Leukodystrophy

Leukodystrophies are hereditary diseases of the nervous system, characterized by a violation of myelogenesis due to a genetically determined enzyme defect. In this case, myelin disintegrates and the myelination process is disrupted; Symmetrical defeat of the white matter of the brain and spinal cord is noted. Leukodystrophy is inherited by autosomal recessive type, some forms in boys are more common.

Clinical picture. Characteristic are the growing pyramidal, cerebellar, extrapyramidal disorders, tabloid and pseudo-bulbar symptoms, decreased vision and hearing, epileptiform seizures, progressive dementia. Sensitivity disorders are rare. The disease begins most often in the preschool years. The earliest symptoms include motor disorders in the form of central paralysis and paresis, as well as hyperkinesia, coordination disorder, dysarthria. Later, convulsive attacks and atrophy of the optic nerves may join. The peculiarities of the biochemical and morphological pattern make it possible to distinguish a number of nosological forms: metochromatic leukodystrophy (Scholz-Greenfield), insufficiency of arylsulfatase A, globoid-cell leukodystrophy (Krabbe-Be-neke disease), Deficiency of galactosyl ceramidgalactosidase, Sudanophilic leukodystrophy (Peliceus-Merzbacher disease).

Diagnosis. It is based on biochemical data, clinical symptoms, CT and MR data of the brain.

Forecast. Adverse.

Treatment. Symptomatic, mainly anticonvulsant.