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

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.