Heterotaxy Syndrome with Intestinal Malrotation, Polysplenia and Azygos Continuity

Stéphanie Cupers,Brigitte Desprechins,Christine Van Linthout,Martine Demarche,Léon Rausin,Marie-Christine Seghaye

doi:10.4081/cp.2018.1004

Stéphanie Cupers, Brigitte Desprechins + Show 4 more

Open Access

https://doi.org/10.4081/cp.2018.1004

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Abstract

Heterotaxy syndrome is a situs anomaly that comprises a large spectrum of cardiac and extracardiac malformations. Its association with intestinal malrotation is frequent. This later might be asymptomatic or manifest by signs of abdominal discomfort or of intestinal obstruction. We report on the case of a full term, small for gestational age neonate in whom heterotaxy syndrome with partial situs inversus abdominalis, intestinal malrotation, polysplenia and vena azygos continuity was diagnosed at prenatal echography. Due to the high risk of volvulus carried by the malrotation, Ladd’s procedure was performed at the age of two months. Follow-up examination at the age of four years shows excellent post-operative result and normal development of the child.

Highlights

We report on the case r of a full term, small for gestational age e neonate in whom heterotaxy syndrome with partial situs inversus abdominalis, intestinal m malrotation, polysplenia and vena azygos continuity was diagnosed at prenatal echogm raphy
Heterotaxy is defined as the lateralization defect of normally lateralized thoracoabdominal organs such as the heart, the liver or the stomach, or as the asymmetry inversion of normally bilateral asymmetric organs such as the lungs
5 steps have been identified to establish normal asymmetry: i) signaling upstream of the primitive node,; ii) signaling at the node; iii) generation by the motile cilia of a nodal complete inversion ing abdominal discomfort that, due to the leftward flow of a fluid that transports morwhere thoraco-abdominal organs are in mir- known intestinal malrotation with volvulus phogenic proteins; iv) asymmetric gene ror image arrangement of the normal anato- risk, justified surgery

Summary

Case Report

We report on the case r of a full term, small for gestational age e neonate in whom heterotaxy syndrome with partial situs inversus abdominalis, intestinal m malrotation, polysplenia and vena azygos continuity was diagnosed at prenatal echogm raphy. Abdominal echography and barium transit confirmed the diagnosis of situs ambiguus involving stomach, duodenum and small intestine with inversion of the colic arch, persistence of the fetal cecum position in the left hypochondrium as well as an intestinal malrotation with volvulus risk (Figure 2). The procedure itself consisted of Ladd’s bands lysis that permitted to mobilize the ileo-cecal region, to enlarge the mesentery base, to perform appendicectomy and to place the intestine in a situation of complete common mesentery with all the small intestine on the leftand the colon on the right side. The child is well and without any complaint at the age of 4 years

Introduction

Findings

Complications due to intestinal malrotation and prevention