Information on familial cases of syringomyelia, basilar impression, and Chiari malformation

Abstract

The presence of familial cases of syringomyelia, basilar impression (intussusception) and Chiari malformation (MC) indicates the role of heredity in the occurrence of these diseases. Studies by a number of authors [32, 44] show that the primary pathology in this case is bone anomalies of the craniovertebral region (CVR), which contribute to the formation of the posterior cranial fossa (PCF) of reduced volume. As a result of this, the caudal parts of the cerebellum and the medulla oblongata descend through the foramen magnum (foramen magnum), i.e. formation of type I MC. In the presence of bone anomalies of KVO and MV type I, in some cases, a violation of CSF dynamics can occur at the level of the BVO, which will lead to the development and progression of syringomyelia. CVD abnormalities are, in turn, the result of defective development of the cartilaginous tissue of the bones of the skull and adjacent parts of the spine during the first weeks of embryonic development [34, 43]. Such dysembryogenesis may be due to dysfunction of genes that control the formation of the fifth occipital somite in the human body [49]. Literature data on familial cases of syringomyelia, basilar impression and MC confirm their common heredity basis.