Late onset adrenoleukodystrophy: A review related clinical case report

Abstract

Our objective is to review the initial presentation, evolution, progression, final stage, and images in the follow up of an adult patient who presented an uncommon peroxisomal disease (1/20,000 males) that occurred by ABCD1 gene mutation in the Xq28 chromosome; to bring forward the imaging features (which nowadays is the most useful and accessible diagnostic tool) and clinical presentation of adrenoleukodystrophy in adulthood; to propose a differential diagnosis in aid of a prompt recognition of the disease hereafter from a neurologist approach. In relation of a clinical case we reviewed the literature to correlate the principal findings and evolution of the disease. This thrilling but at the same time unfortunate disease is not only a diagnostic problem is also a therapeutic quest besides all the related familial, labor, and social related problems. The very-long chain fatty acids (VLCFA) accumulation leads to a not completely understood mechanisms that precipitate the specific malfunction of the nervous system and adrenal gland. The initial corticospinal bilateral involvement provokes a spastic paraparesis but with the affection of others pathways multiple manifestations appears, with dementia and finally loss of the most of cortical functions secondary to the white matter affection. Since the hematopoietic stem cell transplantation can be treated with variable results, other treatments, as the Lorenzo's oil, have not been consistent with a substantial improvement of the affected individual. The genetic advice and support to the patient and the family are essentials as well as the screening in individuals at risk before the onset of the disease.

Keywords: Adrenoleukodystrophy; Adrenomyeloneuropathy; Cerebral adrenoleukodystrophy; Demyelination; Myelopathy.

Fig. 1

(Left) Brain MRI showing T2FLAIR hyperintense signals in the periventricular white matter of the occipital lobe and splenium of the corpus callosum (arrows) as well as in the posterior limb of the internal capsule (arrowhead). (Right) A subtle hyperintense region probably corresponding to the ventral column of the spinal cord (arrow). The patient also presented hyperintense lesions on the parietal lobe (not shown).

Fig. 2

Thirteen years later the second MRI study shows the previous lesions now compatible with demyelination involving a higher brain white matter extension and with increased intensity in T2FLAIR (up-left and middle) and evident in the splenium of the corpus callosum (up-right; arrow). The demyelination progresses into the brainstem through the motor pathways seen in the cerebral peduncles at the mesencephalon (down-right; arrows) and follows the track of the corticospinal tract from the brain to the brainstem in a bilateral manner (down-left; arrows).

Fig. 3

On the third MRI the previous lesions almost span over the whole brain white matter presenting as T1 hypointensities while cavitation takes place (middle) and now cover the corpus callosum in its enteriness (right). A severe cortical and subcortical atrophy can be observed.