Open AccessAdenosine kinase deficiency presenting with tortuous cervical arteries: A risk factor for recurrent stroke
Author(s) -
Paz José A.,
Embiruçu Emilia K.,
Bueno Clarissa,
Ferreira Rafaela C. C. L.,
Oliveira Fernanda S.,
Pereira Ane S. S.,
Schwartz Ida V. D.,
Paiva Anderson R. B.,
Lucato Leandro T.,
Kok Fernando
Publication year - 2021
Publication title -
jimd reports
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.412
H-Index - 25
ISSN - 2192-8312
DOI - 10.1002/jmd2.12252
Subject(s) - medicine , inborn error of metabolism , stroke (engine) , hypotonia , adenosine kinase , failure to thrive , epilepsy , cardiology , pediatrics , adenosine , endocrinology , adenosine deaminase , mechanical engineering , psychiatry , engineering
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.