X-linked Adrenoleukodystrophy: Severe Head Trauma Masked Diagnosis—A Case Report

Introduction: X-linked adrenoleukodystrophy (OMIM 300100) is caused by the deficiency of a peroxisomal transmembrane protein responsible for the transport of very long chain fatty acids (ABCD1 gene). The various phenotypes (cerebral adrenoleukodystrophy, adrenomyeloneuropathy, Morbus Addison only, and women with X-ALD) do not correlate with the known mutations of the ABCD1 gene.1 In case of cerebral involvement, white matter lesions can be seen in the magnetic resonance imaging (MRI) of the brain and are graded by the Loes Score, which plays a role in prognosis and therapy.2 Hematopoietic stem cell transplantation (HCT) can stop the demyelinating process in brain, but it has to be performed at an early stage of the disease.3,4