CASE 15673 Published on 21.04.2018

Heterotaxy syndrome with polysplenia

Section

Abdominal imaging

Case Type

Clinical Cases

Authors

Maria Ana Serrado1, Guida Castanha1

Hospital Nélio Mendonça,
SESARAM;
Avenida Luís de Camões 9
004-514 Funchal, Portugal;
Email:mariaanaserrado@gmail.com
Patient

52 years, female

Categories
Area of Interest Abdomen, Head and neck ; Imaging Technique CT
Clinical History
A 52-year-old woman with history of fibromyalgia, atopic eczema, allergic rhinitis, asthma, hypoacusia, dysphonia, and peripheral venous insufficiency presented to our institution with recent onset of pruritus and arthralgia. Her daughter was diagnosed with systemic lupus erythematosus. Physical examination and laboratory tests excluded an autoimmune disease.
Imaging Findings
For better clarification of the clinical scenario a thoraco-abdomino-pelvic computed tomography (CT) was requested.
CT revealed polysplenia (Fig. 1a and 1b) and several vascular abnormalities (Fig. 1a to 1g). Vascular anomalies included interrupted inferior vena cava (IVC) with azygos and hemiazygos continuation, superior mesenteric vein rotation sign, anomalous origin of hepatic artery from superior mesenteric artery, preduodenal portal vein, precaval right renal artery, left renal vein bifurcation draining to IVC and hemiazygos vein and aberrant origin of the left vertebral artery from the aortic arch. Cardiac and lung anatomy was normal.
Discussion
Situs anomalies imply a disordered organ arrangement in the chest or abdomen. Situs solitus consists of the usual arrangement of organs and vessels within the body. Situs inversus is an anatomic arrangement that is the mirror image of situs solitus. Situs ambiguous or heterotaxy refers to visceral malposition and dysmorphism associated with indeterminate atrial arrangement [1]. Heterotaxy syndrome can be classified as heterotaxy syndrome with polysplenia (classically with bilobed lungs with hyparterial bronchi, bilateral pulmonary atria, midline liver, multiple spleens and variable location of the stomach) and heterotaxy syndrome with asplenia (classically with trilobed lungs with bilateral minor fissures and eparterial bronchi, bilateral systemic atria, midline liver, absent spleen and variable location of the stomach).
Heterotaxy syndrome with polysplenia has a reported incidence of 1/250000 live births and its cause remains unknown [2]. Only 5-10% of patients without cardiac malformations reach adulthood [2].
Heterotaxy syndrome with polysplenia is a heterogeneous disorder with a wide spectrum of anomalies, such as: cardiovascular anomalies, bilateral bilobed lungs with hyparterial bronchi, interrupted inferior vena cava with azygos (and hemiazygos) continuation, polysplenia, truncated short pancreas, midline liver, preduodenal portal veins, intestinal malrotation, stomach malrotation and biliary atresia [1, 2].
Interruption of the IVC with azygos and hemiazygos continuation is the most consistent finding in heterotaxy syndrome with polysplenia [1]. Preduodenal portal vein is another frequent anomaly with polysplenia. It is a surgically important anomaly and can produce pressure symptoms on the duodenum and bile duct [2].
In our case some vascular anomalies are rare. Anecdotal reports mention an anomalous origin of hepatic artery from superior mesenteric artery [2]. Rameshbabu et al reported for the first time a precaval position of single main right renal artery and aortic origin of the left vertebral artery associated with polysplenia [2]. To our knowledge this is the first case of left renal vein bifurcation draining to IVC and hemiazygos vein.
Due to the fact that there are almost an infinite number of combinations of possible malformations, all suspected cases should be labelled as heterotaxy syndrome and segmental or individualised approach for describing patients’ specific anomalies should be used [1].
Adult cases of heterotaxy with polysplenia are managed with palliative and symptomatic measures [2].
Differential Diagnosis List
Heterotaxy syndrome with polysplenia
Heterotaxy syndrome with asplenia
Situs inversus
Final Diagnosis
Heterotaxy syndrome with polysplenia
Case information
URL: https://eurorad.org/case/15673
DOI: 10.1594/EURORAD/CASE.15673
ISSN: 1563-4086
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