Atypical image presentation of X-linked adrenoleukodystrophy

Abstract

Introduction: X-linked adrenoleukodystrophy (X-linked ADL-X) is the most common peroxisomal disorder affecting central nervous system, adrenal cortex and testicular functions. Central nervous system manifestations in X-linked adrenoleukodystrophy can be divided into 2 subcategories: cerebral forms that are associated with rapidly progressive inflammatory myelopathy and adrenomyeloneuropathy which is a non-inflammatory distal axonopathy. In the last quarter of the 20th century, the underlying mechanisms were described, including causal mutations of the ABCD1 gene in the disease. Clinical case: six year old male patient with adequate neurodevelopment, history of seizure at 2 years, origin unclear. At the age of 5, he develops motor symptoms of rapid progression. First consultation for hemiparesis of the left hemicuerpus, ataxic gait, behavioral alteration. During the following year he presents symptoms of rapid progression of motor involvement; dysarthria and quadriparesis, initially asymmetric neuroimages show a progression of the lesion finally compatible with ADL-X, which is confirmed with very long chain acids and spectroscopy. Conclusion: Radiological findings of asymmetric demyelination have rarely been described as a typical X-ALD presentation. A case with atypical radiological presentation is described to document other possibilities of radiological findings in this syndrome with metabolic involvement and to consider this type of presentation in the child population, avoiding delays in diagnosis and increased possibilities for treatment.