESH:D015430), abdominal distension (MESH:D000007), bleeding (MESH:D006470), obesity (MESH:D009765), Intestinal malrotation (MESH:C562456), Hirschsprung's disease (MESH:D006627), volvulus (MESH:D045822), erosions (MESH:D014077), rectal bleeding (MESH:D012002), vascular (MESH:D057772), abdominal pain (MESH:D015746), weight loss (MESH:D015431), anorectal malformations (MESH:D000071056), prediabetes (MESH:D011236), ulcers (MESH:D014456), Waugh's syndrome (MESH:D005359), coagulopathies (MESH:D001778), trisomy 21 (MESH:D004314), GI (MESH:D005767), milk protein allergy (MESH:D016269), hypertension (MESH:D006973), intussusception (MESH:D007443), death (MESH:D003643), bowel necrosis (MESH:D012778), gastroesophageal reflux (MESH:D005764), shock (MESH:D012769), congenital anomalies (MESH:D000013), hematoma (MESH:D006406)
- **Chemicals:** Chloride (MESH:D002712), cefazolin (MESH:D002437), Sodium (MESH:D012964), azithromycin (MESH:D017963)
- **Species:** Homo sapiens (human, species) [taxon 9606]

## Full text

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## Figures

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## References

28 references — full list in the complete paper: https://tomesphere.com/paper/PMC12962794/full.md

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Source: https://tomesphere.com/paper/PMC12962794