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Rwanda Medical Journal
Rwanda Health Communication Center - Rwanda Biomedical Center (RHCC - RBC)
ISSN: 2079-097X(print); 2410-8626(online)
Vol. 72, No. 3, 2015, pp. 23-24
Bioline Code: rw15015
Full paper language: English
Document type: Case Report
Document available free of charge

Rwanda Medical Journal, Vol. 72, No. 3, 2015, pp. 23-24

 en Usher’s syndrome and Von Recklinghausen’s neurofibromatosis association: Case Report
Atipo-Tsiba, P.W. & Itiere Odzili, F.A.

Abstract

The probability that the same person suffers from Usher’s syndrome and Von Recklinghausen’s neurofibromatosis is exceptional. This observation was intended to describe the coexistence of these two diseases in a patient born to a consanguineous union. A 40-year-old from Mauritania consulted our department for bilateral blindness. Its review noted an absence of light perception, retinitis pigmentosa typical lesions, bilateral deafness without vestibular damage and neurofibromas covering the entire body surface. Rare genetic diseases can be the result of a mutation. However, inbreeding increases the risk of their occurrence. This practice should be abandoned.

Keywords
Consanguinity; Rare genetic diseases; Usher’s syndrome; Neurofibromatosis; Association

 
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