Charcot-Marie-Tooth disease and dilated cardiomyopathy. A rare combination.
<p>The case of a 50 years old male patient is presented. Along 14 years of clinical evolution, four limbs musculoskeletal disorders with atrophy of the thenar and hypothenar prominences and muscles of both legs had been emphasized. The presence of sensory impairment in lower limbs with stockin...
| Main Authors: | , , |
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| Format: | Article |
| Language: | Spanish |
| Published: |
Centro Provincial de Información de Ciencias Médicas. Cienfuegos
2011-07-01
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| Series: | Medisur |
| Subjects: | |
| Online Access: | http://medisur.sld.cu/index.php/medisur/article/view/1517 |
| _version_ | 1826846828983746560 |
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| author | Rafael Pila Pérez Víctor Adolfo Holguín Prieto Leandro Segura Pujol |
| author_facet | Rafael Pila Pérez Víctor Adolfo Holguín Prieto Leandro Segura Pujol |
| author_sort | Rafael Pila Pérez |
| collection | DOAJ |
| description | <p>The case of a 50 years old male patient is presented. Along 14 years of clinical evolution, four limbs musculoskeletal disorders with atrophy of the thenar and hypothenar prominences and muscles of both legs had been emphasized. The presence of sensory impairment in lower limbs with stocking distribution, atrophy, weakness, areflexia and equine gait were very peculiar in this case. From the cardiac point of view, the patient presented a fibrillation/flutter. Chest radiography showed a marked increase in the cardiac area and echocardiography revealed dilated cardiomyopathy. Histopathological examination confirmed the presence of Charcot-Marie-Tooth disease associated with dilated cardiomyopathy. While genetic studies are still lacking, diagnosis was based on clinical features, motor conduction velocity and histopathologic examination showing onion like demyelinating lesions. Charcot-Marie-Tooth is a rare disease. Approximately 60% of patients who suffer from it carry chromosome 17 duplication, which is why it has been considered very appropriate to convey the experience of this case.</p> |
| first_indexed | 2024-03-07T15:56:45Z |
| format | Article |
| id | doaj.art-018eee80a81b468fb8a1835a77a39a53 |
| institution | Directory Open Access Journal |
| issn | 1727-897X |
| language | Spanish |
| last_indexed | 2025-02-16T15:09:32Z |
| publishDate | 2011-07-01 |
| publisher | Centro Provincial de Información de Ciencias Médicas. Cienfuegos |
| record_format | Article |
| series | Medisur |
| spelling | doaj.art-018eee80a81b468fb8a1835a77a39a532025-01-30T21:28:44ZspaCentro Provincial de Información de Ciencias Médicas. CienfuegosMedisur1727-897X2011-07-0193286294735Charcot-Marie-Tooth disease and dilated cardiomyopathy. A rare combination.Rafael Pila Pérez0Víctor Adolfo Holguín Prieto1Leandro Segura Pujol2Hospital Universitario “Manuel Ascunce Domenech”Hospital Universitario “Manuel Ascunce Domenech”Hospital Universitario “Manuel Ascunce Domenech”<p>The case of a 50 years old male patient is presented. Along 14 years of clinical evolution, four limbs musculoskeletal disorders with atrophy of the thenar and hypothenar prominences and muscles of both legs had been emphasized. The presence of sensory impairment in lower limbs with stocking distribution, atrophy, weakness, areflexia and equine gait were very peculiar in this case. From the cardiac point of view, the patient presented a fibrillation/flutter. Chest radiography showed a marked increase in the cardiac area and echocardiography revealed dilated cardiomyopathy. Histopathological examination confirmed the presence of Charcot-Marie-Tooth disease associated with dilated cardiomyopathy. While genetic studies are still lacking, diagnosis was based on clinical features, motor conduction velocity and histopathologic examination showing onion like demyelinating lesions. Charcot-Marie-Tooth is a rare disease. Approximately 60% of patients who suffer from it carry chromosome 17 duplication, which is why it has been considered very appropriate to convey the experience of this case.</p>http://medisur.sld.cu/index.php/medisur/article/view/1517enfermedad de charcot-marie-toothcardiomiopatía dilatadaenfermedades musculares |
| spellingShingle | Rafael Pila Pérez Víctor Adolfo Holguín Prieto Leandro Segura Pujol Charcot-Marie-Tooth disease and dilated cardiomyopathy. A rare combination. Medisur enfermedad de charcot-marie-tooth cardiomiopatía dilatada enfermedades musculares |
| title | Charcot-Marie-Tooth disease and dilated cardiomyopathy. A rare combination. |
| title_full | Charcot-Marie-Tooth disease and dilated cardiomyopathy. A rare combination. |
| title_fullStr | Charcot-Marie-Tooth disease and dilated cardiomyopathy. A rare combination. |
| title_full_unstemmed | Charcot-Marie-Tooth disease and dilated cardiomyopathy. A rare combination. |
| title_short | Charcot-Marie-Tooth disease and dilated cardiomyopathy. A rare combination. |
| title_sort | charcot marie tooth disease and dilated cardiomyopathy a rare combination |
| topic | enfermedad de charcot-marie-tooth cardiomiopatía dilatada enfermedades musculares |
| url | http://medisur.sld.cu/index.php/medisur/article/view/1517 |
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