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Egyptian Journal of Medical Human Genetics

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Alpha-fucosidosis – Two brothers presenting with dysostosis multiplex

Rimshah Shaukat, Syed Musa Raza, Zabedah Md. Yuns, Affandi Omar, Bushra Afroze

Abstract


a-Fucosidosis is a rare inherited neuro-degenerative disorder causing progressive neurological deterioration leading to early death. Definitive diagnosis requires a-fucosidase enzyme assay or FUCA1 gene testing, which being expensive limits the definitive diagnosis in resource limited countries. We present two siblings with classic symptoms, radiological and MRI brain findings suggestive of a-fucosidosis and a clinical approach to reach to the diagnosis.



http://dx.doi.org/10.1016/j.ejmhg.2015.11.004
AJOL African Journals Online