X-linked Adrenoleukodystrophy in a 6-year-old Boy Initially Presenting With Psychiatric Symptoms

Turk J Pediatr. Nov-Dec 2014;56(6):651-3.

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.

Publication types

  • Case Reports

MeSH terms

  • ATP Binding Cassette Transporter, Subfamily D, Member 1
  • ATP-Binding Cassette Transporters / genetics
  • Adrenoleukodystrophy / complications
  • Adrenoleukodystrophy / diagnosis
  • Adrenoleukodystrophy / genetics*
  • Child
  • Cognition Disorders / diagnosis
  • Cognition Disorders / etiology*
  • DNA Mutational Analysis
  • Diagnosis, Differential
  • Humans
  • Male
  • Mutation
  • Neuroimaging

Substances

  • ABCD1 protein, human
  • ATP Binding Cassette Transporter, Subfamily D, Member 1
  • ATP-Binding Cassette Transporters