Nikam Rahul,  Kandula Ashrith,  Krishnan Vijay,  Donuru Achala

Final Pr. ID: Poster #: EDU-047

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

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

Keywords:  Mitochondrial diseases, Leigh, MELAS

Patel Rajan

Final Pr. ID: Poster #: EDU-066

(1) To review basic pathophysiology of the Mitochondria and Energy Production.
(2) To review Genetic and Inheritance patterns of Primary Mitochondrial Disorders, primarily affecting Central
Nervous System (CNS).
(3) To discuss the role of MR imaging in the evaluation of Pediatric Neuromitochondrial Disorders.
(4) To review imaging patterns of the Pediatric Neuromitochondrial Disorders with several illustrative examples. Read More

Authors:  Patel Rajan

Keywords:  Brain MRI, Mitochondrial Disease

Mendoza Venegas Diego,  Herrera Ernesto,  Rodríguez Garza Claudia,  Elizondo Riojas Guillermo

Final Pr. ID: Poster #: CR-054

Mitochondrial Encephalomyopathy with Lactic Acidosis and Stroke-like Episodes (MELAS) is a rare mitochondrial disorder primarily affecting children and young adults, typically presenting between the ages of 2 and 40. It is characterized by tRNA mutations that lead to deficiencies in respiratory chain protein complexes, resulting in disrupted intracellular energy production and impaired cellular function. Common clinical manifestations include stroke-like episodes, hemiparesis, seizures, recurrent headaches, and muscle weakness, with progressive cerebral atrophy and cognitive decline occurring over time. Diagnosis often relies on magnetic resonance imaging (MRI), which frequently shows cortical lesions that do not follow vascular territories.
This case report details an 11-year-old girl who presented in early 2023 with severe new-onset headaches and blurred vision. After multiple consultations with pediatricians and neurologists, a brain MRI was ordered, revealing chronic stroke-like lesions in various regions, predominantly in the posterior brain, along with calcified basal ganglia and a lactate doublet on spectroscopy. Lactic acidosis was detected, and genetic testing confirmed MELAS syndrome due to a mutation in the MT-TL1 gene (m.3243A>G). Following her diagnosis, she began treatment with Coenzyme Q10, L-Arginine, and L-Carnitine. However, earlier this year, she was hospitalized again due to right-sided hemiparesis. A follow-up MRI showed a new stroke-like lesion in the left precentral gyrus, characterized by cortical diffusion restriction and high signal intensity on the FLAIR sequence, exemplifying the characteristic migrating stroke-like lesions associated with MELAS. In conclusion, this case highlights the critical importance of early recognition and diagnosis of MELAS, a rare mitochondrial disorder characterized by complex neurological manifestations. Key MRI findings, including stroke-like lesions that migrate without adhering to vascular territories, a lactate doublet on MR spectroscopy, and calcified basal ganglia, are vital for diagnosis. Ultimately, confirming the diagnosis through genetic testing is essential for effective management and treatment. Read More

Authors:  Mendoza Venegas Diego , Herrera Ernesto , Rodríguez Garza Claudia , Elizondo Riojas Guillermo

Keywords:  Mitochondrial Disease, Neuroradiology, Brain MRI