Endocrine Abstracts

X-linked adrenoleukodystrophy (X-ALD) is a metabolic disorder caused by mutations in the ABCD1 gene leading to accumulation of very long-chain fatty acids (VLCFA) in plasma and all tissues, including the white matter of the brain, the spinal cord and adrenal cortex. There is an estimated incidence of 1 in 17.000 new-borns. The clinical features are variable ranging from primary adrenal insufficiency and progressive myelopathy to cerebral demyelination.

The authors report three cases of X-ALD confirmed by determination of VLCFA levels.

Case1

X-ALD diagnosed at 28 years old with primary adrenal insufficiency. Personal medical history of epilepsy. At 44 years old, no clinical manifestations of myelopathy or physical examination abnormalities. Normal magnetic resonance (MR).

Case 2

X-ALD diagnosed at 22 years old with primary adrenal insufficiency. His mother is a carrier and there is a high suspicion of maternal uncle death due to X-ALD at 22 years old. At 32 years old, reference to sporadic headaches and vertigo. Normal MR, however myelopathy confirmed by brainstem auditory evoked potentials.

Case 3

X-ALD diagnosed at 11 years old, discontinued medical follow-up at 25. After 3 years, admitted to the emergency department due to headaches, disorientation and urinary retention. MR showed active areas of demyelination. Normal previous MR. After 2 years is in a persistent vegetative state. Family history revealed brother with X-ALD, and mother and sisters carriers.

These cases emphasize the high clinical suspicion necessary for this rare clinical entity that exhibits a variable spectrum of clinical manifestations. Therefore VLCFA determination is recommended in male patients with Addison disease, in particular if adrenocortical autoantibodies are negative.