A Case Report of Adrenomyeloneuropathy- A variant of X linked Adrenoleukodystrophy

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). A defect in ALDP results in elevated levels of VLCFA in plasma and tissues. X linked
Adrenoleukodystrophy (ALD) has three main phenotypes: Addison-only, adrenomyeloneuropathy, and cerebral
ALD. Cerebral ALD is further divided into childhood and adolescent/adult onset.