Cerebral folate deficiency: a treatable cause of late deterioration in epilepsy with developmental delay.
Pract Neurol
; 24(1): 56-59, 2024 Jan 23.
Article
em En
| MEDLINE
| ID: mdl-38135499
ABSTRACT
A 25-year-old woman with childhood-onset refractory epilepsy and developmental delay experienced a gradually progressive marked deterioration in mobility and seizure control, with language regression. Investigation identified a homozygous deletion within the contactin-associated protein-like 2 gene (CNTNAP2), underlying her early presentation, but also cerebral folate deficiency that most likely contributed to her later deterioration. Following antiseizure medication adjustment and treatment with folinic acid, she stabilised with improved seizure control and limited improvement in language and motor function; she has remained neurologically stable for more than a decade. That the previously observed neurological decline was halted by folinic acid replacement supports this being due to cerebral folate deficiency. Metabolic conditions are less well recognised in adults and can be under-diagnosed. They are potentially treatable and should be considered even in the presence of another cause, particularly when the presentation is not fully compatible.
Palavras-chave
Texto completo:
1
Base de dados:
MEDLINE
Assunto principal:
Distrofias Neuroaxonais
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Epilepsia
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Receptor 1 de Folato
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Deficiência de Ácido Fólico
Limite:
Adult
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Child
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Female
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Humans
Idioma:
En
Revista:
Pract Neurol
Ano de publicação:
2024
Tipo de documento:
Article
País de afiliação:
Reino Unido