A Child Case of Addison Disease Only Form Adrenoleukodystrophy with Novel ABCD1 Gene Mutation

초록

Adrenoleukodystrophy (ALD) is an uncommon peroxisomal disorder of β-oxidation that results in accumulation of very long chain fatty acid (VLCFA) in all tissues. X- lined ALD is caused by mutations in the APT-binding Cassette, Subfamily D, Member 1 gene (ABCD1 gene), located at Xq28, that encodes an ATP-binding cassette (ABC) transporter in the peroxisomal membrane. A spectrum of phenotypes varies in age and severity of clinical presentation. Addison disease only form is one of the phenotypes of ALD and is the cause for up to 20 percent of boys with idiopathic Addison disease. We report the case of a 12-year-old boy with X-linked ALD who presented with severe hyponatremic dehydration without any neurologic symptoms. He had adrenal insufficiency and markedly elevated serum VLCFA levels. He had abnormal findings in brain MRI without positive neurological test. Mutation analysis of ABCD1 gene identified a novel c.1635-1G>A (IVS6-1G>A) mutation.