title: X-linked adrenoleukodystrophy in a 6-year-old boy initially presenting with psychiatric symptoms.
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.
authors.affiliation: Divisions of Pediatric Neurology, Department of Pediatrics, Çukurova University Faculty of Medicine, Adana, Turkey. fincecik@cu.edu.tr.
authors.forename: Faruk
authors.initials: F
authors.lastname: İncecik
authors.forename: M Özlem
authors.initials: MÖ
authors.lastname: Hergüner
authors.forename: Gülen
authors.initials: G
authors.lastname: Mert
authors.forename: Neslihan
authors.initials: N
authors.lastname: Önenli-Mungan
authors.forename: Serdar
authors.initials: S
authors.lastname: Ceylaner
authors.forename: Deniz
authors.initials: D
authors.lastname: Kör
authors.forename: Şakir
authors.initials: Ş
authors.lastname: Altunbaşak
mesh_terms: D000074063:ATP Binding Cassette Transporter, Subfamily D, Member 1; D018528:ATP-Binding Cassette Transporters / Q000235:genetics; D000326:Adrenoleukodystrophy / Q000150:complications / Q000175:diagnosis / Q000235:genetics*; D002648:Child; D003072:Cognition Disorders / Q000175:diagnosis / Q000209:etiology*; D004252:DNA Mutational Analysis; D003937:Diagnosis, Differential; D006801:Humans; D008297:Male; D009154:Mutation; D059906:Neuroimaging
chemical_list: C115572:ABCD1 protein, human; D000074063:ATP Binding Cassette Transporter, Subfamily D, Member 1; D018528:ATP-Binding Cassette Transporters