title: Stroke as Initial Manifestation of Adenosine Deaminase 2 Deficiency.
abstract: Deficiency of adenosine deaminase 2 (ADA2) due to homozygous or compound heterozygous mutations in the cat eye syndrome chromosome region, candidate 1 (CECR1) gene causes an autoimmune phenotype with systemic vasculitis affecting the skin, inner organs, and the central nervous system. Typically, stroke has been reported to follow systemic inflammatory disease and predominantly affects posterior and central brain areas. Here, we describe one of the rare patients in whom acute mesencephalic stroke preceded systemic inflammation and presented as initial clinical symptom. Symptoms typical for ADA2 deficiency such as fever, livedo racemosa, abdominal colics, arthralgias, and Raynaud phenomenon were observed later. Moreover, angiography of cerebral arteries did not reveal typical vasculitic findings supporting the hypothesis that alternative mechanism of vascular occlusion might have caused the stroke. ADA2 deficiency should be considered in patients with childhood stroke despite the absence of systemic inflammation and cerebral vasculitis.
authors.affiliation: Institute of Human Genetics, Medical Faculty, RWTH Aachen University, Aachen, Germany.
authors.forename: Miriam
authors.initials: M
authors.lastname: Elbracht
authors.affiliation: Department of Diagnostic and Interventional Neuroradiology, RWTH University Hospital Aachen, Aachen Germany.
authors.forename: Michael
authors.initials: M
authors.lastname: Mull
authors.affiliation: Department of Pediatrics, RWTH University Hospital Aachen, Aachen, Germany.
authors.forename: Norbert
authors.initials: N
authors.lastname: Wagner
authors.affiliation: Department of Diagnostic and Interventional Radiology, RWTH University Hospital Aachen, Aachen, Germany.
authors.forename: Christiane
authors.initials: C
authors.lastname: Kuhl
authors.affiliation: Medical Genetics Center (MGZ), Munich, Germany.
authors.forename: Angela
authors.initials: A
authors.lastname: Abicht
authors.affiliation: Institute of Human Genetics, Medical Faculty, RWTH Aachen University, Aachen, Germany.
authors.forename: Ingo
authors.initials: I
authors.lastname: Kurth
authors.affiliation: Department of Pediatrics, RWTH University Hospital Aachen, Aachen, Germany.
authors.forename: Klaus
authors.initials: K
authors.lastname: Tenbrock
authors.affiliation: Department of Pediatrics, RWTH University Hospital Aachen, Aachen, Germany.
authors.forename: Martin
authors.initials: M
authors.lastname: Häusler
mesh_terms: D000243:Adenosine Deaminase / Q000172:deficiency* / Q000235:genetics; D001921:Brain / Q000000981:diagnostic imaging; D002545:Brain Ischemia / Q000175:diagnosis / Q000201:enzymology / Q000209:etiology* / Q000235:genetics; D003937:Diagnosis, Differential; D006225:Hand / Q000473:pathology; D006801:Humans; D007223:Infant; D007249:Inflammation / Q000150:complications* / Q000175:diagnosis / Q000201:enzymology / Q000235:genetics; D036341:Intercellular Signaling Peptides and Proteins / Q000172:deficiency* / Q000235:genetics; D007866:Leg / Q000473:pathology; D008297:Male; D020125:Mutation, Missense; D020521:Stroke / Q000175:diagnosis / Q000201:enzymology / Q000209:etiology* / Q000235:genetics
chemical_list: D036341:Intercellular Signaling Peptides and Proteins; C408373:ADA2 protein, human; D000243:Adenosine Deaminase