LIPOPROTEIN METABOLISM DISORDERS AND HEREDITARY NEUROLOGICAL DISEASE: BASSEN-KORNZWEIG SYNDROME
A. V. Sukhanov
Research Institute of Therapy and Preventive Medicine, Novosibirsk, Russia
Keywords: синдром Бассена-Корнцвейга, гипохолестеринемия, аполипопротеин В, периферическая нейропатия, церебеллярная атаксия, пигментный ретинит, Bassen-Kornzweig syndrome, hypocholesterolemia, apolipoprotein b, peripheral neuropathy, cerebellar ataxia, retinitis pigmentosa
Abstract
The literature data about the association between low levels of lipids (gipoholesterinemia) with the occurrence of neurological disorders in children and adolescents at the present time remains controversial. A sharp decrease of the cholesterol, phospholipids, triglycerides, chylomicrons and apob levels or their absence leads to the development of abetalipoproteinemia (Bassen-Kornzweig syndrome). The key clinical symptoms of abetalipoproteinemia are psychomotor retardation, progressive cerebellar ataxia, pigment degeneration of the retina, peripheral neuropathy, as well as gross changes in the skeleton (severe scoliosis and pes cavus). Key laboratory signs - changes in the lipid spectrum (a sharp decrease of the blood levels of apob, total cholesterol, phospholipids, triglycerides, chylomicrons) and acanthocytes in the blood smear. The treatment is based on the replacement of fat-soluble vitamins and symptomatic therapy.
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