Findings on serial MRI in a childhood case of L2-hydroxyglutaric aciduria

We report of a 15-year-old patient who initially presented to the specialist children's hospital with neurologic problems including developmental delay, behavioral difficulty and poor cognition. Upon organic acid testing, the patient received a diagnosis of L2-hydroxyglutaric aciduria (L2HGA). Serial MRI scans were performed throughout the patients childhood, demonstrating an evolution of imaging features as the disease progressed. A radiologist's recognition of the key findings associated with L2HGA can help prompt the diagnosis in cases of a nonspecific clinical presentation. This case report highlights the key radiological features associated with L2HGA, whilst illustrating how these changes may evolve and appear over the time course of a patient's journey.