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| CASE REPORT |
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| Year : 2022 | Volume
: 24
| Issue : 2 | Page : 204-207 |
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Heterotaxy: Rare case of isolated duodenojejunal junction malposition
Ranjit Singh Lahel
Department of Radiodiagnosis, Military Hospital, Saugor, Madhya Pradesh, India
| Date of Submission | 24-Dec-2021 |
| Date of Decision | 25-Dec-2021 |
| Date of Acceptance | 16-Feb-2022 |
| Date of Web Publication | 10-Aug-2022 |
Correspondence Address:
Lt Col (Dr) Ranjit Singh Lahel
Department of Radiodiagnosis, Military Hospital, Saugor Cantt, Saugor - 470 001, Madhya Pradesh
India
 Source of Support: None, Conflict of Interest: None  | Check |
DOI: 10.4103/jmms.jmms_161_21
Heterotaxy syndrome is an uncommon disease, with an incidence ranging from 1 in 6000 to 1 in 20,000 live births.[1] This syndrome is characterized by major cardiac vascular malformations, congenital asplenia, polysplenia, and abnormal arrangement of the chest and abdominal organs. Radiological investigations such as radiographs, sonography, and computed tomography scan play a pivotal role in ascertaining the correlation between clinical symptoms of the patient and the extent of anatomical aberration in the form of thoracic or visceral “situs” abnormalities. The case in this report is a rare variant of heterotaxy, which cannot be stratified into any of the existing subsets for heterotaxy syndromes. The relevant investigations thereof and their relevant findings have been discussed in detail.
Keywords: Duodenojejunal junction, heterotaxy, situs ambiguous, situs inversus totalis,
How to cite this article:
Lahel RS. Heterotaxy: Rare case of isolated duodenojejunal junction malposition. J Mar Med Soc 2022;24:204-7 |
| Introduction | |  |
Heterotaxy syndrome is an uncommon disease, with an incidence ranging from 1 in 6000 to 1 in 20,000 live births. The Nomenclature Working Group offers the following definition for the term “heterotaxy”: “heterotaxy” is defined as an abnormality where the internal thoracoabdominal organs demonstrate abnormal arrangement across the left‒right axis of the body.”[2] This syndrome is characterized by major cardiac vascular malformations, congenital asplenia, polysplenia, and abnormal arrangement of the chest and abdominal organs. The overall prognosis of children with situs ambiguous results in fatally poor prognosis in their early age, which results from the degree of congenital heart diseases.[3] However, the case reported here is a rare variant of heterotaxy, which does not fit into any of the existing classifications for heterotaxy syndromes. This patient was healthy and alive at the age of 62, unaware of her “situs” status and with no related complications. She was diagnosed during workup with pain abdomen in the hospital.
| Case Report | | |
A 62-year-old elderly female was reported to the hospital surgical department with chief complaints of right-sided upper quadrant pain and recurrent vomiting for duration of 3 days. After initial clinical examination and evaluation by surgeon, the patient was referred for laboratory and radiological investigations with a clinical suspicion of acute cholecystitis.
Laboratory data revealed hemoglobin 12.2 gm/dl, hematocrit 34%, Mean corpuscular volume (MCV): 88 fl, white blood cell 10400/uL, S. bilirubin: 0.51 mg/dl, SGPT: 22 U/L, SGOT: 23 U/L, total protein: 7.49 g/dl, albumin: 4.2 g/dl, fasting blood sugar: 115 mg/dl, BUN 7 mg/dL, and creatinine 0.8 mg/dL.
Frontal chest radiograph of the patient revealed right-sided position of the cardiac apex. Ultrasonography was done and revealed malposition of abdominal organs, with liver, gall bladder on the left, and spleen on the right. There was overdistension of the stomach. Contrast-enhanced computed tomography scan of the chest abdomen pelvis was done. It revealed dextrocardia, complete mirror placement (as compared to normal situs) of the liver, gall bladder, and head of pancreas on the left side, and spleen and tail of pancreas on the right side. The stomach was on the right and was overdistended. The D1-segment and rest of duodenum were seen positioned on the left side. The ascending colon, ileocecal junction were on the left and descending colon on the right [Figure 1], [Figure 2], [Figure 3], [Figure 4], [Figure 5], [Figure 6], [Figure 7]. | Figure 1: Frontal radiograph chest showing dextrocardia (red arrow) and gastric bubble (black arrow) on the right
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 | Figure 2: Frontal radiograph erect abdomen, showing distended stomach on the right (red arrow)
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 | Figure 3: Ultrasound image from the left upper quadrant showing left-sided liver (red arrow) and gall bladder (yellow arrow)
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 | Figure 4: Axial contrast-enhanced computed tomography section showing dextrocardia (red arrow) at the level of thorax with right-sided aorta (yellow arrow)
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 | Figure 5: Axial contrast-enhanced computed tomography section at the level of upper abdomen showing liver on left (red arrow), stomach (green arrow), and spleen (yellow arrow) on right
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 | Figure 6: Axial section contrast-enhanced computed tomography showing reversal of superior mesenteric artery on the right (red arrow), superior mesenteric vein on the left (yellow arrow) relationship
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 | Figure 7: Duodenojejunal junction (red arrow) anterior to aorta with jejunum curving back to the left
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The only aberration from complete situs inversus or situs inversus totalis was the position of the duodenojejunal (DJ) junction, which did not cross the midline to the right. Instead, the jejunum curved backward from the DJ junction to remain on the left of the midline.
