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Clinical aspects and adrenal functions in eleven Japanese children with X-linked adrenoleukodystrophy

Authors :
Mari Murakami
Yusuke Hamada
Yoko Miyoshi
Makiko Tachibana
Shihoko Kimura-Ohba
Hiroyuki Yamada
Norio Sakai
Nobuyuki Shimozawa
Hitoshi Ueda
Yuki Kiyohara
Noriko Kamio
Yasuhiro Hasegawa
Tatsuharu Sato
Junji Mine
Masashi Shiomi
Hideaki Ohta
Keiichi Ozono
Hiroki Kondou
Yasuhiro Suzuki
Source :
Endocrine Journal. 57:965-972
Publication Year :
2010
Publisher :
Japan Endocrine Society, 2010.

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.

Details

ISSN :
13484540 and 09188959
Volume :
57
Database :
OpenAIRE
Journal :
Endocrine Journal
Accession number :
edsair.doi.dedup.....a1cf5a6a2063e954883c09de38bfaaa1