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Misdiagnosis of tuberous sclerosis in a Nigerian girl: A case report and review of literature

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Author(s): Olubunmi Ogunrin

Journal: Annals of African Medicine
ISSN 1596-3519

Volume: 9;
Issue: 2;
Start page: 95;
Date: 2010;
Original page

Keywords: Facial angiofibroma | Nigerian | tuberous sclerosis | shagreen patch

ABSTRACT
Tuberous sclerosis is a rare neuro-cutaneous syndrome, one of the phakomatosis, characterized by facial angiofibromas (adenoma sebaceum), mental retardation and epilepsy. This classic triad occurs in less than one half of patients, probably in one-third, thus requiring a high index of suspicion to diagnose. Consequently it may easily be misdiagnosed as neurofibromatosis or other medical conditions. This is a case report of tuberous sclerosis in a 13-year-old Nigerian girl that was misdiagnosed as neurofibromatosis because of her cutaneous lesions. This paper discussed the case and reviewed the literature. A comprehensive medical clerkship, thorough physical examination, high index of clinical suspicion and neuroimaging investigations are required to confirm diagnosis.
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