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Start Over Author "Tortora D." Journal american journal of neuroradiology
9 results on '"Tortora D."'

1. Widening the Neuroimaging Features of Adenosine Deaminase 2 Deficiency

Author

Geraldo, A.F., primary, Caorsi, R., additional, Tortora, D., additional, Gandolfo, C., additional, Ammendola, R., additional, Alessio, M., additional, Conti, G., additional, Insalaco, A., additional, Pastore, S., additional, Martino, S., additional, Ceccherini, I., additional, Signa, S., additional, Gattorno, M., additional, Rossi, A., additional, and Severino, M., additional

Published
2021
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9. Widening the Neuroimaging Features of Adenosine Deaminase 2 Deficiency

Author

Sara Signa, Carlo Gandolfo, Isabella Ceccherini, Giovanni Conti, Silvana Martino, A.F. Geraldo, R. Ammendola, Andrea Rossi, Antonella Insalaco, Roberta Caorsi, Domenico Tortora, Mariasavina Severino, Marco Gattorno, M Alessio, Serena Pastore, Geraldo, Af, Caorsi, R, Tortora, D, Gandolfo, C, Ammendola, R, Alessio, M, Conti, G, Insalaco, A, Pastore, S, Martino, S, Ceccherini, I, Signa, S, Gattorno, M, Rossi, A, and Severino, M.

Subjects
Male, Adenosine Deaminase 2 Deficiency, Pathology, medicine.medical_specialty, Disease onset, Adolescent, Adenosine Deaminase, Neuroimaging, 030218 nuclear medicine & medical imaging, 03 medical and health sciences, Basal (phylogenetics), 0302 clinical medicine, Agammaglobulinemia, Humans, Medicine, Radiology, Nuclear Medicine and imaging, Family history, business.industry, Brain, Magnetic Resonance Imaging, Phenotype, Spinal Cord, Female, Severe Combined Immunodeficiency, Tumor necrosis factor alpha, Neurology (clinical), Genetic diagnosis, business, 030217 neurology & neurosurgery
Abstract

SUMMARY: Adenosine deaminase 2 deficiency (OMIM #615688) is an autosomal recessive disorder characterized by a wide clinical spectrum, including small- and medium-sized vessel vasculopathies, but data focusing on the associated neuroimaging features are still scarce in the literature. Here, we describe the clinical neuroimaging features of 12 patients with genetically proven adenosine deaminase 2 deficiency (6 males; median age at disease onset, 1.3 years; median age at genetic diagnosis, 15.5 years). Our findings expand the neuroimaging phenotype of this condition demonstrating, in addition to multiple, recurrent brain lacunar ischemic and/or hemorrhagic strokes, spinal infarcts, and intracranial aneurysms, also cerebral microbleeds and a peculiar, likely inflammatory, perivascular tissue in the basal and peripontine cisterns. Together with early clinical onset, positive family history, inflammatory flares and systemic abnormalities, these findings should raise the suspicion of adenosine deaminase 2 deficiency, thus prompting genetic evaluation and institution of tumor necrosis factor inhibitors, with a potential great impact on neurologic outcome.

Published
2021
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