title: Intestinal microvillous atrophy in a patient with Down syndrome and aganglionic megacolon.
abstract: Intestinal microvillous disorders are an uncommon cause of severe diarrhea, with very poor prognosis. The authors report the case of a female infant with Down syndrome, aganglionic megacolon, severe diarrhea, and jejunal biopsy with ultrastructural changes consistent with microvillous atrophy. The patient condition improved after a colostomy performed in the setting of the treatment of Hirschprung disease.
authors.affiliation: Department of Pathology, Hospital Universitario 12 de Octubre, Madrid, Spain. mmartinezg@hdoc.insalud.es
authors.forename: Miguel A
authors.initials: MA
authors.lastname: Martínez
authors.forename: Anastasio Serrano
authors.initials: AS
authors.lastname: Egea
authors.forename: Javier Manzanares
authors.initials: JM
authors.lastname: López
authors.forename: Enrique Medina
authors.initials: EM
authors.lastname: Benítez
mesh_terms: D000110:Acetylcholinesterase / Q000032:analysis; D001284:Atrophy / Q000150:complications / Q000473:pathology; D003106:Colon / Q000201:enzymology / Q000473:pathology; D003125:Colostomy; D003968:Diarrhea, Infantile / Q000209:etiology / Q000473:pathology; D004314:Down Syndrome / Q000150:complications / Q000473:pathology*; D020895:Enterocytes / Q000201:enzymology / Q000648:ultrastructure; D005260:Female; D006627:Hirschsprung Disease / Q000150:complications / Q000473:pathology* / Q000601:surgery; D006801:Humans; D007223:Infant; D007413:Intestinal Mucosa / Q000201:enzymology / Q000648:ultrastructure*; D007583:Jejunum / Q000378:metabolism / Q000473:pathology; D010503:Periodic Acid-Schiff Reaction; D016896:Treatment Outcome
chemical_list: D000110:Acetylcholinesterase