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, sa.6, ss.651-653, 2014 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 56 Sayı: 6
  • Basım Tarihi: 2014
  • Dergi Adı: TURKISH JOURNAL OF PEDIATRICS
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.651-653
  • Anahtar Kelimeler: X-linked adrenoleukodystrophy, clinical presentation, childhood, DIAGNOSIS, THERAPY, ALD
  • Çukurova Üniversitesi Adresli: Evet

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.