Brain & development · 2020
Efficacy of perampanel for epileptic seizures and daily behavior in a patient with Leigh syndrome: A case report.
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Kimura Shuhei, Shiraishi Hideaki, Egawa Kiyoshi, Uchida Masaya, Ueno Michihiko
Аннотация
BACKGROUND: Leigh syndrome (LS) is a mitochondrial disorder that shows abnormal basal ganglia lesion and psychomotor regression. Although vitamins have been used for LS, we have not found any effective drug.
CASE PRESENTATION: A 26-year-old man who showed psychomotor delay and short stature at the age of 1 year was diagnosed with LS according to the results of cerebrospinal fluid and high signal intensity in the bilateral striatum on T2-weighted magnetic resonance imaging. He demonstrated psychomotor delay and breathing disorders, but the progression was very slow. His symptoms suddenly worsened at the age of 24 years after acute epididymitis. He showed epileptic seizures simultaneously and his activities of daily living (ADL) significantly worsened. Several antiepileptic drugs were ineffective, but his seizures were suppressed by a low dose of perampanel and his ADL improved.
CONCLUSION AND DISCUSSION: Our case showed that low-dose perampanel could be a drug for epileptic seizures and improvement of ADL in patients with LS.
CASE PRESENTATION: A 26-year-old man who showed psychomotor delay and short stature at the age of 1 year was diagnosed with LS according to the results of cerebrospinal fluid and high signal intensity in the bilateral striatum on T2-weighted magnetic resonance imaging. He demonstrated psychomotor delay and breathing disorders, but the progression was very slow. His symptoms suddenly worsened at the age of 24 years after acute epididymitis. He showed epileptic seizures simultaneously and his activities of daily living (ADL) significantly worsened. Several antiepileptic drugs were ineffective, but his seizures were suppressed by a low dose of perampanel and his ADL improved.
CONCLUSION AND DISCUSSION: Our case showed that low-dose perampanel could be a drug for epileptic seizures and improvement of ADL in patients with LS.