Rare association of polysplenia with anencephaly

Abstract

ABSTRACT Anencephaly is usually observed without association of severe malformations of other organs. A case of polysplenia, which was experienced in a 20-week-old anencephalic female fetus, was reported. The families of the parents had no history of neural tube defects. There was no consanguinity between the parents. The fetus showed a typical anencephaly with absent cranial vault, exophthalmus, hyperplastic thymus and hypoplastic adrenals. There was an atypical polysplenia consisting of five small spleens, absent gall bladder, short pancreas, small intestinal atresia and Fallot tetralogy. No visceral heterotaxy was observed in bronchi, lungs, liver or stomach. Though no direct association has been recognized between anencephaly and polysplenia, recent progresses in the studies of human fetuses and animal experiments help explain the relationship between anencephaly and heterotaxy syndrome. The mother of the present fetus had no history of hyperthermia, drug take or diabetes mellitus. She also had no infections such as virus and toxoplasma before and during pregnancy. There were no clues that would elucidate the etiology of the present anencephalic fetus with polysplenia. Precise surveillance and records of such cases should be advisable.