Status epilepticus in an adolescent patient with adrenoleukodystrophy

Abstract

Adrenoleukodystrophy is a neurodegenerative disease with X-linked recessive inheritance, which rapidly leads to neurological dysfunctions in childhood. It could only be treated by bone marrow transplantation at early stage. Here we report a case of X-linked adrenoleukodystrophy who was admitted to our hospital with status epilepticus and subclinical adrenal insufficiency. A 13-year-old boy, who had initially presented to a local hospital with seizures, was transferred to our hospital upon having generalized tonic-clonic seizures, which were followed by focal seizures. He had been introverted and amnesiac for the previous 2 months; hence, he had been receiving medication for major depression. However, his clinical condition worsened despite the medication. Although the patient lacked typical symptoms, he was diagnosed as having adrenoleukodystrophy upon detection of hyperintense lesions in occipitoparietal white matter by brain magnetic resonance imaging and increased serum very long chain fatty acid concentrations. Thus, we would like to emphasize the importance of awareness of physicians, particularly the pediatricians, neurologists and psychiatrists for clinical and laboratory characteristics of adrenoleukodystrophy.

Keywords

Adrenoleukodystrophy - adolescent - magnetic resonance imaging - adrenal insufficiency