Leptomeningeal amyloidosis: features of the clinical picture (clinical observation)
Hereditary transthyretin amyloidosis belongs to a group of diseases with an autosomal dominant type of transmission and a heterogeneous clinical picture, which depends on the type of transthyretin gene mutation. The leptomeningeal form is a rare phenotypic variant of amyloidosis with a predominant i...
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| Format: | Article |
| Language: | Russian |
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IMA-PRESS LLC
2022-12-01
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| Series: | Неврология, нейропсихиатрия, психосоматика |
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| Online Access: | https://nnp.ima-press.net/nnp/article/view/1923 |
| _version_ | 1797876291773399040 |
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| author | E. I. Safiulina O. E. Zinovieva N. S. Shcheglova V. V. Rameev Z. V. Surnina E. N. Nikitina O. A. Vorobieva |
| author_facet | E. I. Safiulina O. E. Zinovieva N. S. Shcheglova V. V. Rameev Z. V. Surnina E. N. Nikitina O. A. Vorobieva |
| author_sort | E. I. Safiulina |
| collection | DOAJ |
| description | Hereditary transthyretin amyloidosis belongs to a group of diseases with an autosomal dominant type of transmission and a heterogeneous clinical picture, which depends on the type of transthyretin gene mutation. The leptomeningeal form is a rare phenotypic variant of amyloidosis with a predominant involvement of brain and spinal cord meninges, as well as cortical meningeal vessels. The main manifestations of this phenotype include cephalalgic syndrome, episodes of acute cerebrovascular accident, hearing impairment, epileptic seizures, progressive cognitive impairment reaching the degree of dementia, impaired consciousness, etc. The article describes a clinical case of revealing of amyloidogenic mutation Ala45Thr with a hereditary family history and typical manifestations of leptomeningeal amyloidosis at the onset of the disease, as well as impaired renal function. Neuroimaging with contrast enhancement revealed a characteristic thickening of the meninges of the spinal cord due to the deposition of amyloid masses. |
| first_indexed | 2024-04-10T01:59:53Z |
| format | Article |
| id | doaj.art-7d08b9bd50d84effb6057a28fa24dce7 |
| institution | Directory Open Access Journal |
| issn | 2074-2711 2310-1342 |
| language | Russian |
| last_indexed | 2024-04-10T01:59:53Z |
| publishDate | 2022-12-01 |
| publisher | IMA-PRESS LLC |
| record_format | Article |
| series | Неврология, нейропсихиатрия, психосоматика |
| spelling | doaj.art-7d08b9bd50d84effb6057a28fa24dce72023-03-13T08:42:23ZrusIMA-PRESS LLCНеврология, нейропсихиатрия, психосоматика2074-27112310-13422022-12-01146677210.14412/2074-2711-2022-6-67-721325Leptomeningeal amyloidosis: features of the clinical picture (clinical observation)E. I. Safiulina0O. E. Zinovieva1N. S. Shcheglova2V. V. Rameev3Z. V. Surnina4E. N. Nikitina5O. A. Vorobieva6Kozhevnikov Clinic of Nervous DiseasesDepartment of Nervous System Diseases and Neurosurgery, N.V. Sklifosovsky Institute of Clinical MedicineKozhevnikov Clinic of Nervous DiseasesDepartment of Internal Diseases, Professional Diseases and Rheumatology, I.M. Sechenov First Moscow State Medical University (Sechenov University), Ministry of Health of RussiaM.M. Krasnov Research Institute of Eye DiseasesRegional Consultative and Diagnostic CenterNational Center for Clinical Morphological DiagnosticsHereditary transthyretin amyloidosis belongs to a group of diseases with an autosomal dominant type of transmission and a heterogeneous clinical picture, which depends on the type of transthyretin gene mutation. The leptomeningeal form is a rare phenotypic variant of amyloidosis with a predominant involvement of brain and spinal cord meninges, as well as cortical meningeal vessels. The main manifestations of this phenotype include cephalalgic syndrome, episodes of acute cerebrovascular accident, hearing impairment, epileptic seizures, progressive cognitive impairment reaching the degree of dementia, impaired consciousness, etc. The article describes a clinical case of revealing of amyloidogenic mutation Ala45Thr with a hereditary family history and typical manifestations of leptomeningeal amyloidosis at the onset of the disease, as well as impaired renal function. Neuroimaging with contrast enhancement revealed a characteristic thickening of the meninges of the spinal cord due to the deposition of amyloid masses.https://nnp.ima-press.net/nnp/article/view/1923leptomeningeal amyloidosistransthyretin hereditary amyloidosismutation in the transthyretin gene |
| spellingShingle | E. I. Safiulina O. E. Zinovieva N. S. Shcheglova V. V. Rameev Z. V. Surnina E. N. Nikitina O. A. Vorobieva Leptomeningeal amyloidosis: features of the clinical picture (clinical observation) Неврология, нейропсихиатрия, психосоматика leptomeningeal amyloidosis transthyretin hereditary amyloidosis mutation in the transthyretin gene |
| title | Leptomeningeal amyloidosis: features of the clinical picture (clinical observation) |
| title_full | Leptomeningeal amyloidosis: features of the clinical picture (clinical observation) |
| title_fullStr | Leptomeningeal amyloidosis: features of the clinical picture (clinical observation) |
| title_full_unstemmed | Leptomeningeal amyloidosis: features of the clinical picture (clinical observation) |
| title_short | Leptomeningeal amyloidosis: features of the clinical picture (clinical observation) |
| title_sort | leptomeningeal amyloidosis features of the clinical picture clinical observation |
| topic | leptomeningeal amyloidosis transthyretin hereditary amyloidosis mutation in the transthyretin gene |
| url | https://nnp.ima-press.net/nnp/article/view/1923 |
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