Abstract

Distinct cerebrovascular features in patients with ADA2 deficiency

Highlights

  • Mutations of CECR1 have been recently reported as causative of an inflammatory condition characterized by an early onset vasculopathy resembling polyarteritis nodosa

  • The clinical manifestations of the disease are heterogeneous with a wide range of severity

  • Gaslini Institute, 2nd Division of Pediatrics, Genova, Italy

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Summary

Objectives

To describe the neuroradiologic features of patients affected by ADA2 deficiency with central nervous system (CNS) involvement

Methods
Results
Conclusion
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