| Misdiagnosis of tuberous sclerosis in a Nigerian girl: a case report and review of literature. | |
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MedLine Citation:
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PMID: 20587932 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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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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Authors:
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Ogunrin A Olubunmi |
Publication Detail:
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Type: Case Reports; Journal Article; Review |
Journal Detail:
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Title: Annals of African medicine Volume: 9 ISSN: 0975-5764 ISO Abbreviation: Ann Afr Med Publication Date: 2010 Apr-Jun |
Date Detail:
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Created Date: 2010-06-30 Completed Date: 2010-10-06 Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 101231417 Medline TA: Ann Afr Med Country: Nigeria |
Other Details:
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Languages: eng Pagination: 95-101 Citation Subset: IM |
Affiliation:
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University of Benin Teaching Hospital, Benin City, Nigeria. bunmifunmi@hotmail.com |
Export Citation:
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APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
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Adolescent Angiofibroma / diagnosis Anticonvulsants / therapeutic use Brain / radiography* Calcinosis / radiography* Diagnostic Errors Epilepsy / drug therapy, etiology Female Humans Mental Retardation / etiology Neurofibromatoses / diagnosis Skin Neoplasms / diagnosis Tomography, X-Ray Computed Treatment Outcome Tuberous Sclerosis / genetics, radiography* Valproic Acid / therapeutic use |
| Chemical | |
Reg. No./Substance:
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0/Anticonvulsants; 99-66-1/Valproic Acid |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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