Situs inversus abdominalis, polysplenia, complex jejunal atresia and malrotation in a neonate: A rare association

Abstract

HighlightsA rare association of situs inversus, polysplenia and complex jejunal atresia is presented here.Cardiac and gastro-intestinal anomalies shouls always be suspected and investigated in a child with situs inversus.Pre-operative diagnosis of situs inversus has important implications for incision placement and surgical planning.

Polysplenia syndrome with complex heart disease and jejunal atresia with malrotation in neonate: A case report

“…Another recent case report published by Chinya et al described a patient with findings of complex jejunal atresia and polysplenia (three spleens) with the liver located predominantly on the left side of abdomen and levocardia with ostium secundum atrial septal defect. Polysplenia syndrome was diagnosed by abdominal ultrasound that was failed in our case.…”

Apple peel deformity and malrotation of gut: autopsy findings of a rare cause of mortality in utero

“…Also known as "pigtail-like syndrome" it is extremely rare and reported to occur in less than 5% of cases. Apple peel atresia may occur in isolation; however, it has been associated with malrotation of gut, and other anomalies (5). We present autopsy findings of a rare case of apple peel deformity due to jejunoileal atresia associated with malrotation of gut.…”

The twists and turns of left-right asymmetric gut morphogenesis

“…As the number and curvature of gut loops is dependent not only on the rate of gut lengthening, but also on the radius of the gut and the length/thickness of the mesentery (Nerurkar et al, 2017), any perturbation that alters the geometric and/or physical properties of different segments of the gut tube and/or the attached DM might influence the mechanics of looping and 'rotation'. For example, defects in the radial patterning and diameter of the gut tube itself may affect its mechanical properties and 'loopability'; indeed, intestinal narrowing (stenosis and/or atresia) has been associated with malrotation in humans (Adams and Stanton, 2014;Chinya et al, 2019;Ishii et al, 2020;Morikawa et al, 2009). Interestingly, these narrowing defects are often attributed to 'vascular accidents' that inhibit blood flow during gut development (Adams and Stanton, 2014;Ishii et al, 2020;Martin and Shaw-Smith, 2010).…”

“…In many cases, these asymmetries are evolutionarily conserved and necessary for physiological function, indicating that the formation of LR asymmetry is an essential phase of vertebrate organogenesis. Indeed, abnormal LR axis formationa condition known as heterotaxyis associated with some of the most common and severe structural birth defects, including complex congenital heart defects (CHDs), intestinal malrotation, extrahepatic biliary atresia, asplenia/polysplenia and other anomalies (Bartram et al, 2005;Chinya et al, 2019;Desgrange et al, 2018;Gabriel and Lo, 2020;Kothari, 2014;Ticho et al, 2000). Therefore, understanding the mechanisms that shape individual organ lateralities is not only necessary for illuminating the morphogenesis of numerous organs but could also be crucial for explaining the etiology of a wide variety of birth defects.…”