Mitochondrial diseases are a heterogeneous group of disorders caused by defects in intracellular energy production. Due to this heterogeneity, it is not surprising that multiple systematic approaches to diagnosis exist; all of which use a combination of clinical, biochemical and structural criteria. Several distinct syndromes have been recognized with variable clinical and imaging phenotypes, including Leigh's syndrome, Kearns-Sayre syndrome (KSS), mitochondrial encephalopathy with lactic acidosis and strokelike episodes (MELAS). In this exhibit, we discuss imaging morphology of various mitochondrial disease with emphasis on imaging protocol and diagnostic approach. Read More

Meeting name: SPR 2020 Annual Meeting & Postgraduate Course , 2020

Authors: Nikam Rahul, Kandula Ashrith, Krishnan Vijay, Donuru Achala

Keywords: Mitochondrial diseases, Leigh, MELAS

The inner ear anomalies are a complex group of disorders, the radiologic findings of which may be difficult to interpret. This exhibit details the basic embryology of inner ear with stress on correlation of timing of insult or arrest of development to patho-morphology, the classification schema of inner ear anomalies and various salient features aiding in accurate diagnosis. Read More

Meeting name: SPR 2020 Annual Meeting & Postgraduate Course , 2020

Authors: Nikam Rahul, Kandula Ashrith, Kumbhar Sachin, Krishnan Vijay, Donuru Achala

Keywords: Inner Ear, CHARGE Syndrome, Waardenburg Syndrome