Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
1-2
pubmed:dateCreated
2009-9-9
pubmed:abstractText
Adult onset cerebral X-ALD (AOCALD) is a rare disease, but should be considered an important differential diagnosis in adults presenting with leukencephalopathy. We here report the case of a 40-year-old man with a history of progressive cognitive decline who presented with a first-time seizure. Initial workup included magnetic resonance imaging (MRI) of the brain which showed extensive frontotemporal leukoencephalopathy. A subsequent brain biopsy showed demyelination and perivascular macrophages. Further workup included serum very long chain fatty acid concentration (VLCFA), which was found to be elevated. An MRI of the total spine showed diffuse atrophy, but no intrinsic cord signal changes, and the diagnosis of AOCALD was established. Genomic sequencing revealed a nonsense mutation in exon 8 (2188G-->A, W601X), to our knowledge not reported in context with AOCALD. A family pedigree was obtained, and other family members at risk were identified and underwent genetic counseling. In conclusion, AOCALD is an important differential diagnosis in adults presenting with cognitive decline. While treatment for affected patients is often supportive only, molecular diagnosis serves as a basis for genetic counseling, identification of relatives at risk and timely referral to a treatment program.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Oct
pubmed:issn
1878-5883
pubmed:author
pubmed:issnType
Electronic
pubmed:day
15
pubmed:volume
285
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
235-7
pubmed:meshHeading
pubmed:year
2009
pubmed:articleTitle
Leukoencephalopathy in adults: is it adrenoleukodystrophy? A case report and molecular analysis.
pubmed:affiliation
Department of Neurology, Yale School of Medicine, P.O. Box 208018, New Haven, CT 06520-8018, USA. carolin.dohle@yale.edu
pubmed:publicationType
Journal Article, Case Reports