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Neurofibromatosis Type 1 or Von Recklinghausen Disease: About Three Cases to the National Hospital of Niamey and Literature Review

DOI: 10.4236/ojim.2021.113013, PP. 175-187

Keywords: Von Recklinghausen Disease, NIH Criteria, Niger

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Abstract:

We report three cases of neurofibromatosis type 1 disease with literature review, collected in the department of neurology and internal medicine from National Hospital of Niamey (HNN). Two of them were men and the first signs were noted by the mother at the birth in 2 cases. Only one case of consanguinity was observed. Clinically, light brown spots on the skin, neurofibromas, Lisch nodules were constantly observed. Histopathological’s exam confirmed neurofibromas. Moreover, cutaneous and ophthalmological manifestations lead to the diagnostic. Two cases of orthopedic complications were observed: one scoliosis and one Congenital dysplasia of the long bones. There was no specific treatment. Neurofibromatosis type 1 or von Recklinghausen’s disease is the most frequent phacomatosis and its diagnosis is usually composed of a set of clinical criteria of the National Institute Health (Bethesda, 1988).

References

[1]  De Ribaupierre, S., Vernet, O., Vinchon, M. and Rilliet, B. (2008) Phacomatoses et tumeurs génétiquement determinées: La transition enfant-adulte. Neurochirurgie, 54, 642-653.
https://doi.org/10.1016/j.neuchi.2008.07.004
[2]  Dietemann, J.L. and Koob, M. (2014) Imagerie de la neurofibromatose type 1. EMC-Radiologie et Imagerie Médicale Musculosqueletique, Neurologique, Maxillofaciale, 1-13.
[3]  Vidaud, D., Levy, P., Laurendeau, I., Parfait, B., Bieche, I. and Vidaud, M. (2008) Approche moléculaire des MPNSTs dans la neurofibromatose de type 1: Vers l’identification de marqueurs diagnostiques et pronostiques. Archives de Pédiatrie, 15, 809-811.
https://doi.org/10.1016/S0929-693X(08)71921-3
[4]  Uusitalo, E., Rantanen, M., Kallionpää, R.A., Pöyhönen, M., Leppävirta, J., Ylä-Outinen, H., Riccardi, V.M., Pukkala, E., Pitkäniem, J., Peltonen, S., et al. (2016) Distinctive Cancer Associations in Patients with Neurofibromatosis Type 1. Journal of Clinical Oncology, 34, 1978-1986.
https://doi.org/10.1200/JCO.2015.65.3576
[5]  Evans, D.G., Baser, M.E., McGaughran, J., Sharif, S., Howard, E. and Moran, A. (2002) Malignant Peripheral Nerve Sheath Tumours in Neurofibromatosis 1. Journal of Medical Genetics, 39, 311-314.
https://doi.org/10.1136/jmg.39.5.311
[6]  Khosrotehrani, K., Bastuji-Garin, S., Riccardi, V.M., Birch, P., Friedman, J.M. and Wolkenstein, P. (2005) Subcutaneous Neurofibromas Are Associated with Mortality in Neurofibromatosis 1: A Cohort Study of 703 Patients. American Journal of Medical Genetics Part A, 132A, 49-53.
https://doi.org/10.1002/ajmg.a.30394
[7]  Ferner, R.E. and Gutmann, D.H. (2002) International Consensus Statement on Malignant Peripheral Nerve Sheath Tumors in Neurofibromatosis. Cancer Research, 62, 1573-1577.
