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., ...More

TURKISH JOURNAL OF PEDIATRICS, vol.56, no.6, pp.651-653, 2014 (SCI-Expanded) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 56 Issue: 6
  • Publication Date: 2014
  • Journal Name: TURKISH JOURNAL OF PEDIATRICS
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Page Numbers: pp.651-653
  • Keywords: X-linked adrenoleukodystrophy, clinical presentation, childhood, DIAGNOSIS, THERAPY, ALD
  • Çukurova University Affiliated: Yes

Abstract

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.