Megacystis microcolon intestinal hypoperistalsis syndrome

Abstract

Megacystis microcolon intestinal hypoperistalsis syndrome (MMIHS) is a rare cause of intestinal obstruction mainly affecting female neonates. We present a case of a newborn female infant with a history of abdominal distension, bilious vomiting and decreased urine output. Barium enema showed a microcolon. Patient died soon after admission and the autopsy revealed a shortened bowel, a microcolon with abundant ganglion cells in the myenteric plexus, and an enlarged urinary bladder. An interesting finding in this case was the presence of enlarged nerve bundles containing several large ganglion cells on the lateral wall of the cervix. The salient clinical and autopsy findings in this case are presented.

Nicotinic mechanisms in the autonomic control of organ systems

“…The prognosis is very poor, and the disease is usually lethal within a few months after birth. In this disorder, despite the presence of neuronal cells in the enteric plexuses (Chung et al, 1998;Makhija et al, 1999), the whole intestine shows no peristalsis, and there is a decrease in autonomic inputs to the intestinal musculature in the presence of normal spontaneous myogenic activity (Kubota et al, 1989). Identification of the anatomical localization and the subunit composition of nAChRs will be necessary to understand the role of these receptors in the molecular mechanisms that govern gut function.…”

Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome: A Case Report

“…Some of the theories are the lack of nicotinic acid receptor subunits, a defect in fiber synthesis, an inflammatory process of the gastrointestinal and urinary tract, generalized axonal dystrophy in central, and peripheral and autonomic nervous system [3, 8, 9, 11–15]. …”

“…Also, a case without ganglion cells has been reported, too [2, 3, 11, 12, 16, 17]. In addition, vacuolization and degeneration in bladder and intestinal smooth muscle have been shown in pathological examinations [8, 12, 18].…”

Megacystis‐microcolon‐intestinal hypoperistalsis syndrome and aganglionosis in trisomy 18

“…Thus, most (31/39) died before the age of 6 months. Enlarged nerve bundles with large ganglion cells in the lateral wall of the cervix [Makhija et al, 1999] and absence of ganglion cells in the bladder have been noted [Lashley et al, 2000]. Death was mostly due to renal insuf®ciency, postoperative complications, or infections.…”