The patient was advised upper gastrointestinal endoscopy (UGIE) to ascertain the cause of over-distended stomach. UGIE revealed a large duodenal ulcer in D1-segment with significant adjacent edema reaching up to the pylorus and causing gastric outlet obstruction. Biopsy from the sample was taken and sent for histopathological analysis. It revealed positive status for Helicobacter pylori and inflammatory changes. The patient was started on anti-H. pylori regimen and followed up on a regular basis with improvement in the clinical condition.
| Discussion | | |
The term “situs” refers to the position of the heart and viscera relative to midline. Situs solitus represents the normal position of the heart and abdominal viscera, with the cardiac apex, spleen, stomach, and aorta located on the left and the liver, inferior vena cava (IVC) located on the right.
Situs inversus indicates mirror-image location of the viscera relative to situs solitus. The systemic atrium is on the left with a left-sided trilobed lung, gall bladder, and IVC. The pulmonary atrium is on the right with a right-sided bilobed lung, single spleen, stomach, and aorta.[4] Situs inversus is present in 0.01% of the population.[5] There are two major subcategories of situs inversus: situs inversus with dextrocardia and situs inversus with levocardia. Situs inversus totalis tends to be autosomal recessive, but it can also be autosomal dominant or X-linked.[6]
Situs ambiguous, or heterotaxia, is defined as the abnormal arrangement of the organs and vessels as opposed to the orderly arrangement typical of situs solitus and situs inversus.[7] There are two subtypes for heterotaxy syndrome: polysplenia with bilateral left-sidedness and asplenia with bilateral right-sidedness, which are also called left isomerism and right isomerism, respectively.[1] There are no specific risk factors identified, and it is assumed that the underlying etiology of these abnormalities is a primary defect in lateralization around day 28 of gestation, which leads to a deviation from the normal position of viscera. Such arrangements are thought to be multifactorial in their inheritance pattern, and the coincidence of aneuploidy or other chromosomal abnormalities is very low.[8]
In a study of 19 adults with situs abnormalities, eight patients having situs ambiguous with polysplenia and one patient with asplenia had a wide spectrum of abnormalities including midline livers, rotational small bowel, colon abnormalities, and truncation of pancreas.[7]
Our patient did not fit in any of the given categories, as she had “Near-total” situs inversus, but for the failure of the DJ junction to cross the midline. The DJ junction was at the level of L2-3 vertebral bodies, with the jejunum not extending to the right of the midline and instead of curving backward to remain on the left of the midline. This made it implausible for the placement of the given case as of situs inversus totalis. Neither could this be stratified into heterotaxy subsets associated with polysplenia/asplenia. No similar case with isolated malposition of DJ junction in a “situs” case has been found reported in the available literature.
The finding assumes significance to reflect the viewpoint that heterotaxy involves different systems. Pre-determined subsets, such as asplenia or polysplenia, left or right isomerism, do not suffice to account for the overall constellation of findings when viewed in the perspective of the patient as a single entity. It makes more relevant to describe the system-wise features which allow for anticipation of functional abnormalities, as well as any interventions that may be deemed necessary in furtherance of the treatment protocol for the patient, for example, there is a lower risk of volvulus, when the DJ junction is positioned to the left of the midline. However, both the type of malrotation and the position of the DJ are of importance when determining clinical decisions.[5] Hence, a more rational way of classification approach to each patient with heterotaxy is pivotal to predict catastrophic complications and plan management.
Declaration of patient consent
The authors certify that they have obtained all appropriate patient consent forms. In the form the patient(s) has/have given his/her/their consent for his/her/their images and other clinical information to be reported in the journal. The patients understand that their names and initials will not be published and due efforts will be made to conceal their identity, but anonymity cannot be guaranteed.
Financial support and sponsorship
Nil.
Conflicts of interest
There are no conflicts of interest.
| References | | |
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| 2. | Kim SJ. Heterotaxy syndrome. Korean Circ J 2011;41:227-32. |
| 3. | Kim JG, Youn HJ, Kim GH, Park MH, Hur J, Yu JS, et al. Incidentally detected situs ambiguous in adults. J Cardiovasc Ultrasound 2011;19:211-5. |
| 4. | Applegate KE, Goske MJ, Pierce G, Murphy D. Situs revisited: Imaging of the heterotaxy syndrome. Radiographics 1999;19:837-52. |
| 5. | Supriya G, Saritha S, Madan S. Situs inversus totalis – A case report. IOSR Int J Appl Phys 2013;3:2278-4861. |
| 6. | Alshaikh MA, Al Ghadeer HA, Alabad H, Almohsin M, Al Ali RA. Situs inversus totalis in association with duodenal atresia. Cureus 2021;13:e17764. |
| 7. | Fulcher AS, Turner MA. Abdominal manifestations of situs anomalies in adults. Radiographics 2002;22:1439-56. |
| 8. | Mujo T, Finnegan T, Joshi J, Wilcoxen KA, Reed JC. Situs ambiguous, levocardia, right sided stomach, obstructing duodenal web, and intestinal nonrotation: A case report. J Radiol Case Rep 2015;9:16-23. |
[Figure 1], [Figure 2], [Figure 3], [Figure 4], [Figure 5], [Figure 6], [Figure 7]
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