Alpha-fucosidosis – Two brothers presenting with dysostosis multiplex

Alpha-fucosidosis – Two brothers presenting with dysostosis multiplex

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...

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Main Authors: Rimshah Shaukat, Syed Musa Raza, Zabedah Md. Yuns, Affandi Omar, Bushra Afroze
Format: Article
Language:English
Published: SpringerOpen 2016-07-01
Series:Egyptian Journal of Medical Human Genetics
Subjects:
Alpha-fucosidosis
Pakistani patients
Dysostosis multiplex
Online Access:http://www.sciencedirect.com/science/article/pii/S1110863015001238
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spelling doaj-93058dd089b0408e87c78fe8463cf1202020-11-25T01:22:00ZengSpringerOpenEgyptian Journal of Medical Human Genetics1110-86302016-07-0117324324610.1016/j.ejmhg.2015.11.004Alpha-fucosidosis – Two brothers presenting with dysostosis multiplexRimshah Shaukat0Syed Musa Raza1Zabedah Md. Yuns2Affandi Omar3Bushra Afroze4Aga Khan Medical University, Karachi, PakistanAga Khan Medical University, Karachi, PakistanInstitute of Medical Research, Kuala Lumpur, MalaysiaInstitute of Medical Research, Kuala Lumpur, MalaysiaDepartment of Paediatrics & Child Health, Aga Khan University Hospital, Karachi, Pakistanα-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.http://www.sciencedirect.com/science/article/pii/S1110863015001238Alpha-fucosidosisPakistani patientsDysostosis multiplex
collection DOAJ
language English
format Article
sources DOAJ
author Rimshah Shaukat
Syed Musa Raza
Zabedah Md. Yuns
Affandi Omar
Bushra Afroze
spellingShingle Rimshah Shaukat
Syed Musa Raza
Zabedah Md. Yuns
Affandi Omar
Bushra Afroze
Alpha-fucosidosis – Two brothers presenting with dysostosis multiplex
Egyptian Journal of Medical Human Genetics
Alpha-fucosidosis
Pakistani patients
Dysostosis multiplex
author_facet Rimshah Shaukat
Syed Musa Raza
Zabedah Md. Yuns
Affandi Omar
Bushra Afroze
author_sort Rimshah Shaukat
title Alpha-fucosidosis – Two brothers presenting with dysostosis multiplex
title_short Alpha-fucosidosis – Two brothers presenting with dysostosis multiplex
title_full Alpha-fucosidosis – Two brothers presenting with dysostosis multiplex
title_fullStr Alpha-fucosidosis – Two brothers presenting with dysostosis multiplex
title_full_unstemmed Alpha-fucosidosis – Two brothers presenting with dysostosis multiplex
title_sort alpha-fucosidosis – two brothers presenting with dysostosis multiplex
publisher SpringerOpen
series Egyptian Journal of Medical Human Genetics
issn 1110-8630
publishDate 2016-07-01
description 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.
topic Alpha-fucosidosis
Pakistani patients
Dysostosis multiplex
url http://www.sciencedirect.com/science/article/pii/S1110863015001238
work_keys_str_mv AT rimshahshaukat alphafucosidosistwobrotherspresentingwithdysostosismultiplex
AT syedmusaraza alphafucosidosistwobrotherspresentingwithdysostosismultiplex
AT zabedahmdyuns alphafucosidosistwobrotherspresentingwithdysostosismultiplex
AT affandiomar alphafucosidosistwobrotherspresentingwithdysostosismultiplex
AT bushraafroze alphafucosidosistwobrotherspresentingwithdysostosismultiplex
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