Affiliations: Department of Pediatric Neurology, Behcet Uz Child
Disease and Pediatric Surgery Educational and Research Hospital, Izmir,
Turkiye | Department of Pediatric Endocrinology, Behcet Uz Child
Disease and Pediatric Surgery Educational and Research Hospital, Izmir,
Turkiye | Department of Pediatrics, Behcet Uz Child Disease and
Pediatric Surgery Educational and Research Hospital, Izmir, Turkiye
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
