Teaching NeuroImages: Lacunar stroke and polyarteritis nodosa ~Consider ADA2 deficiency (DADA2)~

Summary

  • 14yo M
  • PMHx
    • –7y livedo reticularis
  • Tentative Dx
    • cutaneous polyarteritis nodosa
      • acute impaired taste & tactile sensation on tongue
  • HPI
    • – 1y Lt partial oculomotor palsy (lacunar midbrain stroke)
  • Ex
    • DWI
      • multifocal VB ischemia
    • exome sequencing
      • ADA2
  • Rx
    • adalimumab (anti-TNF)

Terminology

Original

A 14-year-old boy with a 7-year history of livedo reticularis (figure 1) and initial diagnosis of cutaneous polyarteritis nodosa presented with acute impaired taste and tactile sensation on the tongue. One year prior, he showed left partial oculomotor palsy due to a lacunar midbrain stroke (figure 2A). New imaging (figure 2, B and C) revealed multifocal vertebrobasilar ischemia. Exome sequencing demonstrated compound heterozygosity in ADA2 (an intronic and a G47R1 mutation), confirming adenosine deaminase 2 deficiency, an early-onset autoinflammatory disease characterized by features of polyarteritis nodosa and stroke.2 The treatment was changed to adalimumab, whereas anti-tumor necrosis factor drugs are considered as first-line therapy.2,3

Figure 1

Cutaneous feature
Livedo reticularis.

Fig.1

Figure 2

MRI findings
Very small acute ischemic foci, showing diffusion-weighted imaging hyperintensity.
(A) First stroke involving left paramedian caudal midbrain.
(B, C) Second stroke involving right midbrain lateral tegmentum (B) and hypothalamus left wall (C).

Fig.2