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: 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.
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