Krabbe-Beneke Disease

Krabbe-Benecke disease is a rare inherited disorder characterized by degeneration of the myelin sheath of nerve fibers in the brain and spinal cord.

The disease is named after the Danish neurologist Knud Krabbe, who first described it in 1916. Also known by synonyms: Krabbe disease, Krabbe globoid cell leukodystrophy, Krabbe diffuse infantile sclerosis.

Krabbe-Benecke disease is an autosomal recessive disorder caused by mutations in the GALC gene, which encodes the enzyme galactocerebrosidase. Deficiency of this enzyme leads to the accumulation of galactocerebroside and psychomotor degeneration.

Clinical manifestations usually occur between 3 and 6 months of age. Characterized by delayed psychomotor development, spasticity, blindness, deafness, and convulsions. The progressive course leads to severe disability and death in early childhood.

Diagnosis is based on the clinical picture, MRI of the brain and biochemical analysis of galactocerebrosidase activity. There is no effective treatment; symptomatic and supportive therapy is carried out. Hematopoietic stem cell transplantation is possible. The prognosis is poor, with most patients dying before 5 years of age.

Krabbe Disease Diseases of the nervous system The disease is characterized by a demyelinating process in the white matter of the spinal cord and optic nerve conductors, as well as in the brain stem and diencephalic region.[2][3][4]

There is also a decrease in mental abilities - with a decrease in intelligence.

The disease most often first appears in childhood, often with organic signs (damage to the oculomotor nerves); sometimes mental underdevelopment manifests itself later. Clinical manifestations vary. In the deep form, ataxia and, in some cases, hyperkinesis are observed. Intellectual disorders include: decreased criticism of one’s condition. Mental defect with a deep course of the disease is more pronounced than with a mild one. The disorder can lead to depression. But mostly people