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Clinical aspects and adrenal functions in eleven Japanese children with X-linked adrenoleukodystrophy
- 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.
- Subjects :
- Male
Erucic Acids
endocrine system
Pediatrics
medicine.medical_specialty
Pathology
Hydrocortisone
endocrine system diseases
Endocrinology, Diabetes and Metabolism
Disease
Asymptomatic
Endocrinology
Addison Disease
Adrenocorticotropic Hormone
Japan
Adrenal Glands
medicine
Humans
Prospective Studies
Adrenoleukodystrophy
Child
Prospective cohort study
Adrenocortical Insufficiency
Retrospective Studies
business.industry
Incidence
Incidence (epidemiology)
Retrospective cohort study
medicine.disease
Drug Combinations
Child, Preschool
Addison's disease
medicine.symptom
business
Triolein
Subjects
Details
- ISSN :
- 13484540 and 09188959
- Volume :
- 57
- Database :
- OpenAIRE
- Journal :
- Endocrine Journal
- Accession number :
- edsair.doi.dedup.....a1cf5a6a2063e954883c09de38bfaaa1