Fig. 10

A 12-year-old male with deficiency of adenosine deaminase type 2 (DADA2) and long history of recurrent fever, left thalamic stroke at 5 years of age, livedo reticularis, and erythema nodosum: a Axial T2-weighted image demonstrates high signal left thalamic lesion with mild negative mass effect (arrow), no surrounding edema and no diffusion restriction (not shown), indicative of old infarct. b Aortic angiogram through a right femoral puncture access: pruning, distal obliteration and irregularity of the intra-hepatic arteries (black arrow). There are multiple microaneurysms in the distal branches of the splenic artery (white arrows) and intra renal arteries of the right kidney (yellow arrows). There is hypervascularity of the jejunum with multiple irregularities and micro-aneurysms involving the jejunal branches (red arrows). Findings are in keeping with small vessel vasculitis such as polyarteritis nodosa (PAN). This patient tested positive for disease-causing gene mutation (CECR1)