Familiar Occurrence of Desmosis of the Colon – Report of Two Cases and Literature Review

Abstract

Gastrointestinal motility disorders are relatively common in children and adolescents. The diagnosis is often difficult and time-consuming as the etiology of the problems includes different pathological entities such as enteric neuropathies, myopathies and collagenopathies. Hirschsprung's disease (HD) is one of the most common and best recognized disorders, particularly in infants. Whereas, desmosis of the colon is a rare condition characterized by total or focal lack of connective-tissue net of the circular and longitudinal muscles without any abnormalities within enteric nervous system (ENS). Its diagnosis is based on full-thickness intestinal biopsy or post-operative material followed by histological staining with pricrosirius red. We present two adolescent girls who were familiar related (the same mother, different fathers) and both of them suffered from chronic constipations. HD was excluded in these cases and surgical removal of impaired part of intestines was performed. Material from post-operative specimens proved desmosis of the colon in each patient.