Adenosine kinase deficiency presenting with tortuous cervical arteries: A risk factor for recurrent stroke.

Autor: Paz JA; Child Neurology Unit Children's Institute, University of Sao Paulo School of Medicine Sao Paulo Brazil., Embiruçu EK; Medical Genetic Service Professor Edgard Santos University Hospital Salvador Brazil.; Life Sciences Department University of the State of Bahia Salvador Brazil., Bueno C; Child Neurology Unit Children's Institute, University of Sao Paulo School of Medicine Sao Paulo Brazil.; Child Neurology Service, Department of Neurology University of Sao Paulo School of Medicine Sao Paulo Brazil., Ferreira RCCL; Child Neurology Service, Department of Neurology University of Sao Paulo School of Medicine Sao Paulo Brazil., Oliveira FS; Medical Genetic Service Professor Edgard Santos University Hospital Salvador Brazil., Pereira ASS; Medical Genetic Service Professor Edgard Santos University Hospital Salvador Brazil.; Life Sciences Department University of the State of Bahia Salvador Brazil., Schwartz IVD; Child Neurology Service, Department of Neurology University of Sao Paulo School of Medicine Sao Paulo Brazil.; Medical Genetics Service Hospital de Clinicas de Porto Alegre Porto Alegre Brazil., Paiva ARB; Neurogenetics Unit, Department of Neurology University of Sao Paulo School of Medicine Sao Paulo Brazil., Lucato LT; Department of Radiology University of Sao Paulo School of Medicine Sao Paulo Brazil., Kok F; Child Neurology Unit Children's Institute, University of Sao Paulo School of Medicine Sao Paulo Brazil.; Child Neurology Service, Department of Neurology University of Sao Paulo School of Medicine Sao Paulo Brazil.; Mendelics Genomic Analysis Sao Paulo Brazil.
Jazyk: angličtina
Zdroj: JIMD reports [JIMD Rep] 2021 Sep 30; Vol. 62 (1), pp. 49-55. Date of Electronic Publication: 2021 Sep 30 (Print Publication: 2021).
DOI: 10.1002/jmd2.12252
Abstrakt: Adenosine kinase (ADK) deficiency is a very rare inborn error of methionine and adenosine metabolism. It is characterized by developmental delay, hypotonia, epilepsy, facial dysmorphism, failure to thrive, transient liver dysfunction with cholestasis, recurrent hypoglycemia, and cardiac defects. Only 26 cases (16 families) of ADK deficiency have been published since its identification in 2011. Vascular abnormalities in cervical arteries and cerebral stroke have never been reported in this condition. Here, we describe two patients with ADK deficiency and vascular tortuosity leading to stroke in one of them. ADK deficiency is a rare inborn error of methionine metabolism with a complex phenotype that might be associated with cerebrovascular abnormalities and stroke.
Competing Interests: José A. Paz, Emilia K. Embiruçu, Clarissa Bueno, Rafaela C. C. L. Ferreira, Fernanda S. Oliveira, Ane S. S. Pereira, Ida V. D. Schwartz, and Anderson R. B. Paiva declare that they have no conflict of interest. Leandro T. Lucato is associate editor for Neuroimaging in the journal Arquivos de Neuropsiquiatria. Fernando Kok is shareholder of Mendelics Genomic Analysis, São Paulo, Brazil, Molecular laboratory for genetic disorders.
(© 2021 The Authors. JIMD Reports published by John Wiley & Sons Ltd on behalf of SSIEM.)
Databáze: MEDLINE
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