Author(s)

Elda Cristinne Mattos Botelho¹, Eduardo Romero Sampaio Botelho¹, Luciana Corrêa de Souza Rodrigues¹, Tatiana Prado Wanderley¹, Fernanda Navarini Queiroz¹, Pollyana Cirino Gomes Borges¹, Sabrina Arrais Rolim Aragão Ximenes Cruz¹, Janete Pacheco da Silva¹, Larissa Bianca Cunha de Sá¹, Alberto Krayyem Arbex^1,2

¹IPEMED Medical School, AFYA Educational, Brasília, Brazil.
²Medical Clinic in Endocrinology and Diabetology, Schleswig-Flensburg, Germany.

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.

Adrenoleukodystrophy, Adrenomyeloneuropathy, Adrenal Insufficiency, Addison’s Disease

Botelho, E. , Botelho, E. , Rodrigues, L. , Wanderley, T. , Queiroz, F. , Borges, P. , Cruz, S. , Silva, J. , Sá, L. and Arbex, A. (2020) Adrenal Insufficiency by Adrenoleukodystrophy. Health, 12, 1-13. doi: 10.4236/health.2020.121001.