early onset hepatocellular disease in an infant with zellweger syndrome

نویسندگان

mehri najafi sani department of pediatric gastroenterology, pediatrics center of excellence, children's medical center, tehran university of medical sciences, tehran, iran.

mitra ahmadi department of pediatric gastroenterology, pediatrics center of excellence, children's medical center, tehran university of medical sciences, tehran, iran.

pejman roohani department of pediatric gastroenterology, pediatrics center of excellence, children's medical center, tehran university of medical sciences, tehran, iran.

nima rezaei research center for immunodeficiencies, children's medical center, tehran university of medical sciences, tehran, iran. and department of immunology, molecular immunology research center, school of medicine, tehran university of medical sciences, tehran, iran. and network of immunity in infection, malignancy and autoimmunity (nima), universal scientific education and research network (usern), tehran, iran.

چکیده

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.

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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 h...

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عنوان ژورنال:
acta medica iranica

جلد ۵۵، شماره ۴، صفحات ۲۶۸-۲۷۰

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