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Rudolph's PediatricsRudolph's Pediatrics

Section 29. Disorders of the Nervous System > 

Part 7. Developmental Delay and Regression > 

Chapter 576. Leukoencephalopathies

Mark P. Gorman
Topics Discussed: hematopoietic stem cell transplantation; leukodystrophy; leukoencephalopathies; neurology.
Sections: X-Linked Adrenoleukodystrophy, Aicardi-Goutieres Syndrome, Alexander Disease, Canavan Disease, Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy, Globoid Cell Leukodystrophy (Krabbe Disease), Hypomyelination with Atrophy of the Basal Ganglia and Cerebellum, Hypomyelination and Congenital Cataract, Megalencephalic Leukoencephalopathy with Subcortical Cysts (MLC), Metachromatic Leukodystrophy (MLD), Pelizaeus-Merzbacher Disease, Vanishing White Matter Disease, 18q Deletion Syndrome, References.
Excerpt:"Leukoencephalopathies comprise a clinical and radiographic heterogeneous group of disorders. All these disorders share the common features of neurologic dysfunction and preferential involvement of CNS white matter. Although white matter can be affected by many different processes, the term leukodystrophy is generally reserved for those with an identified or presumed genetic basis that is associated with a loss of previously formed myelin. Acquired causes of white matter dysfunction include infectious (such as encephalitis), inflammatory (such as acute disseminated encephalomyelitis and multiple sclerosis; see Chapter 556, nutritional (such as vitamin B12 deficiency), and neoplastic (such as astrocytoma) etiologies. When evaluating a patient with a suspected leukoencephalopathy, these acquired disorders should be considered and excluded with specific testing when clinically indicated. ..."
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