Ultrashort segment Hirschsprung disease. An objective picture of the disease substantiated by biopsy

Abstract

The enzyme histotopochemical characteristics of 18 cases with ultrashort Hirschsprung's disease - investigated during the past 20 years - are analysed. The aganglionic segment, having an extension of 1-3 cm, is characterised by an increase of acetylcholinesterase activity in parasympathetic nerve fibres of the muscularis mucosae. A similar increase of acetylcholinesterase in the nerve fibres of the lamina propria mucosae - as characteristic in Hirschsprung's disease - is usually absent. Strip biopsies which include mucosa of the linea dentata and the distal rectum often show the transition from the aganglionic to the innervated mucosa. To avoid a faulty diagnosis by overlooking an ultrashort Hirschsprung's disease, it is recommended to take the first biopsy from the linea dentata, and biopsies 1 cm, 2 cm and 4 cm above this level, or to conduct a strip biopsy of 1-2 cm length taken from this area. 2/3 of the cases investigated were diagnosed during the first year of life. In 1/3 of the cases the diagnosis was made in patients who were 4 to 21 years of age. The average incidence of the ultrashort Hirschsprung's disease is 10% in relation to all aganglionoses studied. In recent years, however, diagnosis of this particular rectum disease was made more often (14%) due to a better knowledge of the disease (6.8% of all investigated inborn innervation failures of the colon). Ultrashort Hirschsprung is a rare disease, although it is observed more often than total aganglionosis of the colon (Zuelzer-Wilson syndrome). The sex ratio, being 5 male male: 1 female, is within the range of Hirschsprung's disease. Hence, enzyme histotopochemical means enable substantiation of ultrashort Hirschsprung's disease as a special form of an aganglionosis of the distal rectum.