Spastic paraparesis caused by X-linked adrenoleukodystrophy mimicking vacuolar myelopathy in a human immunodeficiency virus patient: A case report

Medicine
Jin-Sung Park, Donghwi Park

Abstract

Vacuolar myelopathy is one of most common cause of spastic paresis in patients with human immunodeficiency virus (HIV) infection. However, X-linked adrenoleukodystrophy (X-ALD), which is a metabolic disorder caused by impairment of peroxisomal beta-oxidation of very-long-chain fatty acids (VLCFA), also manifests as various neurological deteriorations including adult onset spastic paraparesis. To the best of our knowledge, there has been no report of newly developed spastic paresis due to X-ALD in a patient with HIV infection. A 30-year-old male had presented with progressive spastic paraparesis for 1 year. X-ALD. Brain and spine magnetic resonance imaging (MRI), VLCFA, and genetic test. His spinal MRI mimicked vacuolar myelopathy, but he was finally diagnosed with X-ALD using the VLCFA and genetic test. Although rare, isolated spastic paraparesis can occur in HIV patients; additional tests such as VLCFA can be useful for the differential diagnosis. More data are needed to understand the pathological mechanisms underlying the two diseases.

References

Mar 16, 2000·Seminars in Neurology·A Di Rocco
Nov 19, 2002·Journal of Human Genetics·Yasuhiko TakemotoNaomi Kondo
Nov 9, 2005·The Journal of Infection·Kerstin AnnekenIngo-W Husstedt
Jun 28, 2011·Molecular Genetics and Metabolism·Ying WangSteven Steinberg
Aug 15, 2012·Orphanet Journal of Rare Diseases·Marc EngelenBwee Tien Poll-The
Apr 11, 2014·Yonsei Medical Journal·Hyung Jun ParkSeung Min Kim
Apr 14, 2016·Brain : a Journal of Neurology·Antonella CastellanoEttore Salsano

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Methods Mentioned

BETA
PCR

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Adrenoleukodystrophy

Adrenoleukodystrophy (ALD), the most frequent peroxisomal disorder, is an X-linked disorder caused by a defect in the metabolism of long chain fatty acids leading to demyelination, neurodegeneration, and death. Here is the latest research.

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