TY - CHAP M1 - Book, Section TI - Metachromatic Leukodystrophy A1 - Bissonnette, Bruno A1 - Luginbuehl, Igor A1 - Engelhardt, Thomas PY - 2019 T2 - Syndromes: Rapid Recognition and Perioperative Implications, 2e AB - It is an inherited disorder of the myelin metabolism with progressive loss of white matter in the central and peripheral nervous system. It is the most common form of leukoencephalopathy and is characterized by sulfatide accumulation in the brain and other areas of the body (liver, gall bladder, kidneys, and/or spleen). Clinical manifestations may include seizures, behavioral changes, spasticity, progressive dementia, psychomotor dysfunction leading to paralysis, and visual impairment leading to blindness. Metachromatic leukodystrophy (MLD) is part of a spectrum of diseases called leukodystrophies that results from a defect in lysosomal storage and consequently causes anomalies in sphingomyelin in the central nervous system. SN - PB - McGraw-Hill Education CY - New York, NY Y2 - 2024/10/07 UR - accesspediatrics.mhmedical.com/content.aspx?aid=1164078483 ER -