دورية أكاديمية
Cerebral folate deficiency: a treatable cause of late deterioration in epilepsy with developmental delay.
| العنوان: | Cerebral folate deficiency: a treatable cause of late deterioration in epilepsy with developmental delay. |
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| المؤلفون: | Chowdhury FA; Neurology, National Hospital for Neurology and Neurosurgery, London, UK., Sokolov E; Department of a Clinical Neurophysiology, Guy's and St Thomas' Hospitals NHS Trust, London, UK elisaveta.sokolov@nhs.net.; Department of Neurosciences, Cleveland Clinic London Hospital, London, UK., Anderson J; Department of Medicine, Logan Hospital, Queensland, Australia, Logan Hospital, Loganholme, Queensland, Australia., Josifova DJ; Department of Clinical Genetics, Guy's and St Thomas' NHS Trust, London, UK., Nashef L; Department of Neurology, King s College Hospital, London, UK. |
| المصدر: | Practical neurology [Pract Neurol] 2024 Jan 23; Vol. 24 (1), pp. 56-59. Date of Electronic Publication: 2024 Jan 23. |
| نوع المنشور: | Case Reports; Journal Article |
| اللغة: | English |
| بيانات الدورية: | Publisher: BMJ Pub. Group Country of Publication: England NLM ID: 101130961 Publication Model: Electronic Cited Medium: Internet ISSN: 1474-7766 (Electronic) Linking ISSN: 14747758 NLM ISO Abbreviation: Pract Neurol Subsets: MEDLINE |
| أسماء مطبوعة: | Publication: Feb. 2006- : London : BMJ Pub. Group Original Publication: 2001-2005 : Oxford, UK : Blackwell Science, |
| مواضيع طبية MeSH: | Folic Acid Deficiency*/diagnosis , Folic Acid Deficiency*/drug therapy , Folic Acid Deficiency*/genetics , Epilepsy* , Neuroaxonal Dystrophies*, Folate Receptor 1/*deficiency, Adult ; Female ; Humans ; Child ; Leucovorin/genetics ; Leucovorin/therapeutic use ; Homozygote ; Sequence Deletion ; Seizures |
| مستخلص: | 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. Competing Interests: Competing interests: None declared. (© Author(s) (or their employer(s)) 2024. No commercial re-use. See rights and permissions. Published by BMJ.) |
| فهرسة مساهمة: | Keywords: CLINICAL NEUROLOGY; EPILEPSY |
| المشرفين على المادة: | Q573I9DVLP (Leucovorin) 0 (Folate Receptor 1) |
| SCR Disease Name: | Neurodegeneration Due To Cerebral Folate Transport Deficiency |
| تواريخ الأحداث: | Date Created: 20231222 Date Completed: 20240125 Latest Revision: 20240125 |
| رمز التحديث: | 20240125 |
| DOI: | 10.1136/pn-2023-003727 |
| PMID: | 38135499 |
| قاعدة البيانات: | MEDLINE |
Full Text Finder | تدمد: | 1474-7766 |
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| DOI: | 10.1136/pn-2023-003727 |