A simplified approach to diagnostic rectal biopsy in infants and children

Ninety-four patients underwent rectal biopsy with a suction capsule during a two year period. This painless procedure was performed in seventy-one patients for diagnosis of aganglionosis (Hirschsprung's disease). In nine patients, no ganglion cells were encountered, and subsequent surgery confirmed the diagnosis of Hirschsprung's disease in each of these patients. In twenty-three patients, biopsies were taken to search for neuronal storage disease. Six specimens contained abnormal material in the cytoplasm of the ganglion cells.