Abstract
X-linked adrenoleukodystrophy is an X-linked recessive disorder affecting approximately 1 in 21,000 males, and is estimated to be the cause of adrenal insufficiency in approximately 35% of patients with idiopathic Addison’s disease. The disease is caused by defective beta-oxidation of fatty acids in peroxisomes that leads to elevated serum concentrations of very-long-chain saturated fatty acids. The accumulation causes a primary adrenal insufficiency and progressive neurological dysfunction. This article presents a case of X-linked adrenoleukodystrophy in its milder form, adrenomyeloneuropathy.
Highlights
The patient’s history is significant for Addison’s disease
X-linked adrenoleukodystrophy is an X-linked recessive disorder affecting approximately 1 in 21,000 males, and is estimated to be the cause of adrenal insufficiency in approximately 35% of patients with idiopathic Addison’s disease
The disease is caused by defective beta-oxidation of fatty acids in peroxisomes that leads to elevated serum concentrations of very-long-chain saturated fatty acids
Summary
The history, physical, and symptoms of our patient resulted in the consideration of several possibilities as is evident by our differential diagnosis list. Males carrying an X-ALD mutation will almost invariably develop disease, with about 50% developing adrenoleukodystrophy in early childhood and 50% developing adrenomyeloneuropathy later in adolescence or adulthood. Both phenotypes occur in the same family [6]. X-ALD is estimated to be the cause of adrenal insufficiency in approximately 35% of patients with idiopathic Addison’s disease and should be considered in the differential diagnosis of any male with adrenal insufficiency Neurological symptoms, such as changes in gait or peripheral neuropathy, may appear before adrenal insufficiency [8]. Patients may present with psychiatric disturbances months to years before onset of other problems [3]
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