Epileptic and electroencephalographic manifestations of guanidinoacetate-methyltransferase deficiency.
Epileptic Disord
; 15(4): 407-16, 2013 Dec.
Article
em En
| MEDLINE
| ID: mdl-24165373
ABSTRACT
AIM:
Describe the seizure-related manifestations of guanidinoacetate methyltransferase (GAMT) deficiency in two new cases and compare these to the related literature.METHODS:
We reviewed the clinical and electroencephalographic manifestations of two siblings with GAMT deficiency. We also performed a thorough literature review of all cases of GAMT deficiency, using the PubMed database, and compared our findings to those previously reported.RESULTS:
One sibling presented with Lennox-Gastaut syndrome while the second had manifestations of late-onset West syndrome. Based on a literature search, we found that the clinical picture of GAMT deficiency has been described in a total of 58 cases, including our two patients, 45 of whom had at least some description of EEG and/or seizure manifestation. Epilepsy was present in 81%, with age at onset usually between 10 months and 3 years. Drug resistance was observed in approximately 45%. Initial seizures were febrile, tonic, or tonic-clonic. Drop attacks and generalised seizures were the most frequent seizure type. Absence and febrile seizures also occurred. Less frequently, focal seizures and late-onset infantile spasms (one prior case) were observed. Multifocal spikes and generalised <3-Hz-spike slow waves were common while only one prior single case report of hypsarrhythmia was described. Lennox-Gastaut syndrome was common, while progressive myoclonic epilepsy was also, less frequently, reported.CONCLUSIONS:
To our knowledge, this is the second report of the occurrence of West syndrome in GAMT deficiency. The majority of patients with GAMT deficiency have seizures and approximately half are drug-resistant. Late-onset of hypsarrhythmia and/or epileptic spasms could potentially prove to be a distinctive, albeit infrequent, feature of this treatable metabolic disorder.Palavras-chave
Texto completo:
1
Base de dados:
MEDLINE
Assunto principal:
Espasmos Infantis
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Eletroencefalografia
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Epilepsia
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Guanidinoacetato N-Metiltransferase
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Transtornos do Desenvolvimento da Linguagem
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Deficiência Intelectual
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Transtornos dos Movimentos
Tipo de estudo:
Diagnostic_studies
Limite:
Female
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Humans
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Infant
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Male
Idioma:
En
Ano de publicação:
2013
Tipo de documento:
Article