title: Megacystis-microcolon-intestinal hypoperistalsis syndrome (MMIHS): report of a case with prolonged survival and literature review.
abstract: Megacystis-microcolon-intestinal hypoperistalsis syndrome (MMIHS) was first described in 1976. A rare congenital autosomal recessive alteration that predominantly affects females (4:1 ratio), it is characterized by the presence of distended bladder (without distal urinary tract obstruction), microcolon, and decreased or absent intestinal peristalsis. Inconsistent and non-specific histological changes affecting the bladder and intestinal smooth muscle, and intrinsic innervations, have been reported most frequently. MMIHS usually has a fatal prognosis in the first year of life; nevertheless there are some case reports of longer survival. Here is presented the case report of a boy with a diagnosis of MMIHS who has achieved prolonged survival, followed by a review of the literature.
authors: Unidad de Investigación Médica en Genética Humana, Hospital de Pediatría, Centro Médico Nacional Siglo XXI, Instituto Mexicano del Seguro Social, Av. Cuauhtémoc 330, Col. Doctores C.P. 06720, México D.F., Mexico. astridkaryme2001@yahoo.com.mx
authors: Eunice
authors: E
authors: López-Muñoz
authors: Adelina
authors: A
authors: Hernández-Zarco
authors: Amilcar
authors: A
authors: Polanco-Ortiz
authors: Judith
authors: J
authors: Villa-Morales
authors: Leovigildo
authors: L
authors: Mateos-Sánchez
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis* / Q000235:genetics* / Q000601:surgery; D000328:Adult; D002675:Child, Preschool; D003106:Colon / Q000002:abnormalities / Q000601:surgery; D005260:Female; D006801:Humans; D007418:Intestinal Pseudo-Obstruction / Q000175:diagnosis* / Q000235:genetics* / Q000601:surgery; D008136:Longevity; D008297:Male; D010375:Pedigree; D011247:Pregnancy; D011379:Prognosis; D001743:Urinary Bladder / Q000002:abnormalities / Q000601:surgery