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Early Onset Hepatocellular Disease in an Infant With Zellweger Syndrome Pubmed



Sani MN1 ; Ahmadi M1 ; Roohani P1 ; Rezaei N2, 3, 4
Authors
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Authors Affiliations
  1. 1. Department of Pediatric Gastroenterology, Pediatrics Center of Excellence, Children's Medical Center, Tehran University of Medical Sciences, Tehran, Iran
  2. 2. Research Center for Immunodeficiencies, Children's Medical Center, Tehran University of Medical Sciences, Tehran, Iran
  3. 3. Department of Immunology, School of Medicine, Tehran University of Medical Sciences, Tehran, Iran
  4. 4. Universal Scientific Education and Research Network (USERN), Tehran, Iran

Source: Acta Medica Iranica Published:2015


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. © 2015 Tehran University of Medical Sciences. All rights reserved.