Heterotaxy syndrome

Case contributed by Dr Lee-Anne Slater

Presentation

Prenatal concern was expressed regarding situs inversus because of a right sided stomach.

Patient Data

Age: day 1
Gender: Female
Modality: Ultrasound

US of the day one old female baby demonstrates a transverse liver. The stomach is seen on the right side. A single region of splenic tissue measuring less than 2cm was demonstrated on the left side. The cardiac apex was located to the left (not shown on these images).

Case Discussion

Findings are consistent with heterotaxy which is the term used to describe the range of condition in which there is failure of normal lateralization of organs. 

This baby girl is thought to have polysplenia syndrome because although multiple spleens were not seen on our patient's US, given the small size of the identified spleen it is suspected that this baby may have polysplenia with the other spleens not recognised at the time of scanning. This baby girl also had a transverse liver which is seen in this condition. 

The baby has not shown sign of any significant heart defects at this stage, however given that in polysplenia the associated congenital heart defects are milder and often do not present until later childhood she will be worked up further with an echo to assess for conditions such as endocardial cushoin defect and be assessed for conditions such as partial anomalous venous return and coarctation of the aorta which can be seen with polysplenia syndrome. 

She will also be assed for malrotation as these babies commonly have malrotation and in the absence of severe congenital heart defects are most often the earliest cause of morbidity and mortality if not previously identified.

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Case Information

rID: 14541
Case created: 4th Aug 2011
Last edited: 29th Sep 2015
Inclusion in quiz mode: Included

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