Two cases of microvillous inclusion disease caused by novel mutations in MYO5B gene. Issue 12 (30th October 2018)

• Record Type: Journal Article
• Authors: Comegna, Marika; Amato, Felice; Liguori, Renato; Berni Canani, Roberto; Spagnuolo, Maria Immacolata; Morroni, Manrico; Guarino, Alfredo; Castaldo, Giuseppe
• Is Part Of: Clinical case reports. Volume 6:Issue 12(2018)
• Page Start: 2451
• Page End: 2456
• Publication Date: 2018-10-30
• Subjects: chronic diarrhea -- congenital diarrheal disorders -- defects of enterocyte structure -- gene -- microvillous inclusion disease -- mutations; Medicine -- Periodicals; 616.09
• DOI: 10.1002/ccr3.1879
• Languages: English
• ISSNs: 2050-0904

Abstract

Key Clinical Message: Microvillous inclusion disease (MVID) typically appears with severe chronic diarrhea in the few days after birth and rapidly causes dehydration and metabolic acidosis. In this context, presenting two novel cases, we underline the crucial importance of mutation analysis for the diagnosis of this disease that may be easily misdiagnosed. Abstract : Microvillous inclusion disease (MVID) typically appears with severe chronic diarrhea in the few days after birth and rapidly causes dehydration and metabolic acidosis. In this context, presenting two novel cases, we underline the crucial importance of mutation analysis for the diagnosis of this disease that may be easily misdiagnosed.