Use of Perampanel and a Ketogenic Diet in Nonketotic Hyperglycinemia: A Case Report.
Neuropediatrics
; 51(6): 417-420, 2020 12.
Article
em En
| MEDLINE
| ID: mdl-32176929
ABSTRACT
BACKGROUND:
Nonketotic hyperglycinemia is a severe form of early onset epileptic encephalopathy caused by disturbances in the glycine cleavage system; the neurological damage is mainly attributed to overstimulation of the N-methyl-D-aspartate receptor. CASE The patient presented with a severe form of nonketotic hyperglycinemia and experienced frequent epileptic spasms and focal seizures, which were resistant to vigabatrin, adrenocorticotropic hormone therapy, and combined dextromethorphan and sodium benzoate treatments. By 9 months of age, perampanel reduced epileptic spasms by >50%. At 14 months of age, the ketogenic diet markedly reduced focal seizures and glycine levels in the cerebrospinal fluid.CONCLUSION:
Perampanel reduced fast excitatory neuronal activity, which was induced by an α-amino-3-hydroxy-5-methyl-4-isoxazole propionic acid receptor, followed by prolonged electrical depolarizations due to an N-methyl-D-aspartate receptor. Furthermore, the ketogenic diet may have modulated the excessive neurotoxic cascade through the N-methyl-D-aspartate receptor. Perampanel and ketogenic diet were effective for seizure control in our patient.
Texto completo:
1
Base de dados:
MEDLINE
Assunto principal:
Piridonas
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Hiperglicinemia não Cetótica
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Dieta Cetogênica
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Anticonvulsivantes
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Nitrilas
Limite:
Humans
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Infant
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Male
Idioma:
En
Ano de publicação:
2020
Tipo de documento:
Article