Leukodystrophy

Leukodystrophies are hereditary diseases of the nervous system characterized by impaired myelogenesis due to a genetically determined enzyme defect. In this case, the breakdown of myelin occurs and the process of myelination is disrupted; there is a symmetrical lesion of the white matter of the brain and spinal cord. Leukodystrophies are inherited in an autosomal recessive manner, some forms are more common in boys.

Symptoms

Characteristic are the growing pyramidal, cerebellar, extrapyramidal disorders, bulbar and pseudo-bulbar symptoms, decreased vision and hearing, epileptiform seizures, progressive dementia. Sensory disturbances are not common. The disease begins most often in preschool age. The earliest symptoms include movement disorders in the form of central paralysis and paresis, as well as hyperkinesis, coordination disorders, and dysarthria. Later, convulsive seizures and atrophy of the optic nerves may join.

The entire group of leukodystrophy is characterized by an onset in childhood, less often in adolescence, a progressive course with the presence in the clinical picture as the leading symptoms of mental degradation, decreased vision and spastic paresis; in the terminal stage, the syndrome of decerebrate rigidity traditionally develops.

Morphological examination reveals symmetrical, diffuse, poorly demarcated areas of myelin decay in the hemispheres of the brain and cerebellum. Myelin lipid breakdown products accumulate in brain tissues and internal organs. Axons in the foci of myelin death and ganglion cells contain products of impaired myelin metabolism.

Diagnosis

It is put on the basis of biochemical data, clinical symptoms, CT and MRI data of the brain.

Treatment

It is put on the basis of biochemical data, clinical symptoms, CT and MRI data of the brain.

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