Adrenoleukodystrophy Initially Diagnosed as Idiopathic Addison's Disease in Two Patients: The Importance of Early Testing

• Published in: Journal of the Formosan Medical Association Vol. 102; no. 7; pp. 510 - 513
• Main Authors: 胡務亮(Wuh-Liang Hwu), 簡穎秀(Yin-Hsiu Chien), 梁昭鋐(Jao-Shwann Liang), 李旺祚(Wang-Tso Lee), 王本榮(Peng-Jung Wang), 蔡文友(Wen-Yu Tsai)
• Format: Journal Article
• Language: English
• Published: Singapore 臺灣醫學會 01.07.2003
• Subjects: Addison Disease - diagnosis; Adrenoleukodystrophy - diagnosis; Age of Onset; Child; Child, Preschool; Diagnosis, Differential; Humans; Male; Case report; Adrenoleukodystrophy; Diagnosis; Age of onset; Addison's disease
• ISSN: 0929-6646
• DOI: 10.29828/JFMA.200307.0012

Childhood cerebral X-linked adrenoleukodystrophy (X-ALD) is a rare neurodegenerative disease typically presenting from age 4 to 8 years in males. We report 2 cases of X-ALD in boys. The diagnosis of Addison's disease was made before the development of neurological symptoms in both cases. The first patient had hyperpigmentation of the lips and an adrenocorticotropic hormone (ACTH) level higher than 1250 pg/mL when he was 7 years 3 months old. The initial diagnosis was Addison's disease, but X-ALD was diagnosed at age 8 years 8 months, when his motor and mental function deteriorated. The second boy had hypoglycemia, skin pigmentation, and an ACTH level of 1086 pg/mL when he was 4 years 6 months old, but the diagnosis was changed from Addison's disease to X-ALD owing to deterioration in speech at age 7 years. Since both bone marrow transplantation and Lorenzo's oil are beneficial only at the early stage of disease and idiopathic Addison's disease is very rare in children, it is important to test for very-long-chain fatty acids in boys suspected of having Addison's disease.