Pulmonary Hypoplasia Associated with Multiorgan Developmental Abnormalities – a Rare Case Report

Our patient had an anterior encephalocele accompanied by teratoma. According to our extensive literature review, this association was very rarely reported so far[2,4]. Several hypotheses had been suggested to describe the pathogenesis of encephaloceles or teratomas but association of two entities cannot be simply explained by these models. Enrolment of tissue induction through different steps of embryogenesis and neurolation has been suggested in the pathogenesis. Migration and differentiation of neural crest cells affect greatly the fate of other cells and interrupted migration[5,6]. Human neural crest cells develop late at the first month of embryonic period and give rise to neurons and glial cells of peripheral nervous system, meninges, dermis, bone, cartilage and some other tissues[7]. Failure of neural crest cells migration, by interrupting this induction effect and preventing correctly cell differentiation can result in major structural defects like encephalocele. Surprisingly, human neural crest cells have the characteristic of uncommitted stem cells due to highly similar molecular profile to pluripotent embryonic stem cells. On this basis, neural crest cells can be able to produce tumors consisting of three germ layers, commonly called teratomas[7]. However, by this hypothesis we would expect higher incidence of encephaloceles containing teratomas. This controversy might be solved by assuming that formation of these two entities needs defect in early stages of differentiation, resulting in defective development of other structures and putting the embryo in the risk of prenatal death. The other hypothesis can be interpositioning of teratomatous cells in the tissue producing the future skull that makes bone defect and subsequently encephalocele[4]. The impact of basal encephaloceles on the surrounding tissues develops hypertelorism which progresses rapidly during first years of life. Early surgical correction of this abnormality can stop or even prevent hypertelorism.