[8]  Ducatman, B.S., Scheithauer, B.W., Piepgras, D.G., Reiman, H.M. and Ilstrup, D.M. (1986) Malignant Peripheral Nerve Sheath Tumors. A Clinicopathologic Study of 120 Cases. Cancer, 57, 2006-2021.
https://doi.org/10.1002/1097-0142(19860515)57:10<2006::AID-CNCR2820571022>3.0.CO;2-6
[9]  Evans, D.G., Huson, S.M. and Birch, J.M. (2012) Malignant Peripheral Nerve Sheath Tumours in Inherited Disease. Clinical Sarcoma Research, 2, Article No. 17.
https://doi.org/10.1186/2045-3329-2-17
[10]  Tucker, T., Wolkenstein, P., Revuz, J., Zeller, J. and Friedman, J.M. (2005) Association between Benign and Malignant Peripheral Nerve Sheath Tumors in NF1. Neurology, 65, 205-211.
https://doi.org/10.1212/01.wnl.0000168830.79997.13
[11]  King, A.A., Debaun, M.R., Riccardi, V.M. and Gutmann, D.H. (2000) Malignant Peripheral Nerve Sheath Tumors in Neurofibromatosis 1. American Journal of Medical Genetics, 93, 388-392.
[12]  Heerva, E., Koffert, A., Jokinen, E., Kuorilehto, T., Peltonen, S., Aro, H.T. and Peltonen, J. (2012) A Controlled Register-Based Study of 460 Neurofibromatosis 1 Patients: Increased Fracture Risk in Children and Adults over 41 Years of Age. Journal of Bone and Mineral Research, 27, 2333-2337.
https://doi.org/10.1002/jbmr.1685
[13]  Ferner, R.E. (2007) Neurofibromatosis 1. European Journal of Human Genetics, 15, 131-138.
https://doi.org/10.1038/sj.ejhg.5201676
[14]  Pinson, S. and Wolkenstein, P. (2005) La neurofibromatose 1 (NF1) ou maladie de Von Recklinghausen. La Revue de Médecine Interne, 26, 196-215.
https://doi.org/10.1016/j.revmed.2004.06.011
[15]  Odebode, B.S., Afolayan, E.A.O., Adigun, I.A. and Daramola, O.O.M. (2005) Clinicopathological Study of Neurobromatosis Type 1: An Experience in Nigeria. International Journal of Dermatologyy, 44, 116-120.
https://doi.org/10.1111/j.1365-4632.2005.02386.x
[16]  Bergqvist, C., Servy, A., Valeyrie-Allanore, L., Ferkal, S., Combemale, P. and Wolkenstein, P. (2020) Neurofibromatosis, French National Guidelines Based on an Extensive Literature Review Since 1966. Orphanet Journal of Rare Diseases, 15, Article No. 37.
https://doi.org/10.1186/s13023-020-1310-3
[17]  Onunu, A.N. and Lawal, N.A. (2002) Neurofibromatosis 1: A Clinical Study in the Nigerian African. Annals of Biomedical Science, 1, 118-123.
https://doi.org/10.4314/abs.v1i2.40631
[18]  Hernández-Martín, A. and Duat-Rodríguez, A. (2016) An Update on Neurofibroma tosis Type 1: Not Just Café-au-Lait Spots, Freckling, and Neurofibromas. An Update. Part I. Dermatological Clinical Criteria Diagnostic of the Disease. Actas Dermo-Sifiliográficas, 107, 454-464.
https://doi.org/10.1016/j.ad.2016.01.004
[19]  Jadayel, D., Fain, P., Upadhyaya, M., Ponder, M.A., Huson, S.M., Carey, J., et al. (1990) Paternal Origin of New Mutations in von Recklinghausen Neurofibromatosis. Journal of Natural Medicines, 343, 558-559.
https://doi.org/10.1038/343558a0
[20]  Shen, M.H., Harper, P.S. and Upadhyaya, M. (1996) Molecular Genetics of Neuro-fibromatosis Type 1 (NF1). Journal of Medical Genetics, 33, 2-17.
https://doi.org/10.1136/jmg.33.1.2
