Mitochondrial DNA 10158T>C mutation in a patient with mitochondrial encephalomyopathy with lactic acidosis, and stroke-like episodes syndrome: A case-report and literature review (CARE-complaint)

Abstract

Rationale: Mitochondrial encephalomyopathy with lactic acidosis and stroke- like episodes (MELAS) syndrome is caused by mitochondrial respiratory chain dysfunction and oxidative phosphorylation disorder. It is a rare clinical metabolic disease involved with multiple systems.

Patient concerns: A 22-year-old patient presented with limb convulsion accompanied by loss of consciousness, headache, partial blindness, blurred vision, and so on.

Diagnoses: Brain magnetic resonance imaging showed a high-intensity area in bilateral occipital cortex, left parietal lobe and cerebellum on diffusion-weighted imaging. These focus did not distribute as vascular territory. The pathological examination of skeletal muscle revealed several succinate dehydrogenase reactive vessels with overreaction and increased content of lipid droplets in some muscle fibers. Genetic testing showed that the patient carried m.10158T>C mutation.

Interventions: She was provided with traditional arginine hydrochloride therapy and orally medication of coenzyme Q (10 mg).

Outcomes: Mitochondrial DNA of blood and hair follicle of patient carried m.10158T>C mutation LESSONS:: For the suspected patients of MELAS syndrome, if the hot-spot mutation test is negative, more detection sites should be selected.

Figure 1

Image data of brain. A: The first hospitalization at 19 years old. Brain MRI showed punctiform long T2 and T1 signals at right cerebellar hemisphere and right occipital lobe, unclear boundary and DWI images with hyperintensity. B: At 21 years old. Brain MRI showed gyrus-shape long T1 and T2 abnormal signals at left-side pillow top and FLAIR and DWI images with hyperintensity. Brain MRV and CTA in head and neck showed no obvious abnormity. C: Reexamination after 10-day treatment. Brain MRI showed that gyrus shape long T1 and T2 signals at left occipital parietal lobe was improved. D: Recurrence at 22 years old. Brain MRI showed schistose and patchy signals at cerebellar hemispheres, vermis cerebelli, and right occipital area. MRI = magnetic resonance imaging.

Figure 2

Sanger sequence diagram. Mitochondrial DNA of the patient, detected in serum and hair follicle, carried m.10158T>T/C mutation site. DNA = deoxyribose nucleic acid.