Longitudinally extensive transverse myelopathy in a patient with CADASIL

Mielopatia transversa longitudinalmente extensa em um paciente com CADASIL

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).

Figure
Spinal cord involvement in 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

• Publication in this collection
  Sept 2015

History

• Received
  25 Jan 2015
• Reviewed
  08 Apr 2015
• Accepted
  28 Apr 2015