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

OgunrinA Olubunmi
2010 Annals of African Medicine  
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
more » ... s 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.
doi:10.4103/1596-3519.64754 pmid:20587932 fatcat:2g7oachbkzfyvc3cufwukj7aba