X-linked adrenoleukodystrophy: a novel mutation of abcd1 gene in a bahraini boy

ABSTRACT

Adrenoleukodystrophy [ALD] is an X-Linked recessive neurodegenerative disease that affects the brain and the adrenal glands. It presents with a wide spectrum of clinical variants. The severe childhood cerebral form of ALD is a known cause of severe disability in children that leads to early death. ABCD1 is the only gene associated with X-linked ALD. More than 1400 different mutations have been identified in the ABCD1 gene. We present a case of X-linked ALD with novel mutation. Our patient was a boy who presented with intermittent right eye exotropia, poor attention span and subsequent deterioration in hearing, vision, speech and swallowing. He had dramatic worsening of his neurological symptoms over few months. His investigations showed high serum very long chain fatty acids [VLCFA] with extensive demyelination involving bilateral parieto-occipital regions on brain MRI. His mother had an extended family history of ALD in five of her brothers with variable phenotypes ranging from the severe childhood cerebral form to the milder variant of ALD. Genetic testing revealed novel missense mutation in exon 6 of the ABCD1 gene with hemizygous ABCDlc.l585G>T variant. The same mutation was detected in his younger asymptomatic brother. The aim of this case report is to present a familial case of childhood onset cerebral X-linked ALD with novel gene mutation in exon 6 of the ABCD1 gene