title: Clinical aspects and adrenal functions in eleven Japanese children with X-linked adrenoleukodystrophy.
abstract: X-linked adrenoleukodystrophy (X-ALD) is a genetic disease associated with demyelination of the central nervous system, adrenocortical insufficiency and accumulation of very long chain fatty acids. It is a clinically heterogeneous disorder ranging from a severe childhood cerebral form to an asymptomatic form. The incidence in Japan is estimated to be between 1:30,000 and 1:50,000 boys as determined by a nationwide retrospective survey between 1990 and 1999, which found no cases with Addison's form. We reviewed the medical records of eleven Japanese boys with X-ALD from 1990 to 2010 in our institute. Eight patients were detected by neuropsychological abnormalities, whereas a higher prevalence of unrecognized adrenocortical insufficiency (5/11: 45%) was observed than previously recognized. While no neurological abnormalities were demonstrated in two brothers, the elder brother had moderate Addison's disease at diagnosis and the presymptomatic younger brother progressed to Addison's disease six months after the diagnosis of X-ALD. Early detection of impaired adrenal function as well as early identification of neurologically presymptomatic patients by genetic analysis is essential for better prognosis. Addison's form might be overlooked in Japan; therefore, X-ALD should be suspected in patients with adrenocortical insufficiency.
authors.affiliation: Department of Pediatrics, Osaka University Graduate School of Medicine, 2-2 Yamadaoka, Suita City, Osaka, Japan.
authors.forename: Yoko
authors.initials: Y
authors.lastname: Miyoshi
authors.forename: Norio
authors.initials: N
authors.lastname: Sakai
authors.forename: Yusuke
authors.initials: Y
authors.lastname: Hamada
authors.forename: Makiko
authors.initials: M
authors.lastname: Tachibana
authors.forename: Yasuhiro
authors.initials: Y
authors.lastname: Hasegawa
authors.forename: Yuki
authors.initials: Y
authors.lastname: Kiyohara
authors.forename: Hiroyuki
authors.initials: H
authors.lastname: Yamada
authors.forename: Mari
authors.initials: M
authors.lastname: Murakami
authors.forename: Hiroki
authors.initials: H
authors.lastname: Kondou
authors.forename: Shihoko
authors.initials: S
authors.lastname: Kimura-Ohba
authors.forename: Junji
authors.initials: J
authors.lastname: Mine
authors.forename: Tatsuharu
authors.initials: T
authors.lastname: Sato
authors.forename: Noriko
authors.initials: N
authors.lastname: Kamio
authors.forename: Hitoshi
authors.initials: H
authors.lastname: Ueda
authors.forename: Yasuhiro
authors.initials: Y
authors.lastname: Suzuki
authors.forename: Masashi
authors.initials: M
authors.lastname: Shiomi
authors.forename: Hideaki
authors.initials: H
authors.lastname: Ohta
authors.forename: Nobuyuki
authors.initials: N
authors.lastname: Shimozawa
authors.forename: Keiichi
authors.initials: K
authors.lastname: Ozono
mesh_terms: D000224:Addison Disease / Q000097:blood / Q000235:genetics / Q000503:physiopathology* / Q000628:therapy; D000311:Adrenal Glands / Q000503:physiopathology*; D000324:Adrenocorticotropic Hormone / Q000097:blood; D000326:Adrenoleukodystrophy / Q000097:blood / Q000235:genetics / Q000503:physiopathology* / Q000628:therapy; D002648:Child; D002675:Child, Preschool; D004338:Drug Combinations; D004883:Erucic Acids / Q000008:administration & dosage; D006801:Humans; D006854:Hydrocortisone / Q000097:blood; D015994:Incidence; D007564:Japan; D008297:Male; D011446:Prospective Studies; D012189:Retrospective Studies; D014304:Triolein / Q000008:administration & dosage
chemical_list: D004338:Drug Combinations; D004883:Erucic Acids; C079420:Lorenzo's oil; D014304:Triolein; D000324:Adrenocorticotropic Hormone; D006854:Hydrocortisone