Abstract
The X-linked adrenoleukodystrophy (ALD) is a severe neurodegenerative disorder due to mutations in the ABCD1 gene. Objective: To report a case of a 19-year-old man with adrenal insufficiency due to adrenoleukodystrophy. Method: Case report and literature review. Result: A previously healthy 19-year-old male patient was admitted to the emergency room with nausea and vomiting for 5 days, who progressed to abdominal pain, severe asthenia, and fever (38.5°C). He referred progressive darkening of the skin, oral mucosa, tongue and nail bed of the hands and feet, observed in the last 6 years. Emergency laboratory evaluation showed severe hyponatremia and hyperkalemia, which, together with decreased plasma cortisol, directed the investigation to causes of adrenal insufficiency. High ACTH (Adrenocorticotropic hormone) and very long chain fatty acid levels closed the diagnosis. Discussion: ALD is characterized by progressive demyelination in the central and peripheral nervous system and adrenal insufficiency consequence to the accumulation of very long chain fatty acids (VLCFA) in the adrenal. The overall incidence of ALD is 1:17,000. Adrenal insufficiency may be the first symptom of ALD in boys and adults. The diagnosis is based on the measurement of VLCFA plasma levels. Allogeneic bone marrow transplantation is the only treatment that provides a permanent cure when the procedure is performed at an early stage of brain demyelination, i.e. when patients are asymptomatic, although brain magnetic resonance imaging (MRI) is abnormal. Treatment of Addison’s disease is obligatory, but does not change the course of neurological symptoms.
Highlights
Adrenal insufficiency is the deficiency of hormones produced by the adrenal gland cortex
ALD is characterized by progressive demyelination in the central and peripheral nervous system and adrenal insufficiency consequence to the accumulation of very long chain fatty acids (VLCFA) in the adrenal
Adrenal insufficiency in ALD occurs by mutations in the ABCD1 gene that leads to the accumulation of lipid inclusions represented by very long chain fatty acids (VLCFA) in adrenal tissue
Summary
Adrenal insufficiency is the deficiency of hormones produced by the adrenal gland cortex. Adrenal insufficiency in ALD occurs by mutations in the ABCD1 gene that leads to the accumulation of lipid inclusions represented by very long chain fatty acids (VLCFA) in adrenal tissue. This excess of VLCFA causes altered adrenal cortex response to ACTH stimulation, increased adrenal cellular apoptosis and reduced cholesterol available for cortisol and androgen steroidogenesis. Allogeneic bone marrow transplantation is the only treatment that provides a permanent cure for the disease. This procedure is performed at an early stage of brain demyelination, that is, when patients are asymptomatic, brain MRI is abnormal. Dietary therapy failed to halt neurological progression in cerebral ALD and AMN [6]
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