Alpha-fucosidosis – Two brothers presenting with dysostosis multiplex

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

Research output: Contribution to journalArticlepeer-review

5 Citations (Scopus)


α-Fucosidosis is a rare inherited neuro-degenerative disorder causing progressive neurological deterioration leading to early death. Definitive diagnosis requires α-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 α-fucosidosis and a clinical approach to reach to the diagnosis.

Original languageEnglish
Pages (from-to)243-246
Number of pages4
JournalEgyptian Journal of Medical Human Genetics
Issue number3
Publication statusPublished - 1 Jul 2016


  • Alpha-fucosidosis
  • Dysostosis multiplex
  • Pakistani patients


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