Variant of Polysplenia Syndrome with Intestinal Malrotation Hannah Chang, Ph.D., HMS III Gillian Lieberman, M.D. Beth Israel Deaconess Medical Center Harvard Medical School March 20, 2009

Talk Outline Introduction: clinical case Introduction: clinical case Background: gastrointestinal malrotation Background: gastrointestinal malrotation Re-examination: secondary radiographic findings Re-examination: secondary radiographic findings Potential diagnosis: variant of polysplenia syndrome with malratotion Potential diagnosis: variant of polysplenia syndrome with malratotion Take home points Take home points

Our patient MF: Clinical Presentation MF is a 28-year-old woman with several month history of vague intermittent abdominal pain, with nausea and bloating. Her symptoms were not associated with food intake. She has had normal bowel movements and it otherwise healthy. After multiple trips to her primary care physician without resolution of symptoms, she presented to our hospital for rule out of appendicitis. As part of her workup, an Abdominal/Pelvic CT scan, and an Upper GI study with barium and small bowel follow- through (UGI with SBFT) were obtained.

Our patient MF had an Abdominal/Pelvic CT scan and an Upper GI (UGI) study with barium and small bowel follow-through (SBFT) as part of her workup.

Our patient MF: Abdominal CT Scan PACS, BIDMC

Small bowel Colon PACS, BIDMC Our patient MF: Abdominal CT Findings C+ CT (coronal reconstruction)

Incomplete sweep of the 4 th part of the duodenal PACS, BIDMC Our patient MF: UGI + SBFT Duodenal Finding UGI with barium and air + SBFT

Normal location: ileocecal junction PACS, BIDMC UGI with barium and air + SBFT Our patient MF: UGI + SBFT Ileocecal Finding UGI with barium and air + SBFT

Let’s spend a moment to review the process of embyronic midgut rotation.

Stage 1: Midgut Exits the Abdomen Moore KL & Dalley AF (1999) At 6 weeks gestation, the midgut loop is forced to exit the abdominal cavity due to the large size of the incipient liver and kidneys. Around 10 weeks, the midgut begins to return. But first, a series of rotations around the superior mesenteric artery takes place.

Stage 2: Counterclock-wise Midgut Rotation Moore KL & Dalley AF (1999) With the superior mesenteric artery (SMA) as an axis, the cranial and caudal limbs of the midgut loop rotate counterclock-wise while returning to the abdominal cavity at the same time.

Stage 3: Cecal Descent and Colonic Tacking Moore KL & Dalley AF (1999) After a total of 270 degrees of counterclock-rotation, the duodenum, small bowels, and descending colons are in place. Next, the cecum descends, bringing with it the ascending colon. Finally, the mesentary of the ascending and descending colons fuse with the peritoneum of the abdominal walls.

Any part of the process of midgut rotation can go awry. What are the most common developmental complications?

Developmental Complications of Midgut Rotation Omphalocele : failure of midgut to return to the abdominal cavity. 1:5000 live births. Rotational abnormalities : most commonly, non- rotation, or arrest of cecal descent and colonic tacking. 1:500 by some estimates. Midgut volvulus : compromise of vascular supply from volvulus around narrow mesenteric pedicle. Surgical emergency. 1:5000 live births.

Let’s now look at some comparison cases for classic radiographic findings for intestinal malrotation.

Comparison case #1: Ladd Band Burk MS, et al. Am J Surg (2008) Hill, M. UNSW Embryology. med.unsw.edu.au/ Ladd band Midgut volvulus UGI with barium and air + SBFT

Gamblin TC, et al. Current Surgery (2003) Comparison case #2: Inversion of SMA/SMV SMA (A) SMV (B) C+ axial CT

Matzke GM, et al. Surg Endosc (2005) Comparison case #3: Mesenteric Rotation Around Narrow Pedicle (“Whirlpool Sign”) C+ axial CT

Let’s now return to our patient MF. Her abdominal findings suggested it was not a “classic malrotation” with RUQ cecum and Ladd band. In fact, her right-sided colon and left-sided small bowels were exactly opposite to that expected for malrotation from Stage 3 arrest. To make a final diagnosis and possibly provide treatment, she was taken to the OR for laparoscopic exploration of her abdomen.

PACS, BIDMC Our patient MF: Surgical Treatment C+ CT (coronal reconstruction) Appendectomy Removal of band between ascending / descending colon

Patient MF tolerated the surgery well and had minimal bleeding intra-operatively. She had a smooth post-operative course and was discharged 1 day after surgery. Our patient MF: Clinical Course

Let’s now return to MF’s abdominal CT findings and point out some interesting incidental findings.

PACS, BIDMC Our patient MF: Incidental CT Finding - Polysplenia Multiple splenules C+ axial CT C+ CT (coronal reconstruction)

PACS, BIDMC A B A B Our patient MF: Incidental CT Finding – Duplicated Inferior Vena Cava (IVC) C+ axial CT C+ CT (coronal reconstruction)

Let’s discuss one possible unifying diagnosis to explain all of patient MF’s radiographic findings.

Clinical Presentation of Polysplenia Syndrome Abdominal pain Abdominal pain Polysplenia Polysplenia Heterotaxy (stomach, liver, heart) Heterotaxy (stomach, liver, heart) Short pancreas Short pancreas Intestinal malrotation Intestinal malrotation IVC abnormalities IVC abnormalities Azygos/hemizygos continuation Azygos/hemizygos continuation Preduodenal portal vein Preduodenal portal vein Situs ambiguous/inversus Situs ambiguous/inversus = Patient MF Gayer G, et al. Abdom Imaging (1999)

Comparison case #4: Radiographic Findings for Polysplenia Syndrome C- axial CT Polysplenia Dilated azygos vein

Gayer G, et al. Abdom Imaging (1999) Comparison case #5: Heterotaxy in Polysplenia Syndrome Liver Heart Stomach C+ axial CT

Our patient MF: Clinical Outcome Since discharge, patient MF has presented to our hospital two more times for vague abdominal pain. Urinary tract infection and gynecologic etiologies were ruled out. It remains to be proven whether her unusual abdominal anatomy may be causing reversible, transient mesenteric vascular compromise, which in turn, leads to her abdominal pain.

Finally, let’s discuss a few take-home points gained from our patient MF.

Take Home Points Intestinal malrotation should be considered in adults with vague abdominal symptoms Intestinal malrotation should be considered in adults with vague abdominal symptoms Accurate radiographic diagnosis of intestinal malrotation can prevent unnecessary complications and/or surgeries Accurate radiographic diagnosis of intestinal malrotation can prevent unnecessary complications and/or surgeries Polysplenia, IVC abnormality, intestinal malrotation, and cardiac abnormalities can be syndromic in asymptomatic patients. These findings may have clinical significance in the future. Polysplenia, IVC abnormality, intestinal malrotation, and cardiac abnormalities can be syndromic in asymptomatic patients. These findings may have clinical significance in the future.

Acknowledgements Gillian Lieberman, M.D. Maria Levantakis Brian Callahan, M.D. Dan Jones, M.D. Robert Lim, M.D.

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