Teaching NeuroImages: Reversible brain MRI lesions in adult-onset type II citrullinemia

An 18-year-old man presented with recurrent lethargy without triggers for 6 months. Neurologic examinations showed bilateral pyramidal signs. Brain MRI showed bilateral symmetric lesions in the cingulate cortex (figure, A and B). Adult-onset type II citrullinemia was confirmed by hyperammonemia, citrullinemia, and the mutation of the SLC25A13 gene.1 He was treated with low-carbohydrate diets, arginine, and sodium pyruvate but the treatment failed. Finally, the patient underwent liver transplantation, and the symptoms and signs recovered dramatically 2 weeks later. A repeat brain MRI showed the previous lesions nearly resolved (figure, C and D).
Source: Neurology - Category: Neurology Authors: Tags: MRI, Metabolic disease (inherited), Coma RESIDENT AND FELLOW SECTION Source Type: research