A Tanzanian Boy with Molecularly Confirmed X-Linked Adrenoleukodystrophy.

Autor: Dekker MCJ; Department of Paediatrics and Child Health, Kilimanjaro Christian Medical Centre, P.O. Box 3010, Moshi, Tanzania., Sadiq AM; Department of Radiology, Kilimanjaro Christian Medical Centre, P.O. Box 3010, Moshi, Tanzania., Mc Larty R; Department of Paediatrics and Child Health, Kilimanjaro Christian Medical Centre, P.O. Box 3010, Moshi, Tanzania., Mbwasi RM; Department of Paediatrics and Child Health, Kilimanjaro Christian Medical Centre, P.O. Box 3010, Moshi, Tanzania., Willemsen MAAP; Department of Pediatrics, Radboud University Medical Center, Geert Grooteplein Zuid 10, 6525 GA Nijmegen, Netherlands., Waterham HR; Laboratory Genetic Metabolic Diseases, Amsterdam UMC-Location AMC, University of Amsterdam, Amsterdam, Netherlands., Hamel BC; Department of Human Genetics, Radboud University Medical Center, Geert Grooteplein Zuid 10, 6525 GA Nijmegen, Netherlands.
Jazyk: angličtina
Zdroj: Case reports in genetics [Case Rep Genet] 2019 Dec 31; Vol. 2019, pp. 6148425. Date of Electronic Publication: 2019 Dec 31 (Print Publication: 2019).
DOI: 10.1155/2019/6148425
Abstrakt: Adrenoleukodystrophy (ALD) is an X-linked peroxisomal disorder with classical features, which can be also recognised in a low resource setting. It had been described in various populations across the globe, but very few cases have been reported from Africa. In a boy with features of a progressive central nervous system condition and adrenal failure, ABCD1 gene screening was performed based on a clinical history and basic radiological features which were compatible with ALD. A common ABCD1 mutation was identified in this patient, which is the first report of genetically confirmed ALD in Sub-Saharan Africa. ALD is likely under recognised in those areas where there is no neurologist. This genetic confirmation widens geographical distribution of ABCD1 -associated disease, and illustrates recognisability of this disorder, even when encountered in a low-resource environment.
Competing Interests: The authors declare that they have no conflicts of interest relevant to this work. The authors received no financial support for the study, authorship and/or publication of this article.
(Copyright © 2019 M. C. J. Dekker et al.)
Databáze: MEDLINE
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