Chronic Progressive Spastic Paraparesis: Think of Peroxisomal Disorders - A Case Report of X-Linked Adult Onset Adrenoleukodystrophy With an Update on The Latest Treatment Strategies

Hassan Kesserwani
Curēus 2020 August 9, 12 (8): e9626
The etiology of chronic progressive myelopathy can be a challenging diagnostic dilemma, especially in the absence of a structural lesion of the neural axis or a conspicuous inflammatory process. The differential diagnosis can be pleomorphic. However, the emergence of signs of adrenal dysfunction, lack of a structural lesion of the spinal cord and the emergence of cerebral demyelination should raise the suspicion of X-linked adrenoleukodystrophy (ALD). The biochemical signature of elevated serum very long chain fatty acids and a pathogenic mutation of the ATP-binding cassette subfamily D1 (ABCD1) gene is pathognomic. We present an adult variant case that marched through the classic catena of clinical syndromes: subtle adrenal dysfunction, chronic progressive myelopathy and ultimately cerebral demyelination. We outline the biochemistry, clinical semiology, pathology and therapeutic challenges in this group of patients. The unfolding disease in children and young adults can be arrested with allogenic and more recently autologous hematopoetic bone marrow transplantation. The challenge of therapy in adult patients with chronic progressive myelopathy who develop cerebral demyelination remains a therapeutic dilemma. Our case highlights the nuances of managing this group of patients and alerts the clinician to early diagnosis prior to the emergence of cerebral demyelination.

Full Text Links

Find Full Text Links for this Article


You are not logged in. Sign Up or Log In to join the discussion.

Related Papers

Remove bar
Read by QxMD icon Read

Save your favorite articles in one place with a free QxMD account.


Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"