Neurofibromatosis type 1 or Von Recklinghausen's disease. A case report
Neurofibromatosis type I or Von Recklinghausen's disease is one of the genetic diseases that affect the nervous system, named for its common embryonic origin. It is an autosomal dominant, progressive disease with an unpredictable course that affects the skin and the central and peripheral nervo...
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| Language: | Spanish |
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Centro Provincial de Información de Ciencias Médicas. Cienfuegos
2023-05-01
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| Series: | Medisur |
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| Online Access: | http://medisur.sld.cu/index.php/medisur/article/view/5630 |
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| author | Marisleidy Denis Rodríguez Miguel Alejandro Pulido Gutiérrez Thaimi Conde Cueto Luis Omar López Hurtado |
| author_facet | Marisleidy Denis Rodríguez Miguel Alejandro Pulido Gutiérrez Thaimi Conde Cueto Luis Omar López Hurtado |
| author_sort | Marisleidy Denis Rodríguez |
| collection | DOAJ |
| description | Neurofibromatosis type I or Von Recklinghausen's disease is one of the genetic diseases that affect the nervous system, named for its common embryonic origin. It is an autosomal dominant, progressive disease with an unpredictable course that affects the skin and the central and peripheral nervous system. The case of a seven-year-old female schoolchild who was admitted to the Paquito Gonzáles Cueto Pediatric Hospital due to the presence of several "coffee-with-milk" spots on her skin is presented. The presence of type 1 neurofibromatosis in her maternal grandmother and great-grandmother, the latter already deceased from said cause, was collected as a family history. On physical examination, Lisch nodules were found in the thickness of the iris of the left eye. Imaging studies revealed several hyperintense nodular lesions on T2 and FLAIR, at the level of the internal and external bilateral and left ventricular capsule, the largest measuring 20 x 11 mm, as well as a hypointense image at the level of the left optic nerve, measuring 7 mm. It was diagnosed as neurofibromatosis type I. Because it is one of the least studied diseases in our environment, it was decided to publish this case. |
| format | Article |
| id | doaj-art-f250c8763dab4e9ca3cd51e49472cbe6 |
| institution | Kabale University |
| issn | 1727-897X |
| language | Spanish |
| publishDate | 2023-05-01 |
| publisher | Centro Provincial de Información de Ciencias Médicas. Cienfuegos |
| record_format | Article |
| series | Medisur |
| spelling | doaj-art-f250c8763dab4e9ca3cd51e49472cbe62025-01-30T21:29:00ZspaCentro Provincial de Información de Ciencias Médicas. CienfuegosMedisur1727-897X2023-05-012136836892285Neurofibromatosis type 1 or Von Recklinghausen's disease. A case reportMarisleidy Denis Rodríguez0Miguel Alejandro Pulido Gutiérrez1Thaimi Conde Cueto2Luis Omar López Hurtado3Hospital Pediátrico Universitario Paquito González Cueto. Cienfuegos, Cuba.Hospital Pediátrico Universitario Paquito González Cueto. Cienfuegos, Cuba.Hospital Pediátrico Universitario Paquito González Cueto. Cienfuegos, Cuba.Hospital Pediátrico Universitario Paquito González Cueto. Cienfuegos, Cuba.Neurofibromatosis type I or Von Recklinghausen's disease is one of the genetic diseases that affect the nervous system, named for its common embryonic origin. It is an autosomal dominant, progressive disease with an unpredictable course that affects the skin and the central and peripheral nervous system. The case of a seven-year-old female schoolchild who was admitted to the Paquito Gonzáles Cueto Pediatric Hospital due to the presence of several "coffee-with-milk" spots on her skin is presented. The presence of type 1 neurofibromatosis in her maternal grandmother and great-grandmother, the latter already deceased from said cause, was collected as a family history. On physical examination, Lisch nodules were found in the thickness of the iris of the left eye. Imaging studies revealed several hyperintense nodular lesions on T2 and FLAIR, at the level of the internal and external bilateral and left ventricular capsule, the largest measuring 20 x 11 mm, as well as a hypointense image at the level of the left optic nerve, measuring 7 mm. It was diagnosed as neurofibromatosis type I. Because it is one of the least studied diseases in our environment, it was decided to publish this case.http://medisur.sld.cu/index.php/medisur/article/view/5630neurofibromatosis 1, enfermedad genética |
| spellingShingle | Marisleidy Denis Rodríguez Miguel Alejandro Pulido Gutiérrez Thaimi Conde Cueto Luis Omar López Hurtado Neurofibromatosis type 1 or Von Recklinghausen's disease. A case report Medisur neurofibromatosis 1, enfermedad genética |
| title | Neurofibromatosis type 1 or Von Recklinghausen's disease. A case report |
| title_full | Neurofibromatosis type 1 or Von Recklinghausen's disease. A case report |
| title_fullStr | Neurofibromatosis type 1 or Von Recklinghausen's disease. A case report |
| title_full_unstemmed | Neurofibromatosis type 1 or Von Recklinghausen's disease. A case report |
| title_short | Neurofibromatosis type 1 or Von Recklinghausen's disease. A case report |
| title_sort | neurofibromatosis type 1 or von recklinghausen s disease a case report |
| topic | neurofibromatosis 1, enfermedad genética |
| url | http://medisur.sld.cu/index.php/medisur/article/view/5630 |
| work_keys_str_mv | AT marisleidydenisrodriguez neurofibromatosistype1orvonrecklinghausensdiseaseacasereport AT miguelalejandropulidogutierrez neurofibromatosistype1orvonrecklinghausensdiseaseacasereport AT thaimicondecueto neurofibromatosistype1orvonrecklinghausensdiseaseacasereport AT luisomarlopezhurtado neurofibromatosistype1orvonrecklinghausensdiseaseacasereport |