• Title of article

    Early Onset Hepatocellular Disease in an Infant with Zellweger Syndrome .

  • Author/Authors

    Najafi Sani، Mehri نويسنده Children Medical Center Hospital, Tehran University School of Medical Sciences, Tehran, Iran , , Ahmadi، Mitra نويسنده Research Center for Immunodeficiencies, Childrens Medical Center, Tehran University of Medical Sciences, Tehran, Iran. Ahmadi, Mitra , Roohani، Pejman نويسنده Department of Pediatric Gastroenterology, Pediatrics Center of Excellence, Childrens Medical Center, Tehran University of Medical Sciences, Tehran, Iran. Roohani, Pejman , Rezaei، Nima نويسنده ,

  • Issue Information
    ماهنامه با شماره پیاپی 0 سال 2015
  • Pages
    3
  • From page
    656
  • To page
    658
  • Abstract

    Zellweger syndrome (ZS) is a peroxisomal disorder with a multiple congenital anomalies, characterized by stereotypical facies, profound hypotonia, organ involvement including cerebral, retinal, hepatic, and renal. Herein, a 3-month-old female with ZS is presented who was referred because of increased liver enzymes (subclinical hepatitis), which was detected in work-up of her neck cyst, severe hypotonia, and abnormal facies. An increased concentration of very long chain fatty acid in lipid profile was detected. ZS should be considered in the list of differential diagnosis in infants with stereotypical phenotype, neurodevelopmental delay, and severe hypotonia in association with liver and other organs involvement.

  • Journal title
    Acta Medica Iranica
  • Serial Year
    2015
  • Journal title
    Acta Medica Iranica
  • Record number

    2385672

    • Link To Document
    https://search.isc.ac/dl/search/defaultta.aspx?DTC=10&DC=2385672