Megacystis microcolon intestinal hypoperistalsis syndrome (MMIHS) is a rare congenital anomaly with decreased muscular tone in the urinary tract and intestine. MMIHS is characterized by prenatal-onset distended urinary bladder with functional intestinal obstruction. Hypoperistalsis causes a pseudo-obstruction which leads to a shortened and malrotated microcolon and food intolerance. MMIHS usually affects women, and is almost lethal in the first year of life. Although pro-kinetic agents and alimentation have prolonged life in some cases, but the long term outcome remains poor. Extensive surgical intervention is required for survival. Pathogenesis of MMIHS remains unclear but impaired peristalsis seems to be owing to abnormal ganglion cells pattern and absence of interstitial Cajal cells. While it is believed to be an autosomal recessive disorder, most cases are sporadic. It has been identified de novo ACTG2 mutations cause MMIHS.
Category
Congenital malformation
Brite
Human diseases in ICD-11 classification [BR:br08403]
20 Developmental anomalies
Multiple developmental anomalies or syndromes
LD2F Syndromes with multiple structural anomalies, without predominant body system involvement
H01869 Megacystis microcolon intestinal hypoperistalsis syndrome
Pathway-based classification of diseases [BR:br08402]
Signal transduction
nt06528 Calcium signaling
H01869 Megacystis microcolon intestinal hypoperistalsis syndrome
Cellular process
nt06539 Cytoskeleton in muscle cells
H01869 Megacystis microcolon intestinal hypoperistalsis syndrome
Halim D, Wilson MP, Oliver D, Brosens E, Verheij JB, Han Y, Nanda V, Lyu Q, Doukas M, Stoop H, Brouwer RW, van IJcken WF, Slivano OJ, Burns AJ, Christie CK, de Mesy Bentley KL, Brooks AS, Tibboel D, Xu S, Jin ZG, Djuwantono T, Yan W, Alves MM, Hofstra RM, Miano JM
Title
Loss of LMOD1 impairs smooth muscle cytocontractility and causes megacystis microcolon intestinal hypoperistalsis syndrome in humans and mice.
