The Turkish Journal of Pediatrics
2014 , Vol 56 , Num 6
X-Linked Adrenoleukodystrophy in a 6-Year-Old Boy Initially Presenting with Psychiatric Symptoms
Divisions of 1Pediatric Neurology and 2Pediatric Metabolism, Department of Pediatrics, Çukurova University Faculty of
Medicine, Adana, 3Intergen Genetics Centre, Ankara, Turkey. E-mail: fincecik@cu.edu.tr
X-linked adrenoleukodystrophy (ALD) leads to demyelination of the nervous
system, adrenal insufficiency and accumulation of long-chain fatty acids. Most
young patients with X-linked ALD develop seizures and progressive neurologic
deficits, and die within the first two decades of life. We present the case
of a 6-year-old with childhood-onset ALD, first presenting with psychiatric
symptoms and progressive gait difficulties, slurred speech and cognitive
impairment. Genetic testing was performed and a p.R401Q (c.1202G>A)
mutation detected in the ABCD1 gene. ALD should be considered in the
differential diagnosis of patients presenting with behavior changes and white
matter disease in neuroimaging.
Keywords :
X-linked adrenoleukodystrophy, clinical presentation, childhood.