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Suspected progeria in Nigeria: a case report
A P Olukotun1, G Obasikene, P R Adobamen
1Department of Surgery, Irrua Specialist Teaching Hospital, P.M.B. 8, Edo State, Nigeria.
Background:
Progeria is a rare fatal genetic condition characterized by an appearance of accelerated aging in children. It has an incidence of 1 in 8 million and results from a mutation of the LMNA gene causing nuclear instability. Clinical diagnosis is based on recognition of common clinical features and definitive diagnosis is by identifying the mutation in the LMNA gene. Affected children usually have a median life span of 13 years. There is no known cure but research is ongoing. Currently about 80 children have had a definitive diagnosis worldwide with the exclusion of Nigeria. There was however a case report of 3 siblings in the University of Benin Teaching Hospital, Benin City, Nigeria in 1990.
Objective:
To present a rare case of suspected progeria in Nigeria.
Case Report:
We report the case of baby IV, a 4-year old girl who presented with clinical and radiologic features consistent with progeria.
Conclusion:
Clinical and radiologic evidence give a high suspicion of progeria in the index patient. Efforts are ongoing to ensure a definitive diagnosis is made; which will be the first diagnosed case of progeria in Nigeria.
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