| Autor: |
İncecik, Faruk, Özlem Hergüner, M., Mert, Gülen, Önenli-Mungan, Neslihan, Ceylaner, Serdar, Kör, Deniz, Altunbasak, Sakir |
| Zdroj: |
Turkish Journal of Pediatrics; Nov/Dec2014, Vol. 56 Issue 6, p651-653, 3p, 1 Black and White Photograph |
| Abstrakt: |
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. [ABSTRACT FROM AUTHOR] |
| Databáze: |
Supplemental Index |
| Externí odkaz: |
|
