Adrenomyeoloneuropathy, X-linked adrenoleukodystrophy phenotype. A Case Report

Abstract

Introduction: Adrenomyeoloneuropathy is a peroxisomal disease with a sex-linked pattern of inheritance. It is a phenotypic variety of X-linked adrenoleukodystrophy; this last one is also a cause of adrenal insufficiency. Non-pure adrenomyeoloneuropathy occurs with adrenal insufficiency. The diagnosis of the disease is made by dosing very long chain fatty acids in serum.  Clinical data, anamnesis, laboratory exams and imaging data are used for the diagnosis of phenotypes.
Objective: To present a case of X-linked adrenoleukodystrophy, adrenomyeoloneuropathy phenotype, evaluated by Reibergram.
Case presentation: We present a case of adrenomyeoloneuropathy and adrenal insufficiency in a male patient of 4 years of evolution who was admitted to "Dr. Miguel Enríquez" Clinical and Surgical Hospital, Havana, Cuba, 2016 because he was suffering from a respiratory process. The diagnosis of X-linked adrenoleukodystrophy was made. Laboratory exams, imaging techniques, the clinical method, and an adequate anamnesis were taken into account to for the identification of phenotypic variants.
Conclusions: Reibergram can contribute to the differential diagnosis between ADL-X phenotypes and the understanding of the neuroimmunological response in this disease, as it is demonstrated in this case.

Keywords: adrenomyeoloneuropathy, very long chain fatty acids, Reibergram, adrenal insufficiency, X-linked adrenoleukodystrophye.