title: Early Onset Hepatocellular Disease in an Infant with Zellweger Syndrome.
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.
authors.affiliation: Department of Pediatric Gastroenterology, Pediatrics Center of Excellence, Children's Medical Center, Tehran University of Medical Sciences, Tehran, Iran.
authors.forename: Mehri
authors.initials: M
authors.lastname: Najafi Sani
authors.affiliation: Research Center for Immunodeficiencies, Children's Medical Center, Tehran University of Medical Sciences, Tehran, Iran.
authors.forename: Mitra
authors.initials: M
authors.lastname: Ahmadi
authors.affiliation: Department of Pediatric Gastroenterology, Pediatrics Center of Excellence, Children's Medical Center, Tehran University of Medical Sciences, Tehran, Iran.
authors.forename: Pejman
authors.initials: P
authors.lastname: Roohani
authors.affiliation: Research Center for Immunodeficiencies, Children's Medical Center, Tehran University of Medical Sciences, Tehran, Iran. َAND Department of Immunology, School of Medicine, Tehran University of Medical Sciences, Tehran, Iran. AND 4Universal Scientific Education and Research Network (USERN), Tehran, Iran.
authors.forename: Nima
authors.initials: N
authors.lastname: Rezaei
mesh_terms: D003937:Diagnosis, Differential; D005260:Female; D006801:Humans; D007223:Infant; D008055:Lipids / Q000737:chemistry; D008107:Liver Diseases / Q000209:etiology* / Q000473:pathology; D010641:Phenotype; D015211:Zellweger Syndrome / Q000175:diagnosis / Q000503:physiopathology*
chemical_list: D008055:Lipids
keywords: Micorcluplication; Peroxisomal disorder; Zellweger syndrome