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Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy with severe factor XII

Nadezda Sternic1, Aleksandra Pavlovic, Predrag Miljic

  • 1Institute of Neurology, University Clinical Center, Belgrade, Serbia.

Neurology India
|November 26, 2009
PubMed

Insights

Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a genetic condition. This case highlights Factor XII deficiency as a potential co-occurring factor influencing CADASIL progression.

Area of Science:

  • Neurology
  • Genetics
  • Hematology

Background:

  • Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is an inherited adult-onset microangiopathy.
  • It is caused by missense mutations in the Notch3 gene on chromosome 19.
  • Clinical presentation and disease progression can be modified by vascular risk factors and prothrombotic factors.

Observation:

  • A middle-aged man presented with typical clinical, neuroimaging, and histological features of CADASIL.
  • He exhibited a notably prolonged activated partial thromboplastin time.
  • Hematological investigations identified a severe clotting Factor XII deficiency.

Findings:

  • The patient's Factor XII deficiency was a significant finding in the context of CADASIL.
  • This case demonstrates an unusual hematological comorbidity in a patient with CADASIL.
  • The interplay between genetic predisposition and acquired hemostatic abnormalities was observed.

Implications:

  • This case underscores the importance of considering co-existing vascular risk factors in CADASIL patients.
  • Comprehensive hematological evaluation may be warranted in atypical CADASIL presentations.
  • Understanding these interactions can refine diagnostic and therapeutic strategies for CADASIL.

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