ZELLWEGER SYNDROME

Course overview

ZELLWEGER SYNDROME, ALSO KNOWN AS CEREBROHEPATORENAL SYNDROME, IS A RARE INHERITED DISORDER CHARACTERIZED BY THE ABSENCE OR REDUCTION OF FUNCTIONAL PEROXISOMES. IT IS AUTOSOMAL RECESSIVE AND IS DUE TO A DEFECT IN THE PEX GENE. IT IS A RAPIDLY PROGRESSIVE DISORDER WITH A HIGH MORTALITY RATE. WITH NO CURATIVE TREATMENT AVAILABLE, TREATMENT OPTIONS ARE LIMITED TO SUPPORTIVE CARE TO IMPROVE QUALITY OF LIFE. THIS ACTIVITY DESCRIBES THE EVALUATION AND MANAGEMENT OF ZELLWEGER SYNDROME AND HIGHLIGHTS THE ROLE OF THE INTERPROFESSIONAL TEAM IN THE CARE OF PATIENTS WITH THIS CONDITION.