[21]  Ars, E., Serra, E., Garcia, J., Kruyer, H., Gaona, A., Lazaro, C., et al. (2000) Mutations Affecting mRNA Splicing Are the Most Common Molecular Defects in Patients with Neurofibromatosis Type 1. Human Molecular Genetics, 9, 237-247.
https://doi.org/10.1093/hmg/9.2.237
[22]  Friedman, J.M. and Birch, P.H. (1997) Type 1 Neurofibromatosis: A Descriptive Analysis of the Disorder in 1728 Patients. American Journal of Medical Genetics, 70, 138-143.
https://doi.org/10.1002/(SICI)1096-8628(19970516)70:2<138::AID-AJMG7>3.0.CO;2-U
[23]  Madhaw, G., Samanta, R., Kumari, S. Radhakrishnan, D.M., Shree, R. and Kumar, N. (2019) Lisch Nodules—Ophtalmologique Marker of Neurofibroma 1. QJM: An International Journal of Medicine, 112, 934-935.
https://doi.org/10.1093/qjmed/hcz098
[24]  Mammad, C., Mekaoui, N., Ouadghiri, F., Mammad, K. and Dakhama, B. (2017) Neurofibromatosis Type 1 in Four Children Cases. Neuroscience and Medicine, 8, 33-40.
https://doi.org/10.4236/nm.2017.83005
[25]  Riccardi, V.M. (2000) Von Recklinghausen Neurofibromatosis. The New England Journal of Medicine, 305, 1617-1627.
https://doi.org/10.1056/NEJM198112313052704
[26]  Zoller, M.E., Rembeck, B. and Akesson, H.O. (1995) Life Expectancy, Mortality and Prognostic Factors in Neurofibromatosis Type 1. A Twelve-Year Follow-Up of an Epidemiological Study in Goteborg, Sweden. Acta Dermato-Venereologica, 75, 136-140.
[27]  Duong, T., Sbidian, E., Valeyrie-Allanore, L., Vialette, C., Ferkal, S., Hadj-Rabia, S., et al. (2011) Mortality Associated with Neurofibromatosis 1: A Cohort Study of 1895 Patients in 1980-2006 in France. Orphanet Journal of Rare Diseases, 6, 1750-1763.
https://doi.org/10.1186/1750-1172-6-18
[28]  Danglot, G. and Fauvet, D. (1995) Neurofibromatosis 1 (NF1) mRNAs Expressed in the Central Nervous System Are Differently Spliced in the 5’ Part of the Gene. Human Molecular Genetics, 300, 256-258.
https://doi.org/10.1093/hmg/4.5.915
[29]  Hagel, C., Peiper, M., Kluwe, L., Gotthard, S. and Friedrich, R.E. (2007) Histopathology and Clinical Outcome of NF1-Associated vs. Sporadic Malignant Peripheral Nerve Sheath Tumors. Journal of Neuro-Oncology, 82, 187-192.
https://doi.org/10.1007/s11060-006-9266-2
[30]  Pasmant, E., Laurendeau, I., Sabbagh, A., Parfait, B., Vidaud, M., Vidaud, D., et al. (2010) ANRIL ou l’étrange histoire d’un grand ARN non codant. Médecine/Sciences, 26, 564-566.
https://doi.org/10.1051/medsci/2010266-7564
[31]  Friedrich, R.E. and Mautner, V.F. (2007) Malignant Peripheral Nerve Sheath Tumors (MPNST) in NF1-Affected Children. Anticancer Research, 27, 1957-1960.
[32]  Eyenga, V., Eloundou, J., Ngowe, N., Atangana, R. and Sosso, M. (2008) Neurinomes et neurofibromes spinaux diagnostic et resultats du traitement chirurgical a Yaoundé. African Journal of Neurological Sciences, 27, 95-100.
[33]  Benbelkacem, H. (2017) Prise en charge chirurgicale des manifestations faciales de la neurofibromatose type 1 ou maladie de Von Recklinghaussen: Nouvelles perspectives. Thèse de doctorat en sciences médicales, Université de Rabbat, Rabbat.

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