Alpha-fucosidosis – Two brothers presenting with dysostosis multiplex

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

doi:10.1016/j.ejmhg.2015.11.004

Alpha-fucosidosis – Two brothers presenting with dysostosis multiplex

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

Department of Paediatrics and Child Health, Division of Woman and Child Health, Medical College, Pakistan

Research output: Contribution to journal › Article › peer-review

5 Citations (Scopus)

Abstract

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 language	English
Pages (from-to)	243-246
Number of pages	4
Journal	Egyptian Journal of Medical Human Genetics
Volume	17
Issue number	3
DOIs	https://doi.org/10.1016/j.ejmhg.2015.11.004
Publication status	Published - 1 Jul 2016

Keywords

Alpha-fucosidosis
Dysostosis multiplex
Pakistani patients

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10.1016/j.ejmhg.2015.11.004

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title = "Alpha-fucosidosis – Two brothers presenting with dysostosis multiplex",

abstract = "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.",

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AU - Omar, Affandi

AU - Afroze, Bushra

PY - 2016/7/1

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N2 - 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.

AB - 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.

KW - Alpha-fucosidosis

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KW - Pakistani patients

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Alpha-fucosidosis – Two brothers presenting with dysostosis multiplex

Abstract

Keywords

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