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