Adrenoleukodystrophy has a prevalence rate of 1:20 000 and is a cause of adrenal insufficiency in association with demyelination within the nervous system due to a failure of β-oxidation of fatty acids within peroxisomes due to reduced activity of very long chain acyl-CoA synthetase. Several forms are recognized; a childhood cerebral form (30 to 40% cases), adult adrenomyeloneuropathy (40% cases), and Addisons disease only (7% cases). Adrenomyeloneuropathy, by contrast, presents later in life with the gradual development of spastic paresis and peripheral neuropathy. Here, we describe an illustrative case of adrenomyeloneuropathy and discuss the clinical presentation, diagnosis and management.
Case: The patient was healthy until the age of 15. He had progressive gait disturbance and urinary incontinance after he had progressive neurological abnormalities. He was diagnosed as adrenal insufficiency and neurologic sequela related with meningitis at the age of 18. In his first admission to our clinic at the age of 25, he showed acute adrenal insufficiency. After he recovered, we evaluated muscle strength as weak (34/5) and deep tendon reflexes as hyperactive in the lower extremities while normal in the upper extremities. Babinski signs were elicited bilaterally. Accordingly, these neurologic findings excluded sequela related to meningitis. He had urinary incontinence, erectly disfunction with preserved libido and ejaculation. The patients ACTH levels were elevated despite low levels of serum cortisol. Abdominal CT demonstrated adrenal atrophy. T2-weighted cerebral MRI showed a high signal intensity lesion in the occipital subcortical area. EMG demonstrated sensorimotor demyelinating polyneuropathy. Clinical features and laboratory findings confirmed the diagnosis of AMN. This case indicates the importance of neurological findings in Addison disease not to overlook this rare pathology, adrenomyeloneuropathy.
25 - 29 Apr 2009
European Society of Endocrinology