Variant of Polysplenia Syndrome Variant of Polysplenia Syndrome with Intestinal Malrotationwith Intestinal Malrotation

Hannah Chang, Ph.D., HMS III Hannah Chang, Ph.D., HMS III

Gillian Lieberman, M.D.Gillian Lieberman, M.D.

Beth Israel Deaconess Medical CenterBeth Israel Deaconess Medical CenterHarvard Medical SchoolHarvard Medical School

March 20, 2009 March 20, 2009

Talk OutlineTalk Outline

IntroductionIntroduction: clinical case: clinical case

BackgroundBackground: gastrointestinal malrotation: gastrointestinal malrotation

Re-examinationRe-examination:: secondary radiographic secondary radiographic findingsfindings

Potential diagnosisPotential diagnosis: variant of polysplenia : variant of polysplenia syndrome with malratotionsyndrome with malratotion

Take home pointsTake home points

Our patient MF: Clinical PresentationOur 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 ScanOur patient MF: Abdominal CT Scan

PACS, BIDMC

Small bowel

Colon

PACS, BIDMC

Our patient MF: Abdominal CT FindingsOur patient MF: Abdominal CT Findings

C+ CT (coronal reconstruction)

Incomplete sweep of the 4th part of the duodenal

PACS, BIDMC

PACS, BIDMC

Our patient MF: UGI + SBFT Duodenal FindingOur patient MF: UGI + SBFT Duodenal Finding

UGI with barium and air + SBFT

UGI with barium and air + SBFT

Normal location: ileocecal junction

PACS, BIDMC

PACS, BIDMC

UGI with barium and air + SBFT

Our patient MF: UGI + SBFT Ileocecal FindingOur 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 Stage 1: Midgut Exits the AbdomenAbdomen

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 RotationStage 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 TackingStage 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 Developmental Complications of Midgut RotationRotation

• 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 BandComparison case #1: Ladd Band

Burk MS, et al. Am J Surg (2008)

Hill, M. UNSW Embryology.

http://embryology.med.unsw.edu.au/

Ladd band

Midgut volvulusUGI with barium and air + SBFT

Gamblin TC, et al. Current Surgery (2003)

Comparison case #2: Inversion of Comparison case #2: Inversion of SMA/SMVSMA/SMV

SMA (A)

SMV (B)

C+ axial CT

Matzke GM, et al. Surg Endosc (2005)

Comparison case #3: Mesenteric Rotation Comparison case #3: Mesenteric Rotation Around Narrow Pedicle (“Whirlpool Sign”)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 TreatmentOur 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 CourseOur patient MF: Clinical Course

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

PACS, BIDMC PACS, BIDMC

Our patient MF: Incidental CT Finding - Our patient MF: Incidental CT Finding -

PolyspleniaPolysplenia

Multiple splenulesC+ axial CT

C+ CT (coronal reconstruction)

PACS, BIDMC PACS,

BIDMC

PACS, BIDMC

A

B

A

B

Our patient MF: Incidental CT Finding – Our patient MF: Incidental CT Finding –

Duplicated Inferior Vena Cava (IVC)Duplicated Inferior Vena Cava (IVC)

C+ axial CT

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 Clinical Presentation of Polysplenia SyndromeSyndrome

Abdominal painAbdominal pain PolyspleniaPolysplenia Heterotaxy (stomach, liver, heart)Heterotaxy (stomach, liver, heart) Short pancreasShort pancreas Intestinal malrotationIntestinal malrotation IVC abnormalitiesIVC abnormalities Azygos/hemizygos continuationAzygos/hemizygos continuation Preduodenal portal veinPreduodenal portal vein Situs ambiguous/inversusSitus ambiguous/inversus

= Patient MFGayer G, et al. Abdom Imaging (1999)

Gayer G, et al. Abdom Imaging (1999)

Comparison case #4: Radiographic Comparison case #4: Radiographic Findings for Polysplenia SyndromeFindings for Polysplenia Syndrome

C- axial CT

Polysplenia

Dilated azygos vein

Gayer G, et al. Abdom Imaging (1999)

Comparison case #5: Heterotaxy in Comparison case #5: Heterotaxy in Polysplenia SyndromePolysplenia Syndrome

Liver

Heart

Stomach

C+ axial CT

Our patient MF: Clinical Outcome 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 PointsTake Home Points Intestinal malrotation should be considered in Intestinal malrotation should be considered in

adults with vague abdominal symptomsadults with vague abdominal symptoms

Accurate radiographic diagnosis of intestinal Accurate radiographic diagnosis of intestinal malrotation can prevent unnecessary malrotation can prevent unnecessary complications and/or surgeriescomplications and/or surgeries

Polysplenia, IVC abnormality, intestinal Polysplenia, IVC abnormality, intestinal malrotation, and cardiac abnormalities can be malrotation, and cardiac abnormalities can be syndromic in asymptomatic patients. These syndromic in asymptomatic patients. These findings may have clinical significance in the findings may have clinical significance in the future.future.

AcknowledgementsAcknowledgements

• Gillian Lieberman, M.D.

• Maria Levantakis

• Brian Callahan, M.D.

• Dan Jones, M.D.

• Robert Lim, M.D.

ReferencesReferences

1. Gayer G, Apter S, Jonas T, Amitai M, Zissin R, Sella T, Weiss P, Hertz M. “Polysplenia syndrome detected in adulthood: report of eight cases and review of the literature”. Abdom Imaging. 1999. 24(2): 178-84.

2. Zissin R, Rathaus V, Oscadchy A, Kots E, Gayer G, Shapiro-Feinberg M. “Intestinal malroataion as an incidental finding on CT in adults”. Abdom Imaging. 1999. 24(6): 550-5.

3. Matzke GM, Dozois EJ, Larson DW, Moir CR. “Surgical management of intestinal malrotation in adults: comparative results for open and laparoscopic Ladd procedures”. Surg Endosc. 2005. 19(10):1416-9.

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Continued…

ReferencesReferences6. Taylor HO, Barish M, Soybel D. “Unraveling intestinal malrotation with 3-

imensional computer tomography”. Clin Gastroenterol Hepatol. 2006. 4(8): xxix.

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8. Tsuda Y, Nishimura K, Kawakami S, Kimura I, Nakano Y, Konishi J. “Preduodenal portal vein and anomalous continuation of inferior vena cava: CT findings”. Journal of Computer Assisted Tomography. 1991. 15(4): 585-588.

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10. Hill, M. The University of North South Whales. Embryology Project. (http://embryology.med.unsw.edu.au)