Tuberous sclerosis identified by ophthalmologic evaluation
Introduction: tuberous sclerosis or Bourneville-Pringle disease is a neurocutaneous, autosomal dominant disease. It is characterized by benign tumors called hamartomas, which are usually found inside the brain, the retina and can affect multiple organs. Case report: a 23-year-old patient with a his...
| Main Authors: | , , |
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| Format: | Article |
| Language: | Spanish |
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ECIMED
2018-09-01
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| Series: | Revista de Ciencias Médicas de Pinar del Río |
| Subjects: | |
| Online Access: | http://www.revcmpinar.sld.cu/index.php/publicaciones/article/view/3481 |
| _version_ | 1819057102113472512 |
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| author | Abel Fortún Campo Aimara Beades Martínez Pedro Acosta Candelaria |
| author_facet | Abel Fortún Campo Aimara Beades Martínez Pedro Acosta Candelaria |
| author_sort | Abel Fortún Campo |
| collection | DOAJ |
| description | Introduction: tuberous sclerosis or Bourneville-Pringle disease is a neurocutaneous, autosomal dominant disease. It is characterized by benign tumors called hamartomas, which are usually found inside the brain, the retina and can affect multiple organs.
Case report: a 23-year-old patient with a history of epilepsy since childhood associated with papular lesions on the face and lumbosacral region, as well as hypopigmented areas on the skin, who attended the ophthalmology service due to a decrease in visual acuity in the right eye; images of pearly white appearance were found in both eyes , with ill-defined edges, located in the thickness of layers of the retina nerve fibers and normal campimetric study; the presence of cortical astrocytomas was proved in nuclear magnetic resonance.
Conclusions: the diagnosis of tuberous sclerosis is confirmed, justified by the presence of major criteria such as facial angiofibromas, gingival fibromas and cortical astrocytoma, as well as minor criteria such as retinal acne and intraoral fibromas plus the results obtained in nuclear magnetic resonance. The diagnosis made was based on the ophthalmological assessment of the patient. |
| first_indexed | 2024-12-21T13:33:58Z |
| format | Article |
| id | doaj.art-4fa557f5d4f54050ae26d5fc401ab3c1 |
| institution | Directory Open Access Journal |
| issn | 1561-3194 |
| language | Spanish |
| last_indexed | 2024-12-21T13:33:58Z |
| publishDate | 2018-09-01 |
| publisher | ECIMED |
| record_format | Article |
| series | Revista de Ciencias Médicas de Pinar del Río |
| spelling | doaj.art-4fa557f5d4f54050ae26d5fc401ab3c12022-12-21T19:02:13ZspaECIMEDRevista de Ciencias Médicas de Pinar del Río1561-31942018-09-012259819861684Tuberous sclerosis identified by ophthalmologic evaluationAbel Fortún Campo0Aimara Beades Martínez1Pedro Acosta Candelaria2. Hospital General Docente Abel Santamaría. Pinar del Río, Cuba.Hospital General Docente Abel Santamaría. Pinar del Río, Cuba.Hospital General Docente Abel Santamaría..Pinar del Río, Cuba.Introduction: tuberous sclerosis or Bourneville-Pringle disease is a neurocutaneous, autosomal dominant disease. It is characterized by benign tumors called hamartomas, which are usually found inside the brain, the retina and can affect multiple organs. Case report: a 23-year-old patient with a history of epilepsy since childhood associated with papular lesions on the face and lumbosacral region, as well as hypopigmented areas on the skin, who attended the ophthalmology service due to a decrease in visual acuity in the right eye; images of pearly white appearance were found in both eyes , with ill-defined edges, located in the thickness of layers of the retina nerve fibers and normal campimetric study; the presence of cortical astrocytomas was proved in nuclear magnetic resonance. Conclusions: the diagnosis of tuberous sclerosis is confirmed, justified by the presence of major criteria such as facial angiofibromas, gingival fibromas and cortical astrocytoma, as well as minor criteria such as retinal acne and intraoral fibromas plus the results obtained in nuclear magnetic resonance. The diagnosis made was based on the ophthalmological assessment of the patient.http://www.revcmpinar.sld.cu/index.php/publicaciones/article/view/3481ESCLEROSIS TUBEROSAEPILEPSIAASTROCITOMAPACIENTES. |
| spellingShingle | Abel Fortún Campo Aimara Beades Martínez Pedro Acosta Candelaria Tuberous sclerosis identified by ophthalmologic evaluation Revista de Ciencias Médicas de Pinar del Río ESCLEROSIS TUBEROSA EPILEPSIA ASTROCITOMA PACIENTES. |
| title | Tuberous sclerosis identified by ophthalmologic evaluation |
| title_full | Tuberous sclerosis identified by ophthalmologic evaluation |
| title_fullStr | Tuberous sclerosis identified by ophthalmologic evaluation |
| title_full_unstemmed | Tuberous sclerosis identified by ophthalmologic evaluation |
| title_short | Tuberous sclerosis identified by ophthalmologic evaluation |
| title_sort | tuberous sclerosis identified by ophthalmologic evaluation |
| topic | ESCLEROSIS TUBEROSA EPILEPSIA ASTROCITOMA PACIENTES. |
| url | http://www.revcmpinar.sld.cu/index.php/publicaciones/article/view/3481 |
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