Early Onset Hepatocellular Disease in an Infant with Zellweger Syndrome.
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.
['Najafi Sani|Mehri|M|', 'Ahmadi|Mitra|M|', 'Roohani|Pejman|P|', 'Rezaei|Nima|N|']
D003937:Diagnosis, Differential D005260:Female D006801:Humans D007223:Infant D008055:Lipids D008107:Liver Diseases D010641:Phenotype D015211:Zellweger Syndrome
Zellweger syndrome Peroxisomal disorder Micorcluplication