Abstract Details

Title Adult-Onset Autosomal Dominant Leukodystrophy as a Multiple Sclerosis Mimic

Topic MS and Related Diseases

Presentation(s) P02 - (-)

Poster/Presentation
Number 110

Objective

Background BACKGROUND: Adult-onset ADLD is a rare demyelinating disease of the central nervous system caused by duplication of the lamin B1 gene (LMNB1). Because of its autonomic features and prominent white matter involvement, ADLD is often initially mistaken for primary progressive MS. Distinction between these similar diseases is crucial for appropriate treatment and family counseling.

Design/Methods DESIGN/METHODS: This is a case report with relevant neuroimaging review.

Results RESULTS: A 58 year old right-handed male with a diagnosis of multiple sclerosis presented to our office for a second opinion. Detailed history revealed a 10-year history of impotence with recent constipation and increasing urinary urgency/frequency despite use of tamsulosin. The patient's mother as well as maternal aunt, uncle and cousin had experienced similar symptoms and all died in their 60s from respiratory decline. On examination the patient was mildly spastic with diffuse hyperreflexia and Babinski sign present bilaterally. MRI brain showed diffuse subcortical and deep white matter T2 hyperintensities sparing the U fibers but extending to the midbrain, middle cerebellar peduncles and medulla. Spinal cord imaging was normal. Chromosome 5 analysis showed LMNB1 duplication consistent with ADLD.

Conclusions CONCLUSIONS: Adult-onset ADLD is characterized by early autonomic dysfunction and diffuse white matter disease in patients with a family history suggesting autosomal dominant inheritance. Ataxia and cognitive changes are variably seen. Unlike in MS, white matter lesions in ADLD are symmetrical and have a preference for the corticospinal tracts and brainstem with sparing of the cortex, corpus callosum and periventricular regions. Thorough history taking and careful MRI analysis in our patient prompted appropriate genetic testing and subsequent family counseling.

Authors/Disclosures
Jonathan M. Beary, DO, FAAN (Bothwell Neurology) PRESENTER	No disclosure on file
Devon Conway, MD	Dr. Conway has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Bristol Myers Squibb. Dr. Conway has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Alexion. Dr. Conway has received personal compensation in the range of $5,000-$9,999 for serving as a Consultant for Genentech. Dr. Conway has received personal compensation in the range of $5,000-$9,999 for serving as a Consultant for Amgen. Dr. Conway has received personal compensation in the range of $5,000-$9,999 for serving as a Consultant for Biogen. Dr. Conway has received personal compensation in the range of $10,000-$49,999 for serving on a Speakers Bureau for Biogen. The institution of Dr. Conway has received research support from Novartis. The institution of Dr. Conway has received research support from BMS. The institution of Dr. Conway has received research support from Biogen.
Patrick Vermersch (CHR de Lille)	Patrick Vermersch has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Biogen. Patrick Vermersch has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Merck. Patrick Vermersch has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Sanofi. Patrick Vermersch has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Novartis. Patrick Vermersch has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Roche. Patrick Vermersch has received personal compensation in the range of $500-$4,999 for serving as a Consultant for AB Science. Patrick Vermersch has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Imcyse. Patrick Vermersch has received personal compensation in the range of $500-$4,999 for serving as a Consultant for BMS-Celgene. Patrick Vermersch has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Ad Scientiam. Patrick Vermersch has received personal compensation in the range of $500-$4,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Biogen. Patrick Vermersch has received personal compensation in the range of $500-$4,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Roche. Patrick Vermersch has received personal compensation in the range of $500-$4,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Novartis. Patrick Vermersch has received personal compensation in the range of $500-$4,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Sanofi. Patrick Vermersch has received personal compensation in the range of $500-$4,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Teva. Patrick Vermersch has received personal compensation in the range of $500-$4,999 for serving as an Editor, Associate Editor, or Editorial Advisory Board Member for La revue des microbiotes. The institution of Patrick Vermersch has received research support from Roche. The institution of Patrick Vermersch has received research support from Sanofi.

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