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

• DOI: 10.1186/s42269-022-00914-w
• Publication Date: 2022-11-08T08:03:13Z
• Authors: Paolo La Montanara; Annamaria Albergo; Roberto Castellana; Concetta Fiorentini; Caterina Romano; Annalisa Rossiello; Moritz Steinruecke; Giuseppe Vella
• Keywords: Leigh disease; Mitochondrial disease; External ophthalmoplegia

Abstract Background We present the clinical, MRI and CT findings in a case of new mitochondrial genome mutation (tRNA arginine gene), characterized by brain calcifications which are indicative Kearns–Sayre syndrome (KSS). Some radiological features resembled those Fahr’s disease (affecting PDGFRB gene). Case presentation A 36-year-old male presented some typical clinical KSS, including onset before 20 years age, pigmentary retinopathy, progressive external ophthalmoplegia ptosis. However, hallmark finding diffuse nuclear ganglia resembles cases related to PDGRFB mutation. Genetic investigation revealed tRNA-arginine gene. Conclusions Brain common feature diseases, but little is known about their pathophysiology. Here, we describe similarities between DNA other genetic conditions, disease. These could provide insights into putative genotype–phenotype correlations.