Neurodegeneration with iron accumulation in the brain, peculiarities of course and approach to treatment

Abstract

Neurodegenerations with brain iron accumulation (NBIA) constitute a group of genetically determined and clinically heterogeneous forms of progressive neurological pathology associated with the accumulation of iron in the basal ganglia and other structures of the brain, which, in turn, causes their dysfunction. Both childhood and adulthood onset of the disease is possible. Objective: to draw the attention of doctors to the importance of timely diagnosis of neurodegenerative diseases, which are manifested by movement disorders and abnormal accumulation of iron in various structures of the brain. Movement disorders, mostly a combination of parkinsonism, dystonia, pyramidal insufficiency and ataxia, are dominant in the clinical picture of NBIA. Areas of iron deposition are detected on magnetic resonance imaging as bilateral hypodense zones, in the center of which hyperdense foci are determined in many cases, probably due to the gliosis, mainly in the area of the globus pallidus (eye-of-the-tiger sign). Typical neuroimaging signs help make a preliminary diagnosis of NBIA with a high probability, in the presence and sometimes even before the appearance of clinical manifestations of the disease, reducing costs and time for additional research. The paper describes a clinical case of NBIA associated with the protein of the mitochondrial membrane, and also highlights the latest data on clinical manifestations, diagnosis and modern management of this pathology. The possibility and importance of modern diagnosis and therapy in childhood have been demonstrated. Genetic examination remains crucial for the verification of the hereditary degenerative disease and determination of its form. The analysis of literature data and the results of own observations confirm the importance of the given main directions of available symptomatic treatment, as well as approaches to pathogenetic therapy, which still require further clinical trials. The given clinical observation and the analysis of literature data on the problem of NBIA reflect the expediency of searching for characteristic neuroimaging patterns in patients with motor (extrapyramidal, pyramidal, coordination) disorders with further verification of the diagnosis by means of molecular genetic research.