Familial cases of the craniovertebral anomalies, Chiari malformation and syringomyelia (Literary review)
DOI: 10.22138/2500-0918-2016-15-3-75-84
N.E. Krupina
Ural State Medical University Ministry, Yekaterinburg, Russian Federation
Abstract.
Actuality. During the magnetic resonance imaging examination of patients with neurological diseases Chiari malformations were frequently revealed, often in combination with different bone craniovertebral anomalies and syringomyelia. These patients had gradual development of neurological symptoms, which led to the necessity of using medicinal and neurosurgical treatment. Aim and purposes of the investigation. Were to study the genetic aspects of craniovertebral anomalies, Chiari malformation and syringomyelia with the help of the literary review data of the familial cases of this pathology. The literature review presents a view of the researchers on the problem of the familial cases of basilar impression, Chiari malformation and syringomyelia published during the last 100 years. Conclusion and perspectives of the investigation. The fact of the familial distribution of the syringomyelia, basilar imptession and Chiari malformation must be taken into account for the early discovery of this combined pathology. It is documented that these malformations are interrelated and have one hereditary base, which is very useful for the medical genetic examination. Future studing of the genetic aspects of this pathology is perspective.
Keywords:
basilar imptession, Chiari malformation, syringomyelia
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Author
Krupina Natalia E.
Ural State Medical University
Doctor of Medical Sciences, Professor of the Department of Nervous Diseases, Neurosurgery and Medical Genetics
Russian Federation, 620219, Yekaterinburg, 3, Repina St.
krupina@gkb40.ur.ru
Received — 19.07.2016
For citation: Krupina N.E. Semejnye sluchai kraniovertebral'nyh anomalij, mal'formacii Kiari i siringomielii (Literaturnyj obzor) [Familial cases of the craniovertebral anomalies, chiari malformation and syringomyelia (Literary review)]. Vestn. Ural. Med. Akad. Nauki. – Journal of Ural Medical Academic Science. 2016, no. 3, pp. 75–84. DOI: 10.22138/2500-0918-2016-15-3-75-84 [In Russ.]
