Ischaemic cerebral small vessel disease caused by adenosine deaminase 2 deficiency syndrome.

Autor: Giossi A; U.O. Neurologia, Istituti Ospitalieri, ASST Cremona, Cremona, Italy., Giliani SC; Angelo Nocivelli Institute for Molecular Medicine, Department of Molecular and Translational Medicine, University of Brescia, Brescia, Italy., Gamba M; Stroke Unit, Vascular Neurology, Department of Neurological Sciences and Vision, ASST Spedali Civili Brescia, Brescia, Italy., Toniati P; Rheumatology and Clinical Immunology Unit, ASST Spedali Civili Brescia, Brescia, Italy., Magoni M; Stroke Unit, Vascular Neurology, Department of Neurological Sciences and Vision, ASST Spedali Civili Brescia, Brescia, Italy., Pezzini A; Department of Clinical and Experimental Sciences, Neurology Clinic, University of Brescia, Brescia, Italy.
Jazyk: angličtina
Zdroj: European journal of neurology [Eur J Neurol] 2023 Apr; Vol. 30 (4), pp. 1148-1151. Date of Electronic Publication: 2023 Feb 07.
DOI: 10.1111/ene.15708
Abstrakt: Background and Purpose: Only a small proportion of cerebral small vessel disease (cSVD), a frequent cause of stroke and cognitive or motor disability in adults, is attributable to monogenic conditions. The hereditary nature of a patient's cSVD may be masked by a mild or non-informative phenotype, as single-gene disorders have a variable mode of presentation, penetrance and disease severity.
Case Description: An adult patient is here described with recurrent acute ischaemic strokes due to cSVD with no other phenotypic manifestation, in whom the pathogenic c.139G>A (p.G47R) missense variant in ADA2 (NM_001282225.2), consistent with the diagnosis of adenosine deaminase 2 deficiency syndrome, was detected by targeted next-generation sequencing.
Conclusions: Clinical suspicion of adenosine deaminase 2 deficiency syndrome may be overlooked in stroke patients in whom other specific disease features are lacking. This case enlarges the mode of presentation of the syndrome and highlights the diagnostic potential of next-generation sequencing of known cSVD genes in young adults with recurrent small subcortical infarcts presenting with a lacunar syndrome.
(© 2023 European Academy of Neurology.)
Databáze: MEDLINE
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