RT Book, Section A1 Bissonnette, Bruno A1 Luginbuehl, Igor A1 Engelhardt, Thomas SR Print(0) ID 1164076828 T1 Leukodystrophies: An Overview 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=1164076828 RD 2024/03/28 AB Leukodystrophies represent a large group of rare, progressive, metabolic, genetic diseases that affect the brain, spinal cord, and often the peripheral nerves. The word leukodystrophy comes from the Greek roots and means: leuko = “white”; dys = “lack of”; and troph = “growth.” Each type of leukodystrophy (see Table L-1) is caused by a specific gene that leads to an abnormal development or destruction of the myelin sheath of the white matter of specific areas of the brain. The neurological manifestations are directly associated to the brain area where the myelin sheath is affected. In general, the symptoms are characterized by a decreased motor function, muscular spasticity, and progressive loss of sight and auditory. When the age of onset is during infancy, it is usually associated with a life expectancy between 2 and 8 years. When it affects adults, they typically live more than a decade after the onset. The diagnosis is made with magnetic resonance imaging showing the degeneration of the white matter. Overall, the general incidence is estimated at 1:7,600 live births. The mode of inheritance is either recessive, dominant, or X-linked for most medical associated conditions. However, spontaneous mutations have been reported.