title: Microvillus inclusion disease: prenatal ultrasound findings, molecular diagnosis and genetic counseling of congenital diarrhea.
abstract: OBJECTIVE
  To present prenatal ultrasound findings and molecular diagnosis of microvillus inclusion disease, and to review the literature of abnormal prenatal ultrasound findings associated with congenital diarrhea.
  
  
  RESULTS
  A 21-year-old woman, gravida 1, para 0, had generalized bowel dilation of the fetus on prenatal ultrasound at 29 gestational weeks. She and her husband were non-consanguineous, and there was no family history of congenital diarrhea. Prenatal ultrasound at 29 gestational weeks revealed a honeycomb appearance of the bowel without ascites or intraperitoneal calcification. At 36 gestational weeks, polyhydramnios dilated bowel loops were observed, and a 3,355-g male baby was delivered with a distended abdomen. Postnatally, the neonate suffered from watery diarrhea and abdominal distension but there was no mechanical bowel obstruction. An endoscopic biopsy of the small bowel revealed intracytoplasmic inclusions lined by intact microvilli in the apical surface of the intestinal epithelial cells consistent with the diagnosis of microvillus inclusion disease. Mutation analysis of blood samples of the neonate and parents revealed a heterozygous nonsense mutation of c.445C <T, p.Q149X in exon 4 of the MYO5B gene in the father and proband, and a heterozygous nonsense mutation of c.1021C < T, p.Q341X in exon 9 of the MYO5B gene in the mother and proband.
  
  
  CONCLUSIONS
  Prenatal sonographic identification of dilated bowel loops in association with polyhydramnios suggests congenital diarrhea and a differential diagnosis of microvillus inclusion disease in addition to congenital chloride diarrhea and congenital sodium diarrhea. Molecular analysis of the MYO5B gene is helpful in genetic counseling and prenatal diagnosis of recurrent microvillus inclusion disease in subsequent pregnancies.
authors.affiliation: Department of Obstetrics and Gynecology, Mackay Memorial Hospital, Tao-Yuan, Taiwan. cpc_mmh@yahoo.com
authors.forename: Chih-Ping
authors.initials: CP
authors.lastname: Chen
authors.forename: Ming-Chou
authors.initials: MC
authors.lastname: Chiang
authors.forename: Tzu-Hao
authors.initials: TH
authors.lastname: Wang
authors.forename: Chuen
authors.initials: C
authors.lastname: Hsueh
authors.forename: Shueen-Dyh
authors.initials: SD
authors.lastname: Chang
authors.forename: Fuu-Jen
authors.initials: FJ
authors.lastname: Tsai
authors.forename: Chao-Ning
authors.initials: CN
authors.lastname: Wang
authors.forename: Schu-Rern
authors.initials: SR
authors.lastname: Chern
authors.forename: Wayseen
authors.initials: W
authors.lastname: Wang
mesh_terms: D018389:Codon, Nonsense; D003106:Colon / Q000000981:diagnostic imaging; D004252:DNA Mutational Analysis; D005220:Fathers; D005260:Female; D005315:Fetal Diseases / Q000000981:diagnostic imaging* / Q000235:genetics*; D005817:Genetic Counseling; D006801:Humans; D002479:Inclusion Bodies / Q000000981:diagnostic imaging / Q000235:genetics; D007231:Infant, Newborn; D007621:Karyotyping; D008286:Malabsorption Syndromes / Q000000981:diagnostic imaging / Q000235:genetics; D008297:Male; D008871:Microvilli / Q000000981:diagnostic imaging / Q000235:genetics / Q000473:pathology; D009035:Mothers; D009081:Mucolipidoses / Q000000981:diagnostic imaging / Q000235:genetics; D010375:Pedigree; D006831:Polyhydramnios; D011247:Pregnancy; D016216:Ultrasonography, Prenatal
chemical_list: D018389:Codon, Nonsense