A Tanzanian Boy with Molecularly Confirmed X-Linked Adrenoleukodystrophy. 2019

M C J Dekker, and A M Sadiq, and R Mc Larty, and R M Mbwasi, and M A A P Willemsen, and H R Waterham, and B C Hamel
Department of Paediatrics and Child Health, Kilimanjaro Christian Medical Centre, P.O. Box 3010, Moshi, Tanzania.

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.

UI MeSH Term Description Entries

Related Publications

M C J Dekker, and A M Sadiq, and R Mc Larty, and R M Mbwasi, and M A A P Willemsen, and H R Waterham, and B C Hamel
September 2014, Korean journal of pediatrics,
M C J Dekker, and A M Sadiq, and R Mc Larty, and R M Mbwasi, and M A A P Willemsen, and H R Waterham, and B C Hamel
January 2018, Tijdschrift voor psychiatrie,
M C J Dekker, and A M Sadiq, and R Mc Larty, and R M Mbwasi, and M A A P Willemsen, and H R Waterham, and B C Hamel
February 2009, Pediatric annals,
M C J Dekker, and A M Sadiq, and R Mc Larty, and R M Mbwasi, and M A A P Willemsen, and H R Waterham, and B C Hamel
August 2010, Neuropediatrics,
M C J Dekker, and A M Sadiq, and R Mc Larty, and R M Mbwasi, and M A A P Willemsen, and H R Waterham, and B C Hamel
May 2011, European child & adolescent psychiatry,
M C J Dekker, and A M Sadiq, and R Mc Larty, and R M Mbwasi, and M A A P Willemsen, and H R Waterham, and B C Hamel
February 2021, Acta neurologica Belgica,
M C J Dekker, and A M Sadiq, and R Mc Larty, and R M Mbwasi, and M A A P Willemsen, and H R Waterham, and B C Hamel
January 2014, The Turkish journal of pediatrics,
M C J Dekker, and A M Sadiq, and R Mc Larty, and R M Mbwasi, and M A A P Willemsen, and H R Waterham, and B C Hamel
December 1996, Annals of the New York Academy of Sciences,
M C J Dekker, and A M Sadiq, and R Mc Larty, and R M Mbwasi, and M A A P Willemsen, and H R Waterham, and B C Hamel
December 1993, Clinical neurology and neurosurgery,
M C J Dekker, and A M Sadiq, and R Mc Larty, and R M Mbwasi, and M A A P Willemsen, and H R Waterham, and B C Hamel
April 1996, Neurology,
Copied contents to your clipboard!