Clinical, laboratory and prognostic features of congenital large intestinal motor dysfunction (pseu do-Hirschsprung's disease)

Abstract

One hundred and forty-eight cases of congenital large intestinal motor dysfunction (pseudo-Hirschsprung's disease) were reported by members of the Japanese Society of Pediatric Surgeons during the past 20 years. The disorder was defined as a congenital, non-mechanical obstruction of the intestine with the presence of intramural ganglia in the terminal rectum. Intramural ganglia were abnormal in 77 cases, normal in 42, and could not be determined in 29. Of those with abnormal intramural ganglia, 54 had immature ganglia or hypoganglionosis (oligoganglionosis), 15 had neuronal intestinal dysplasia, and eight had a segmental anomaly. Of those with a normal myenteric plexus, 22 had chronic and twelve had suspected idiopathic intestinal pseudo-obstruction syndrome; eight had megacystis-microcolon-intestinal hypoperistalsis syndrome. While cases with both hypoganglionosis and normal intramural ganglia had normal acetylcholine esterase activity, a significantly greater number of patients with hypoganglionosis lacked normal rectoanal reflexes. Patients with hypoganglionosis, chronic idiopathic intestinal pseudo-obstruction syndrome, and megalocystis-microcolon-intestinal hypoperistalsis syndrome had poor prognoses with an overall mortality of 36.9%. These findings indicate that congenital large intestinal motor dysfunction remains a serious disease of childhood.

Benign Transient Non-Organic Ileus of Neonates

“…Thus, BTNIN is unlikely to belong to the same category as NID. Original Article BTNIN can be differentiated from HAD (5,7), which is also known as pseudo-Hirschsprungs disease (13), especially hypoganglionosis or immaturity of ganglia, both histologically and clinically. The onset of HAD is very early in the neonatal period (5, 7), and it requires aggressive, usually surgical treatment.…”

Heterozygous De Novo and Inherited Mutations in the Smooth Muscle Actin (ACTG2) Gene Underlie Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome

“…The first challenge in understanding the genetics of MMIHS has been in characterizing the clinical phenotype. MMIHS is part of a phenotypic spectrum that includes intestinal pseudo-obstruction [5] (OMIM 155310, 609629), hollow visceral myopathy [6], [7] (OMIM 609629), pseudo-Hirschsprung disease [8], and irritable bowel syndrome [9]. Functional gastrointestinal obstruction is also frequently observed associated with other abnormalities such as prune-belly syndrome (OMIM 100100), external ophthalmoplegia (OMIM 277320), and Barrett esophagus (OMIM 611376).…”

Congenital Myenteric Hypoganglionosis

“…5 Historically, some patients with CMH have likely been misdiagnosed as the immaturity of ganglia and vice versa. 8,13,17 Widely spaced myenteric ganglia have been described in the myenteric plexuses of patients with trisomy 21, but the ganglia are abnormally large, not hypoplastic, as in CMH. 18 Although the myenteric plexus in the transition zone of a patient with Hirschsprung disease may have identical histopathology to CHM, the 2 diagnoses are seldom in conflict because the former is usually diagnosed based on distinctive rectal biopsy findings (submucosal aganglionosis, nerve hypertrophy, and absent calretininimmunoreactive mucosal innervation), which are not observed in CMH.…”

“…5 In contrast with Hirschsprung disease, myenteric and submucosal ganglion cells are present along the entire length of the gastrointestinal tract, but the number of myenteric ganglion cells is markedly diminished due to a combination of a true paucity of neurons and poorly differentiated neurocytologic features. 5,6 CMH may be histologically identical to changes observed in the ganglionic transition zone, proximal to the aganglionic bowel in Hirschsprung disease, 7 and has often been grouped under headers such as "pseudo-Hirschsprung disease," 8 "variant Hirschsprung disease," 9 or "Hirschsprung diseaserelated allied disorders." 10 However, at present, no direct evidence exists for a causative relationship to Hirschsprung disease, and CMH has not been reported in siblings or parents of patients with Hirschsprung disease.…”