J Korean Endocr Soc.  2009 Mar;24(1):58-62. 10.3803/jkes.2009.24.1.58.

A Case of Adult-Onset Adrenoleukodystrophy Combined with Moyamoya Disease

• Kim YC
• Park BH
• Yu TY
• Jin AR
• Noh HJ
• Yang CY
• Kim HY
• Cho CG

• KMID: 1468498
• DOI: http://doi.org/10.3803/jkes.2009.24.1.58

Abstract

Adrenoleukodystrophy (ALD) is a rare inherited metabolic disease associated with the accumulation of very long chain fatty acids (VLCFA) in the central and peripheral nervous systems and adrenal glands, and leads to leukoencephaly myeloneuropathy, adrenal insufficiency, and hypogonadism. Frequent phenotypes, which account for 80% of cases, are infantile ALD and adrenomyeloneuropathy. Adult-onset ALD is rare (1~3%). The diagnosis of X-linked ALD is based on clinical findings and abnormal plasma concentrations of VLCFA. Here, we report a rare case of adult-onset ALD, which might involve a brain vascular operation as an aggravating factor, combined with moyamoya disease, in a 35-year-old male who presented with adrenal insufficiency, abnormal brain imaging, and elevated VLCFA levels.

Keyword

adrenoleukodystrophy; moyamoya disease

MeSH Terms

Adrenal Glands
Adrenal Insufficiency
Adrenoleukodystrophy
Adult
Brain
Fatty Acids
Humans
Hypogonadism
Male
Metabolic Diseases
Moyamoya Disease
Neuroimaging
Peripheral Nervous System
Phenotype
Plasma
Fatty Acids

Figure

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  Fig. 1 Pedigree of the patient (■ affected male, ◑ Carrier female).

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  Fig. 2 Axial T1 weighted image of the brain (Fig 2A) reveals both frontal lobe white matter and corpus callosum demyelination. Axial T2 weighted image (Fig 2B) and FLAIR image (Fig 2C) also shows both involvement of frontal lose white matter and corpus callosum.

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  Fig. 3 Brain magnetic resonance angiography reveals moyamoya vessels with total occlusion of the both supraclinoid internal carotid arteries.

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