Abstract
Adrenoleukodystrophy (ALD) is an X-linked inherited metabolic disease associated with the accumulation of very long chain fatty acids (VLCFA) in the nervous system, adrenal cortex, and testes. At least seven phenotypes can be distinguished, which are Addison only, childhood, adolescent and adult cerebral ALD, adrenomyeloneuropathy (AMN), and symptomatic or asymptomatic carriers. Children most often develop rapidly a progressive cerebral disease, whereas adults rarely develop a cerebral disease. The majority of adult-onset ALD patients are AMN. The prognosis of ALD remains unpredictable in individual patients. Family history can be very informative. The plasma VLCFA assay permits precise diagnosis. Specific changes on brain Magnetic Resonance Imaging (MRI) can have diagnostic utility. However, there is considerable overlap among adult-onset leukodystrophies. Adult onset form of cerebral X-linked ALD (AOCALD) is a rare disease. The disease progresses rapidly with widespread demyelination of the cerebral hemispheres. AOCALD is an important differential diagnosis for adults with psychiatric symptoms and progressive cognitive changes. In this article, we review on case reports of AOCALD.
Highlights
ALD is an X-linked inherited metabolic disease associated with very long chain fatty acids (VLCFA) accumulation in the nervous system, adrenal cortex, and testes [1] [2]
Hallucinations and delusions are not common as initial symptoms, we reported the case of Adult onset form of cerebral X-linked ALD (AOCALD) heralded by auditory hallucinations and delusions [15]
VLCFA, 2) age of onset is older than 20 years old, 3) presence of cerebral demyelination confirmed by brain Magnetic Resonance Imaging (MRI) or CT
Summary
ALD is an X-linked inherited metabolic disease associated with very long chain fatty acids (VLCFA) accumulation in the nervous system, adrenal cortex, and testes [1] [2]. It is caused by a mutation in the ABCD1 gene on chromosome Xq28. A number of different mutations in the. How to cite this paper: Furuhashi, Y. and Ishikawa, M. (2015) Adult Onset Cerebral X-Linked Adrenoleuokodystrophy in 18 Cases.
Sign-in/Register to view highlights & summary Talk to us
Join us for a 30 min session where you can share your feedback and ask us any queries you have
Schedule a callDisclaimer: All third-party content on this website/platform is and will remain the property of their respective owners and is provided on "as is" basis without any warranties, express or implied. Use of third-party content does not indicate any affiliation, sponsorship with or endorsement by them. Any references to third-party content is to identify the corresponding services and shall be considered fair use under The CopyrightLaw.
