Adrenoleukodystrophy: adult type

Case contributed by Mustafa Hammad
Diagnosis probable

Presentation

Known case of Addison's disease. Presented with spastic gait and hyperreflexia.

Patient Data

Age: 45 years old
Gender: Male

Brain MRI shows symmetrical confluent hyperintnse signal in T2WI, FLAIR involving the posterior (occipitoparietal) periventricular white matter, sparing the subcortical U fibers.

Whole spine MRI shows thinning/atrophic changes of thoracic spinal cord in comparison with the cervical and lumbar regions.

Case Discussion

Adrenoleukodystrophy is an X-linked disorder which involves mainly the nervous system white matter and the adrenal cortex. The adult neurologic variant of ALD, adrenomyeloneuropathy is the most common form, which is characterized by spinal cord atrophy and white matter changes.

Adrenoleukodystrophy is frequently associated with adrenal insufficiency (Addison's disease). 

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