Neural Regeneration Research ›› 2012, Vol. 7 ›› Issue (3): 224-228.

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Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy in a Chinese pedigree A case report using brain magnetic resonance imaging and biospy

Erhe Xu, Huiqing Dong, Milan Zhang, Min Xu   

  1. Department of Neurology, Xuanwu Hospital, Capital Medical University, Beijing 100063, China
  • Received:2011-07-07 Revised:2011-12-13 Online:2012-01-25 Published:2012-01-25
  • Contact: Huiq-ing Dong, Master, Associate professor, Department of Neurology, Xuanwu Hospital, Capital Medical University, Beijing 100063, China shshtt@sina.com
  • About author:Erhe Xu☆, Doctor, Associate professor, Department of Neurology, Xuanwu Hospital, Capital Medical University, Beijing 100063, China Erhe Xu and Milan Zhang contributed equally to this work.

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Abstract:

The present study enrolled a Chinese family that comprised 34 members and spanned three generations. Eight members were diagnosed with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy, and disease diagnoses corresponded with autosomal incomplete dominance inheritance. The primary clinical manifestations included paralysis, dysarthria, and mild cognitive deficits. Magnetic resonance imaging revealed diffuse leukoencephalopathy with involvement of bilateral anterior temporal lobes, in particular the pons. In addition, multiple cerebral infarction was identified in the proband. Sural nerve biopsy findings of the proband revealed granular osmophilic material deposits in the extracellular matrix, which were adjacent to smooth muscle cells of dermal arterioles. Screening exons 2-4 for NOTCH 3 mutations by direct sequencing did not reveal any abnormalities.

Key words: cerebral autosomal dominant arteriopathy, dysarthria, granular osmophilic material, leukoencephalopathy, NOTCH 3, paresis, subcortical infarcts