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Case Reports
. 2015 May 19;84(20):2092-3.
doi: 10.1212/WNL.0000000000001581. Epub 2015 Apr 17.

Unexplained early-onset lacunar stroke and inflammatory skin lesions: Consider ADA2 deficiency

Willeke F Westendorp  1 , Paul J Nederkoorn  2 , Ivona Aksentijevich  2 , A Elisabeth Hak  2 , Klaske D Lichtenbelt  2 , Kees P J Braun  2
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Case Reports

Unexplained early-onset lacunar stroke and inflammatory skin lesions: Consider ADA2 deficiency

Willeke F Westendorp et al. Neurology. .
No abstract available

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Figures

Figure
Figure. Clinical features in 2 brothers with adenosine deaminase 2 deficiency
3T T1-weighted (A) and fluid-attenuated inversion recovery (B) MRI of patient 1, performed at age 21 years, show thalamic infarction (arrows). (C) 1.5T T2-weighted MRI of patient 2 performed at age 7 years with arrows indicating left and right lacunar pontine infarcts. (D) Bilateral erythematous swelling of both feet at age 21 years. (E–G) Hematoxylin & eosin stain of skin biopsy of foot with intact epidermis (E, white arrow) and including subcutaneous fat (E, black arrow) reveals necrotizing vasculitis with necrosis (arrow in F) and multiple thrombi and fibrin (arrow in G).
See this image and copyright information in PMC

References

    1. Zhou Q, Yang D, Ombrello AK, et al. Early-onset stroke and vasculopathy associated with mutations in ADA2. N Engl J Med 2014;370:911–920. - PMC - PubMed
    1. Navon EP, Pierce SB, Segel R, et al. Mutant adenosine deaminase 2 in a polyarteritis nodosa vasculopathy. N Engl J Med 2014;370:921–931. - PubMed

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