TY - CHAP M1 - Book, Section TI - Zellweger Syndrome A1 - Bissonnette, Bruno A1 - Luginbuehl, Igor A1 - Engelhardt, Thomas Y1 - 2019 N1 - T2 - Syndromes: Rapid Recognition and Perioperative Implications, 2e AB - Most severe manifestation of disease within the spectrum of peroxisome biogenesis disorders. The disease affects brain development, particularly nerve myelination. Most important features include hepatomegaly, polycystic kidney disease, visual disturbances, and high plasma levels of iron and copper. Other clinical features include muscular hypotonia noticeable at birth, mental retardation, seizures, coagulopathy, and dysphagia with recurrent aspiration. Life expectancy is approximately 6 months but may reach infancy or late childhood in milder forms. SN - PB - McGraw-Hill Education CY - New York, NY Y2 - 2024/03/28 UR - accesspediatrics.mhmedical.com/content.aspx?aid=1164088647 ER -