Misdiagnosis of tuberous sclerosis in a Nigerian girl: a case report and review of literature.
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.
Olubunmi
Ogunrin A
OA
University of Benin Teaching Hospital, Benin City, Nigeria. bunmifunmi@hotmail.com
D000293:Adolescent; D018322:Angiofibroma / Q000175:diagnosis; D000927:Anticonvulsants / Q000627:therapeutic use; D001921:Brain / Q000000981:diagnostic imaging*; D002114:Calcinosis / Q000000981:diagnostic imaging*; D003951:Diagnostic Errors; D004827:Epilepsy / Q000188:drug therapy / Q000209:etiology; D005260:Female; D006801:Humans; D008607:Intellectual Disability / Q000209:etiology; D017253:Neurofibromatoses / Q000175:diagnosis; D012878:Skin Neoplasms / Q000175:diagnosis; D014057:Tomography, X-Ray Computed; D016896:Treatment Outcome; D014402:Tuberous Sclerosis / Q000000981:diagnostic imaging* / Q000235:genetics; D014635:Valproic Acid / Q000627:therapeutic use
D000927:Anticonvulsants; D014635:Valproic Acid