Cerebral folate deficiency (CFD): management
Written and reviewed by Dr Ibrahim Imam, Consultant Neurologist. Last reviewed .
Cerebral folate deficiency (CFD): management. Serum folate, Megaloblastic anaemia. Fully referenced neurology checklist.
Blood tests
- Serum folate
- Megaloblastic anaemia
Cerebrospinal fluid (CSF) analysis
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Brain imaging: features
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Electroencephalogram (EEG): features
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Treatment
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References
- Ramaekers V, Sequeira JM, Quadros EV. Clinical recognition and aspects of the cerebral folate deficiency syndromes. Clin Chem Lab Med 2013; 51:497-511.
- Ramaekers VT, Blau N. Cerebral folate deficiency. Dev Med Child Neurol 2004; 46:843-851.
- Hyland K, Shoffner J, Heales SJ. Cerebral folate deficiency. J Inherit Metab Dis 2010; 33:563-570.
- Gordon N. Cerebral folate deficiency. Dev Med Child Neurol 2009; 51:180-182.
- Leuzzi V, Mastrangelo M, Celato A, Carducci C, Carducci C. A new form of cerebral folate deficiency with severe self-injurious behaviour. Acta Paediatr 2012; 101:e482-e483.
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