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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.

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eISSN: 1110-8630