Heterotaxy Polysplenia Syndrome In An Adult With Unique Vascular Anomalies: Case Report With Review Of Literature

摘要

The pattern of anatomical organization of the thoraco-abdominal visceral and vascular structures which is not the expected normal arrangement, is called as situs ambiguous or heterotaxy syndrome. Patients with heterotaxy syndrome exhibit a wide spectrum of anatomical variations involving thoraco-abdominal structures. We present here an incidental finding of heterotaxy syndrome associated with unique vascular anomalies in a 35 year old male patient evaluated initially for nephrolithiasis by ultrasonography, and intravenous pyelography. Further evaluation by multidetector row computed tomography showed bilateral bilobed lungs with hyparterial bronchi, cardiac apex to the left, five branches from left-sided aortic arch with retroesophageal right subclavian artery, interrupted inferior vena cava with azygos continuation, left renal vein continuing as hemiazygos vein and replaced common hepatic artery arising from the superior mesenteric artery. Other vascular anomalies include right internal iliac vein joining the left common iliac vein and precaval course of the single main right renal artery. Anomalies involving abdominal organs include right-sided stomach, midline liver, multiple splenules (polysplenia) in right upper quadrant of abdomen, short truncated pancreas, intestinal malrotation, inversion of superior mesenteric vessels and a preduodenal portal vein. To the best of our knowledge this is the first report of association of left renal vein continuing as hemiazygos vein, precaval right renal artery and anomalous branching pattern of aortic arch with heterotaxy syndrome. Keywords: Heterotaxy syndrome, Polysplenia Syndrome, Situs ambiguous, Truncated pancreas, Interrupted inferior vena cava, Preduodenal portal vein, Intestinal malrotationCASE REPORTA 35 year old male was referred to our imaging center for the evaluation of suspected nephrolithiasis. Abdominal ultrasonography (USG) and Intravenous pyelography (IVP) revealed a large stone impacted at the pelviureteric junction (PUJ) and another small stone in the lower calyx of right kidney [Figure 1a,b]. Incidental observation of discordant position of gastric gas bubble on the right side in pyelogram and position of gall bladder in USG [Figure-1 c], prompted us for further evaluation of the patient by contrast enhanced computed tomography (CECT). Scanning was done from suprasternal notch to the level of pubic symphysis. A plethora of congenital anomalies involving thoraco-abdominal viscero- vascular structures were seen indicating the presence of heterotaxy polysplenia syndrome. Open in a separate windowFigure 1 A 35 year old male with heterotaxy polysplenia (left isomerism) syndrome. (a) - X-ray showing renal stones (black arrows) at PUJ and lower calyx of right kidney. Discordant position of gastric bubble was noted. (b and c)- USG images showing right kidney and gall bladder. Position of gall bladder was slightly to the left of midline. (Curvilinear 2.5 MHz probe; GE Voluson E8).