Neuroradiological findings in a young patient bearing a new single mitochondrial gene mutation (case report)

Neuroradiological findings in a young patient bearing a new single mitochondrial gene mutation (case report)

Abstract Background We present the clinical, MRI and CT findings in a case of a new mitochondrial genome mutation (tRNA arginine gene), characterized by brain calcifications which are indicative of Kearns–Sayre syndrome (KSS). Some radiological features resembled those of Fahr’s disease (affecting t...

Full description

Bibliographic Details
Main Authors: Paolo La Montanara, Annamaria Albergo, Roberto Castellana, Concetta Fiorentini, Caterina Romano, Annalisa Rossiello, Moritz Steinruecke, Giuseppe Vella
Format: Article
Language:English
Published: SpringerOpen 2022-11-01
Series:Bulletin of the National Research Centre
Subjects:
Kearns–Sayre syndrome
Mitochondriopathy
Basal ganglia
Brain calcifications
Case report
Online Access:https://doi.org/10.1186/s42269-022-00914-w

Internet

https://doi.org/10.1186/s42269-022-00914-w

Similar Items