Axonal Dystrophy Presenting as the Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome

Abstract

Megacystis-microcolon-intestinal hypoperistalsis syndrome (MMIHS) is a neonatal intestinal syndrome, characterized by defective peristalsis and bladder dilatation, refractory to pharmacological treatment. Examinations of bowel and bladder have failed to demonstrate a pathological explanation for this syndrome. We describe a 7-month-old female infant with MMIHS who had generalized axonal dystrophy of her central, peripheral, and autonomic nervous systems, which may provide a neuropathological explanation for some cases of MMIHS.

Sonographic findings in a fetus with megacystis-microcolon–intestinal hypoperistalsis syndrome

“…It is also not clear whether MMIHS is primarily a neuropathy or a myopathy. 17 The hypoperistalsis has been attributed to visceral myopathy, 6 dysganglionosis, 18,19 an imbalance of gut peptides, 20 functional disturbances in inhibitory autonomic innervation, 21 axonal dystrophy, 22 and an endorgan receptor defect confined to the smooth muscle. 13 In addition, Srikanth et al 10 proposed that an in utero intramural inflammatory process causes hollow viscus smooth muscle and the neural network to be destroyed, leading to fibrosis of the bowel and bladder wall.…”

Prenatal diagnosis of megacystis‐microcolon‐intestinal hypoperistalsis syndrome: contribution of amniotic fluid digestive enzyme assay and fetal urinalysis

“…The aetiology of MMIHS is not fully understood. Hypoperistaltis has been attributed to a variety of factors such as immaturity or dysfunction of autonomic nerve endings in the gastrointestinal tract (Gillis and Grantmyre, 1985;Kubota et al, 1989), axonal dystrophy (Al Rayess and Ambler, 1992), degenerative disease of visceral smooth muscles (Puri et al, 1983), imbalance in gut peptides (Toguchi et al, 1989), and destruction of smooth muscles and neural network with fibrosis of bladder and bowel wall (Srikanth et al, 1993). No genetic locus for MMIHS has yet been identified.…”

Combined living-related segmental liver and bowel transplantation for megacystis-microcolon-intestinal hypoperistalsis syndrome

“…On histologic examination, most patients have normal ganglion cells in the myenteric and submucosal plexuses; however, there have case reports of decreased ganglia in some and hyperganglionosis and giant ganglia in others [4]. Other hypothesis for MMIHS have included disturbances in myocellular contractile fiber synthesis [11], imbalance between gut peptides [12], intestinal myopathy [13], neuroaxonal dystrophy [14], and defective autonomic inhibitory neuroeffector activity [15].…”