Radiological Diagnosis of a Left Isomerism Heterotaxy Associated to an Esophagogastric Motility Disorder: A Case Report

Abstract

Situs ambiguous (isomerism) also known as heterotaxy syndrome is an abnormality of lateralization during embryogenesis resulting in atypical anatomy. This is an intermediate configuration between situs inversus and situs solitus with one or more organs in symmetry or even duplicated. Left isomerism is a splitting of the anatomical configuration of the left side; the right and left sides being identical to the image on the left side, we therefore have polysplenia, an interruption of the inferior vena cava with the azygos/hemiazygos continuation. We report a case of left isomerism of a twelve -year-old girl diagnosed by CT scan associated with entire colon and complete common mesentery located on the left, small intestine and stomach distended up the iliac region transposed to the right, a midline liver with transposition of the abdominal vessels and gallbladder, and a polysplenia. These anomalies were associated with a megaesophagus probably linked to a motility abnormality. Since laterality defects are rare, more data on their anatomical variations could help provide better medical care to this patient population in the future. Their associations with other anomalies, particulary digestives and vasculary ones require particular multidisciplinary attention, the role of the radiologist being central in the management of the multiple variation.