Tuberous sclerosis, a case report
Introduction: tuberous sclerosis is a chronic multisystem disorder with an autosomal dominant inheritance pattern, where the severity of symptoms and complications determine the prognosis in these patients.Case report: three-year-old, white skin female patient, who went to the on-call department of...
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| Format: | Article |
| Language: | English |
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Universidad de Ciencias Médicas de Pinar del Río
2020-08-01
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| Series: | Universidad Médica Pinareña |
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| Online Access: | http://revgaleno.sld.cu/index.php/ump/article/view/586 |
| _version_ | 1797760261792202752 |
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| author | Elys María Pedraza-Rodríguez Victor Ernesto González-Velázquez Daniella Alejandra Villar-Gacives Yamilé Alba-Pacheco |
| author_facet | Elys María Pedraza-Rodríguez Victor Ernesto González-Velázquez Daniella Alejandra Villar-Gacives Yamilé Alba-Pacheco |
| author_sort | Elys María Pedraza-Rodríguez |
| collection | DOAJ |
| description | Introduction: tuberous sclerosis is a chronic multisystem disorder with an autosomal dominant inheritance pattern, where the severity of symptoms and complications determine the prognosis in these patients.Case report: three-year-old, white skin female patient, who went to the on-call department of Jose Luis Miranda Provincial Pediatric Hospital because, according to her mother, she presented inattention and headaches. Questioning, physical examination and complementary tests were performed. Although the tests did not show any abnormality, a neurocutaneous syndrome (tuberous sclerosis) may be suspected in this patient. She is currently under periodic monitoring by the Neuropediatrics, Cardiology, Dermatology and Ophthalmology services.Conclusions: tuberous sclerosis is a neurocutaneous syndrome with systemic repercussions. Sometimes dermatologic lesions are the earliest form of presentation of the disease. Correct physical examination of the skin is necessary to reach a timely diagnosis of neurocutaneous syndromes. Because of its variation between subjects, mastery of the major and minor criteria is a requirement. |
| first_indexed | 2024-03-12T18:56:05Z |
| format | Article |
| id | doaj.art-0e1eff57ae59439b8f38bc30c8365361 |
| institution | Directory Open Access Journal |
| issn | 1990-7990 |
| language | English |
| last_indexed | 2024-03-12T18:56:05Z |
| publishDate | 2020-08-01 |
| publisher | Universidad de Ciencias Médicas de Pinar del Río |
| record_format | Article |
| series | Universidad Médica Pinareña |
| spelling | doaj.art-0e1eff57ae59439b8f38bc30c83653612023-08-02T06:52:59ZengUniversidad de Ciencias Médicas de Pinar del RíoUniversidad Médica Pinareña1990-79902020-08-01172e586e586514Tuberous sclerosis, a case reportElys María Pedraza-Rodríguez0Victor Ernesto González-Velázquez1Daniella Alejandra Villar-Gacives2Yamilé Alba-Pacheco3Universidad de Ciencias Médicas de Villa Clara. Facultad de Medicina. Villa ClaraUniversidad de Ciencias Médicas de Villa Clara. Facultad de Medicina. Villa ClaraUniversidad de Ciencias Médicas de Villa Clara. Facultad de Medicina. Villa ClaraUniversidad de Ciencias Médicas de Villa Clara. Hospital Pediátrico Universitario “José Luis Miranda”. Villa ClaraIntroduction: tuberous sclerosis is a chronic multisystem disorder with an autosomal dominant inheritance pattern, where the severity of symptoms and complications determine the prognosis in these patients.Case report: three-year-old, white skin female patient, who went to the on-call department of Jose Luis Miranda Provincial Pediatric Hospital because, according to her mother, she presented inattention and headaches. Questioning, physical examination and complementary tests were performed. Although the tests did not show any abnormality, a neurocutaneous syndrome (tuberous sclerosis) may be suspected in this patient. She is currently under periodic monitoring by the Neuropediatrics, Cardiology, Dermatology and Ophthalmology services.Conclusions: tuberous sclerosis is a neurocutaneous syndrome with systemic repercussions. Sometimes dermatologic lesions are the earliest form of presentation of the disease. Correct physical examination of the skin is necessary to reach a timely diagnosis of neurocutaneous syndromes. Because of its variation between subjects, mastery of the major and minor criteria is a requirement.http://revgaleno.sld.cu/index.php/ump/article/view/586esclerosis tuberosasíndromes neurocutáneostrastornos heredodegenerativos del sistema nervioso. |
| spellingShingle | Elys María Pedraza-Rodríguez Victor Ernesto González-Velázquez Daniella Alejandra Villar-Gacives Yamilé Alba-Pacheco Tuberous sclerosis, a case report Universidad Médica Pinareña esclerosis tuberosa síndromes neurocutáneos trastornos heredodegenerativos del sistema nervioso. |
| title | Tuberous sclerosis, a case report |
| title_full | Tuberous sclerosis, a case report |
| title_fullStr | Tuberous sclerosis, a case report |
| title_full_unstemmed | Tuberous sclerosis, a case report |
| title_short | Tuberous sclerosis, a case report |
| title_sort | tuberous sclerosis a case report |
| topic | esclerosis tuberosa síndromes neurocutáneos trastornos heredodegenerativos del sistema nervioso. |
| url | http://revgaleno.sld.cu/index.php/ump/article/view/586 |
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