Lipoblastomatosis combined with intestinal neuronal dysplasia.

We report the case of a male infant with multifocal lipoblastomatosis and intestinal pseudo-obstruction for whom the pathologic findings of rectal biopsy were consistent with intestinal neuronal dysplasia. Lipoblastomatosis is a benign neoplasm of human fetal white adipose tissue that mainly occurs in infants and children. Intestinal neuronal dysplasia is a disorder that clinically mimics Hirschsprung's disease and that is pathologically characterized by parasympathetic hyperganglionosis of the enteric nervous system. To our knowledge, the combination of lipoblastomatosis and intestinal neuronal dysplasia has never been documented, and the gene mutations involved are completely different. In this case, therefore, we postulate that intestinal neuronal dysplasia may be secondary to either compression of the nerve tract or inhibition of bowel movement due to lipoblastomatosis.