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Título

NEUROLOGICAL RECOVERY IN MELAS SYNDROME: A CASE REPORT

Apresentação do caso

Female patient, eleven years, presented headache, tremors, and dysarthria and recurrent seizures. Two years earlier, she had been hospitalized due to fever, vomiting, headache, tremors, and nystagmus. Brain MRI at the time showed diffuse vasogenic and cytotoxic edema in the left occipital and parietal lobes. She was treated for encephalitis and discharged. In the family history, her mother died of an astrocytoma at the age of 24.
Brain MRI showed T2-weighted and FLAIR hypersignal, with swelling effect, involving the cortical-subcortical transition of the parietal-occipital-temporal region on the left. The study of proton spectroscopy showed a reduction in the peaks of N-acetyl aspartate, choline, and creatine, with an increase in the peaks of lipids and lactate, suggesting the diagnosis of Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS) syndrome. She was treated with a maintenance dose of L-arginine, Coenzyme Q10, L-carnitine, and creatine. The patient presented with frequent vomiting and significant neurological dysfunction, unable to interact, communicate or walk. Then, L-carnitine and creatine were suspended, and fluoxetine and lamotrigine were started. In the third month, the vomiting episodes ceased and the patient showed significant neurological improvement, being able to walk, talk, eat, paint, and recognize figures.

Discussão

MELAS syndrome is a rare disease, but it is the most common mitochondrial encephalopathy. Occurs by maternal inheritance of pathogenic mtDNA variants, commonly associated with MT-TL1 gene mutations. There is a peak incidence in childhood, around 8 years of age, and another in adults, around 40 years. Clinical manifestations of MELAS include recurrent vomiting, headache, seizures, and neurological changes. Neurologic deficits after stroke-like episodes tend to progress over time to dementia.

Comentários finais

MELAS syndrome is an important differential diagnosis for stroke-like conditions in the pediatric population. Treatment is supportive and rehabilitation is important for patients' neurological recovery and prevention of dementia.

Referências (se houver)

Palavras Chave

Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS) syndrome

Fonte de Fomento (se houver)

Declaração de conflito de interesses de TODOS os autores

não

Área

Erros inatos do metabolismo