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
32923227
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.

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