Clinical aspects and adrenal functions in eleven Japanese children with X-linked adrenoleukodystrophy.
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.
Miyoshi
Yoko
Y
Department of Pediatrics, Osaka University Graduate School of Medicine, 2-2 Yamadaoka, Suita City, Osaka, Japan.
Sakai
Norio
N
Hamada
Yusuke
Y
Tachibana
Makiko
M
Hasegawa
Yasuhiro
Y
Kiyohara
Yuki
Y
Yamada
Hiroyuki
H
Murakami
Mari
M
Kondou
Hiroki
H
Kimura-Ohba
Shihoko
S
Mine
Junji
J
Sato
Tatsuharu
T
Kamio
Noriko
N
Ueda
Hitoshi
H
Suzuki
Yasuhiro
Y
Shiomi
Masashi
M
Ohta
Hideaki
H
Shimozawa
Nobuyuki
N
Ozono
Keiichi
K
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
D004338:Drug Combinations; D004883:Erucic Acids; C079420:Lorenzo's oil; D014304:Triolein; D000324:Adrenocorticotropic Hormone; D006854:Hydrocortisone