Adrenoleukodystrophy

Abstract

Introduction: Adrenoleukodystrophy (ALD) is a disease characterized by the accumulation of very long chain fatty acids in tissues throughout the body. The most severely affected tissues are the myelin in the central nervous system, the adrenal cortex and the Leydig cells in the testes. Clinically, ALD is a heterogeneous disorder, presenting with several distinct phenotypes, and no clear pattern of genotype-phenotype correlation. Case report: Patients S.A. 50 years old, in the third year of life was diagnosed with primary adrenal insufficiency. From the age of 45 he feels, headache, dizziness, bends to the right when walking, night incontinence of urine. Talking to himself, the last year goes to the cemetery every day, occasionally crying without control and remembrance. Condition with spinocerebellar ataxia and a left pyramidal defect with incontinence of urine and psychiatric problems required re-examination. In consultation with neurologist at the Department of Neurology, investigations have shown that patient is suffering from X-linked adrenoleukodystrophy with affected central and peripheral nervous system. Adrenoleukodystrophy (ALD) is caused by mutations in ABCD1, a gene located on the X chromosome that codes for ALD, a peroxisomal membrane transporter protein. The exact mechanism of the pathogenesis of the various forms of ALD is not known. it is a disorder of peroxisomal fatty acid beta oxidation which results in the accumulation of very long chain fatty acids in tissues throughout the body. The most severely affected tissues are the myelin in the central nervous system, the adrenal cortex and the Leydig cells in the testes. Clinically, ALD is a heterogeneous disorder, presenting with several distinct phenotypes, and no clear pattern of genotype-phenotype correlation. As an X-linked disorder, ALD presents most commonly in males, however approximately 50% of heterozygote females show some symptoms later in life. Approximately two-thirds of ALD patients will present with the childhood cerebral form of the disease, which is the most severe form. It is characterized by normal development in early childhood, followed by rapid degeneration to a vegetative state. The other forms of ALD vary in terms of onset and clinical severity, ranging from adrenal insufficiency to progressive paraparesis in early adulthood (this form of the disease is typically known as adrenomyeloneuropathy). Conclusion: In our case hypocorticism was the first sign of X-linked adrenoleukodystrophy. In male patients with hypocorticism X-linked adrenoleukodystrophy should always be excluded as one of the possible causes of primary adrenal insufficiency.

Keywords

• adrenaloleukodystrophy
• morbus addison
• x-linked recessive genetic disorder