Abstract

A male infant with pseudo-Hirschsprung's disease was treated for 2 years and 10 months, then died of severe enterocolitis. At autopsy examination of the entire gut was possible, and a definite histological examination could be performed which threw light on the pathogenesis. The ganglion cells of the esophagus, stomach, small intestine, colon and rectum were examined, diameters of their nuclei were measured, and their nuclear volumes were calculated. S-100 and anti-neurofilament stainings were also performed in an immunohistological investigation of the glial cells and nerve fibers. Both the diameter of the volume of the nuclei of the ganglion cells in the small intestine and colon were significantly smaller than normal. Even in the esophagus the nuclear volume was smaller than normal. The glial cells and nerve fibers gradually decreased in the caudal direction. Thus, histomorphometry and immunohistochemistry both showed that the neuroblasts in the intestine were immature and the migration of ganglion cells was disturbed in this case. The final diagnosis was hypogenesis of the intestine.

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