A Case Report of Adrenomyeloneuropathy- A variant of X linked Adrenoleukodystrophy
Journal Title: Gujarat Medical Journal - Year 2018, Vol 73, Issue 1
Abstract
We, hereby, report a case of 33 years old menwith 10 years history of progressive spastic paraparesis with bladder involvement. His MRI dorsal spine was suggestive of dorsal cord atrophy & on nerve conduction velocity he had sensorimotor axonal polyneuropathy affecting both lower limbs. His very long-chain fatty acids (VLCFA) levels were raised. His cortisol level was reduced. He is currently being treated with oral steroids & physiotherapy. Adrenomyeloneuropathy is a rare X-linked inherited disorder of peroxisomes. It is caused bymutations in the ABCD1 gene that encodes the peroxisomal membrane protein ALDP which is involved in the transmembrane transport of VLCFA( C22).Adefect inALDP results in elevated levels of VLCFAin plasma and tissues. X linked Adrenoleukodystrophy (ALD) has three main phenotypes: Addison-only, adrenomyeloneuropathy, and cerebral ALD. CerebralALD is further divided into childhood and adolescent/adult onset.
Authors and Affiliations
Mitesh Chandarana, Heli Shah, Swati Trivedi, Mayank Patel, Navneet Shah
Keywords
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