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Multimodal imaging-monitored progression of stroke-like episodes in a case of MELAS syndrome
Izzie Jacques Namer1, Valérie Wolff, Jean-Louis Dietemann
1From the *Service de Biophysique et Médecine Nucléaire, †Unité de Neuro-vasculaire, and ‡Service de Radiologie, Hôpital de Hautepierre, Hôpitaux Universitaires de Strasbourg, Strasbourg; and §Université de Strasbourg/CNRS, UMR 7237, Strasbourg, France.
Abstract:
We report imaging findings during, between, and after 2 stroke-like episodes in a 45-year-old woman with mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) syndrome with an A32243G mitochondrial mutation 6 years before. In November 2010, for a first episode, she showed mixed aphasia with logorrhea, disinhibition, agitation, euphoria, and a large left temporoparietal lesion. Symptomatology progressively regressed under L-arginine treatment. She was readmitted in June 2011 for a second episode with great anxiety, disorientation, impaired face recognition, worsening mixed aphasia, and a new right temporal lesion. After additional L-carnitine treatment, she remained without relapse for 14 months.
Insights
This case study details imaging in a MELAS syndrome patient experiencing two stroke-like episodes. L-arginine and L-carnitine treatments showed potential in managing symptoms and preventing relapses.
Area of Science:
- Neurology
- Mitochondrial Diseases
- Neuroimaging
Background:
- Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) syndrome is a rare genetic disorder.
- The A32243G mitochondrial mutation is associated with MELAS syndrome.
- Stroke-like episodes are a common manifestation of MELAS.
Observation:
- A 45-year-old woman with MELAS and the A32243G mutation presented with two distinct stroke-like episodes over a year.
- Initial episode: left temporoparietal lesion with aphasia, disinhibition, agitation, and euphoria, improving with L-arginine.
- Second episode: right temporal lesion with anxiety, disorientation, impaired face recognition, and worsening aphasia, managed with L-carnitine.
Findings:
- Neuroimaging revealed distinct temporoparietal lesions corresponding to the stroke-like episodes.
- Clinical presentation varied between episodes, including cognitive and linguistic deficits.
- Treatment with L-arginine and L-carnitine appeared to correlate with symptom improvement and relapse prevention.
Implications:
- This case highlights the utility of neuroimaging in diagnosing and monitoring MELAS-related stroke-like episodes.
- The findings suggest potential therapeutic benefits of L-arginine and L-carnitine in managing MELAS.
- Further research into mitochondrial mutation-specific treatments for MELAS is warranted.
