Deficiency of adenosine deaminase 2 in an elderly female with multiple intestinal ulcers and hemorrhagic stroke

Abstract

Deficiency of adenosine deaminase 2 (DADA2) is a recently identified monogenic systemic inflammatory vasculopathy with variable clinical phenotype. The majority of reported patients are in pediatric age group. In this case report, we present a case of DADA2 in an elderly female, who presented initially with multiple episodes of loose motions with bleeding per rectum and was diagnosed endoscopically as multiple rectal hemorrhagic ulcers. During her hospital stay, she had generalized tonic-clonic seizures and was detected to have a hemorrhagic stroke. The patient was managed with steroids, cyclophosphamide, and other supportive measures. She had excellent recovery with the disease in remission on low-dose steroids and mycophenolate mofetil.

Keywords

• deficiency of adenosine deaminase 2
• hemorrhagic stroke
• hemorrhagic ulcer
• neutropenia