A clinical case of POL3A-associated hypomyelinating leukodystrophy with spinal cord lesion with a debut in early childhood

Leukodystrophies are a group of hereditary progressive diseases the central nervous system characterized by selective lesions in white matter with specific involvement glial cells. There hypomyelinating (absence myelin deposition), demyelinating (loss previously deposited myelin), dysmyelinating (deposition structurally or biochemically abnormal and myelinolytic leukodystrophies (myelin vacuolization). Hypomyelinating (HL), like most leukodystrophies, debut childhood adolescence course disease. HL occurs as result impaired synthesis proteins responsible for development, structure, integrity sheath, involved processes transcription translation. In latter group, main role is assigned to associated biallelic mutations genes RNA polymerase III complex, POLR3: POLR3A, POLR3B, POLR1C, POLR3K. The diagnosis can be confirmed magnetic resonance imaging brain. POLR3A-associated manifested hypomyelination, hypodontia, hypogonadotropic hypogonadism. features POLR3-associated include diffuse hypomyelination relative preservation dentate nuclei, anterolateral nuclei thalamus, globus pallidus, pyramidal tracts at level posterior part internal capsules, corona radiata. some cases, thinning corpus callosum atrophy cerebellum were also noted. article presents clinical case patient POL3A-associated spinal cord injury early childhood.