An Unusual Presentation of Heterotaxy Syndrome

Abstract

Heterotaxy is a pattern of anatomical organization of the thoracoabdominal organs in a manner, which is not the usual or normal arrangement. It is classically subdivided into the subsets of asplenia and polysplenia syndrome. Here, we present our findings in a female cadaver which do not conform to the usual subset of asplenia or polysplenia, and in fact, showed hyposplenia with a subhepatic cecum and bilateral bilobed lungs. Polysplenia has traditionally been thought to be associated with anomalies of intestinal rotation. The incidence is not known, but they are collectively termed malrotation and include nonrotation, incomplete, or the rare reversed rotation. Asplenia is also documented with a high degree of abdominal heterotaxy. This particular case does not conform to the traditional classification of asplenia or polysplenia. Features suggestive of polysplenia, in this case, are bilateral bilobed lungs and situs ambiguous. In concordance with asplenia, it has a spleen of reduced size and a large liver with extra lobation, which shows that it does not confine to a single subset. It is suggested that a separate entity of hyposplenia may also be considered, that warrants further research.