A 52-year-old Brazilian man presented with a 3-year-history of progressive cognitive decline, seizures and tetraparesis with sphincter disturbances. Familial history was positive for stroke-like episodes. Examination disclosed spastic tetraparesis with posterior cord syndrome. Neuroimaging revealed a longitudinally extensive centromedullary hyperintensity in the spinal cord between C2-T1 levels and a diffuse leukoencephalopathy (Figure), highly suggestive of Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL).
CADASIL is a common hereditary vasculopathy in adults characterized by chronic migraine, subcortical infarcts and cognitive and behavioral disturbances1,2. Spinal cord involvement is extremely rare, making this a differential diagnosis of demyelinating diseases2,3.
References
- 1 Andre C. CADASIL: pathogenesis, clinical and radiological findings and treatment. Arq Neuropsiquiatr. 2010;68(2):287-99. doi:10.1590/S0004-282X2010000200026
- 2 Hinze S, Goonasekera M, Nannucci S, Quaqhebeur G, Briley D, Markus HS et al. Longitudinally extensive spinal cord infarction in CADASIL. Pract Neurol. 2015;15(1):60-2. doi:10.1136/practneurol-2014-000870
- 3 Bentley P, Wang T, Malik O, Nicholas R, Ban M, Sawcer S et al. CADASIL with cord involvement associated with a novel and atypical NOTCH3 mutation. J Neurol Neurosurg Psychiatry. 2011;82(8):855-60. doi:10.1136/jnnp.2010.223297
Publication Dates
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Publication in this collection
Sept 2015
History
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Received
25 Jan 2015 -
Reviewed
08 Apr 2015 -
Accepted
28 Apr 2015