Adrenoleukodystrophy (ALD)

Case Study A
A 35-year-old woman was referred to a neurology clinic for evaluation of a slowly progressive spastic paraparesis that had begun three years earlier. At that time she had been given a tentative diagnosis of multiple sclerosis. The woman complained of recently acquired bowel and bladder problems.

Inquiries regarding family history revealed that the woman had a son who had died at 10 years of age of an undiagnosed leukodystrophy. Her mother had been diagnosed with rheumatoid arthritis and also was paraparetic. The patient also had a niece who was described as "clumsy."

The patient was found to have hyperreflexia of the lower extremities and decreased vibration sense. Adrenal function was normal. CSF analysis and cranial MRI were unremarkable.

Analysis of the woman's plasma very long chain fatty acids revealed increased concentrations of C26:0 and increased ratios of C24:0/C22:0 and C26:0/C22:0, consistent with a diagnosis of heterozygosity for X-linked Adrenoleukodystrophy. There would be a 50% chance that this woman's male offspring would be affected with X-linked Adrenoleukodystrophy and a 50% chance that her female offspring would be carriers. Genetic counseling and analysis of very long chain fatty acids in first-degree family members were suggested.