X-linked adrenoleukodystrophy in a 6-year-old boy initially presenting with psychiatric symptoms


İNCECİK F. , HERGUNER M. , MERT G., ONENLI-MUNGAN N., CEYLANER S., KOR D. , ...Daha Fazla

TURKISH JOURNAL OF PEDIATRICS, cilt.56, ss.651-653, 2014 (SCI İndekslerine Giren Dergi) identifier identifier identifier

  • Cilt numarası: 56 Konu: 6
  • Basım Tarihi: 2014
  • Dergi Adı: TURKISH JOURNAL OF PEDIATRICS
  • Sayfa Sayıları: ss.651-653

Özet

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.