European Journal of Pediatrics

, Volume 172, Issue 9, pp 1271–1275

Extraintestinal manifestations in an infant with microvillus inclusion disease: complications or features of the disease?

Authors

    • First Department of PediatricsAthens University Medical School
    • Neonatal Unit, First Department of PediatricsAthens University Medical School, “Aghia Sophia” Children’s Hospital
  • Eirini Koutsounaki
    • First Department of PediatricsAthens University Medical School
  • Anna-Venetia Skiathitou
    • First Department of PediatricsAthens University Medical School
  • Kalliopi Stefanaki
    • Department of Pathology“Aghia Sophia” Children’s Hospital
  • Evangelos Marinos
    • Laboratory of Histology and Embryology, Medical SchoolUniversity of Athens
  • Ioanna Panajiotou
    • First Department of PediatricsAthens University Medical School
  • Giorgos Chouliaras
    • First Department of PediatricsAthens University Medical School
Case Report

DOI: 10.1007/s00431-013-1948-0

Cite this article as:
Siahanidou, T., Koutsounaki, E., Skiathitou, A. et al. Eur J Pediatr (2013) 172: 1271. doi:10.1007/s00431-013-1948-0

Abstract

Microvillus inclusion disease (MVID), a rare severe congenital enteropathy characterized by intracytoplasmic microvillous inclusions and variable brush border atrophy on intestinal epithelial cells histology, is associated with defective synthesis or abnormal function of the motor protein myosin Vb encoded by the MYO5B gene. Although MYO5B gene is expressed in all epithelial tissues, it is unclear so far whether organs other than intestine are affected in MVID patients. We report a case of an infant with MVID who presented liver dysfunction, hematuria, and Pneumocystis jiroveci pneumonia during the course of the disease. It is discussed whether extraintestinal manifestations in this patient are secondary consequences of MVID or might be features of the disease associated with altered MYO5B function. Conclusions: MVID is classically included in the differential diagnosis of congenital diarrhea of secretory type. Recent advances in our knowledge regarding the role of myosin Vb in the pathophysiology of MVID is expected to clarify the clinical spectrum of the disease and the possible primary involvement of organs other than intestine.

Keywords

Myosin VbMVIDNeonatal diarrheaHematuriaLiver diseaseLungPneumocystis jiroveci

Copyright information

© Springer-Verlag Berlin Heidelberg 2013