Share This Article:

Neurofibromatosis Type 1 Revealed by Ophthalmologic Complications: A Report of One Case in Ouagadougou, Burkina Faso

Abstract Full-Text HTML XML Download Download as PDF (Size:438KB) PP. 290-295
DOI: 10.4236/ojped.2015.54044    3,616 Downloads   3,987 Views   Citations

ABSTRACT

Type 1 neurofibromatosis is an inherited multisystem neurocutaneous disease predisposing to tumors development. Serious skin and ophthalmologic complications, although rare, can occur throughout life. Furthermore in children, unawareness of early symptoms may delay diagnosis. We report the case of A.T. 8 years old, admitted for exophthalmosis and facial deformity dating back to the age of 2 years. The diagnosis of neurofibromatosis was suspected in the presence of light brown skin spots scattered all over the body and subcutaneous nodules. Ophthalmologic examination revealed bilateral exophthalmosis, eyelids neurofibromas, blepharoptosis, Lisch nodules, corneal edema, and optic atrophy. Head CT scan clarified the nature and the extent of ophthalmologic lesions. Treatment was symptomatic. Neurofibromatosis is rarely reported in children in our setting; it is probably under diagnosed. Clinicians should think of this diagnosis in presence of certain specific symptoms and make a clinical assessment.

Conflicts of Interest

The authors declare no conflicts of interest.

Cite this paper

Yonaba, C. , Djibo, A. , Zoungrana, C. , Kalmogho, A. , Diallo, O. , Tapsoba, P. , Méda, N. and Kam, L. (2015) Neurofibromatosis Type 1 Revealed by Ophthalmologic Complications: A Report of One Case in Ouagadougou, Burkina Faso. Open Journal of Pediatrics, 5, 290-295. doi: 10.4236/ojped.2015.54044.

References

[1] Allanore, L. and Wolkenstein, P. (2009) Neurofibromatosis in Dermatology and Sexual Transmitted Diseases. 5ème édition, Masson, Paris, 485-488.
[2] Wolkenstein, P., Zeller, J. and Ismaili, N. (2002) Neurofibromatosis. Encyclopédie Médico-Chirurgicale, Paris Editions Scientifiques et Médicales Elsevier SAS Dermatologie Pédiatrie, 4-092-C-10, 98-755-A-10, Elsevier SAS, Paris, 10.
[3] Pinson, S., Créange, A. and Barbarot, S. (2002) Recommandations for the Management of Type 1 Neurifibromatosis. Journal Francais d’Ophtalmologie, 25, 423-433.
[4] Wolkenstein, P. (2005) Neurofibromatosis and Bourneville’s Tuberous Sclerosis. Journal of Neuroradiology, 32, 174-179.
[5] Ferner, R. (2010) The Neurofibromatosis. Practical Neurology, 10, 82-93.
http://dx.doi.org/10.1136/jnnp.2010.206532
[6] Bonnemaison, E., Roze-Abert, B., Lorette, G., Sirinelli, D., Boscq, S., Mazjoub, M., et al. (2006) Type 1 Neurofibromatosis in Children: A Report of 100 Cases. Archives de Pédiatrie, 13, 1009-1014.
http://dx.doi.org/10.1016/j.arcped.2006.03.149
[7] Fany, A. and Gbe, K. (2002) Isolated Palpebral Tumor Revealing Von Recklinghausen’s Neurofibromatosis: A Case Report. Journal Francais d’Ophtalmologie, 8, 822-825.
[8] Altan-Yayciogl, R. and Hintschich, C. (2010) Clinical Features and Surgical Management of Orbitotemporal Neurofibromatosis: A Retrospective Interventional Case Series. Orbit, 29, 232-238.
http://dx.doi.org/10.3109/01676831003660689
[9] Khairallah, M., Messaoud, R., Ladjimi, A., Hmisdi, K. and Chaouch, K. (1999) Association of Spheno-Orbital Dysplasia with Plexiform Neuroma in von Recklinghausen’s Neurofibromatosis. Journal Francais d’Ophtalmologie, 22, 975-978.
[10] Farris, S.R. and Grove Jr., A.S. (1996) Orbital and Eyelid Manifestations of Neurofibromatosis: A Clinical Study and Literature Review. Ophthalmic Plastic & Reconstructive Surgery, 12, 245-59.
http://dx.doi.org/10.1097/00002341-199612000-00006
[11] Gotzamanis, A., Ducasse, A., Niederlender, P., et al. (2000) Unilateral Exophthalmos Is Revealing Agenesia of the Greater Wing of the Sphenoid. Journal Francais d O’phtalmologie, 7, 683-687.
[12] Abouchadi, A., Nassih, M., Rzin, A. and Elgbouri, H. (2005) Orbito-Temporal Plexiform Neurofibroma: 6 Cases. Revue de Stomatologie et de Chirurgie Maxillo-faciale, 106, 272-275.
[13] Boulanger, J.M. and Larbrisseau, A. (2005) Neurofibromatosis Type 1 in Pediatric Population/Ste-Justine’s Experience. Canadian Journal of Neurological Sciences, 32, 225-231.
http://dx.doi.org/10.1017/S0317167100004017
[14] Mejdoubi, M., Arne, J.L. and Sevely, A. (2007) Orbital Tumors in Children: CT and MR Imaging Features. Journal de Radiologie, 88, 1855-1864.
http://dx.doi.org/10.1016/S0221-0363(07)78363-4
[15] Chateil, J.F., Brun, M., Le Manh, C., Diard, F. and Labrèze, C. (2000) Phacomatosis in Children. Encyclopédie Médico-Chirurgicale, 4-092-B-10.54, Elsevier SAS, Paris.
[16] Bahuau, M., Vidaud, M. and Vidaud, D. (1997) Neurofibromatosis: Genetics and Molecular Physiopathology of NF1. Médecine Thérapeutique, 8, 623-628.
[17] Huson, S.M., Compston, D.A., Clark, P. and Harper, P.S. (1989) A Genetic Study of von Recklinghausen Neurofibromatosis in South East Wales. I. Prevalence, Fitness, Mutation Rate, and Effect of Parental Transmission on Severity. Journal of Medical Genetics, 26, 704-711.
http://dx.doi.org/10.1136/jmg.26.11.704

  
comments powered by Disqus

Copyright © 2019 by authors and Scientific Research Publishing Inc.

Creative Commons License

This work and the related PDF file are licensed under a Creative Commons Attribution 4.0 International License.