RT Book, Section A1 Bissonnette, Bruno A1 Luginbuehl, Igor A1 Engelhardt, Thomas SR Print(0) ID 1164078483 T1 Metachromatic Leukodystrophy T2 Syndromes: Rapid Recognition and Perioperative Implications, 2e YR 2019 FD 2019 PB McGraw-Hill Education PP New York, NY SN 9781259861789 LK accesspediatrics.mhmedical.com/content.aspx?aid=1164078483 RD 2024/10/07 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.