Open AccessTwo cases of microvillous inclusion disease caused by novel mutations in MYO5B gene
Author(s) -
Comegna Marika,
Amato Felice,
Liguori Renato,
Berni Canani Roberto,
Spagnuolo Maria Immacolata,
Morroni Manrico,
Guarino Alfredo,
Castaldo Giuseppe
Publication year - 2018
Publication title -
clinical case reports
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.21
H-Index - 9
ISSN - 2050-0904
DOI - 10.1002/ccr3.1879
Subject(s) - medicine , inclusion (mineral) , disease , gene , mutation , genetics , biology , gender studies , sociology
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.