TITLE:
Neurofibromatosis Type 1 Revealed by Ophthalmologic Complications: A Report of One Case in Ouagadougou, Burkina Faso
AUTHORS:
Caroline Yonaba, Aichatou Djibo, Chantal Zoungrana, Angèle Kalmogho, Ousseine Diallo, Patrice Tapsoba, Noufounikoun Méda, Ludovic Kam
KEYWORDS:
Neurofibromatosis, Eye, Complications, Children, Burkina Faso
JOURNAL NAME:
Open Journal of Pediatrics,
Vol.5 No.4,
November
27,
2015
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.