Cerebral folate deficiency (CFD): management
Evidence-based neurology checklist on cerebral folate deficiency (cfd): management: Blood tests Serum folate Megaloblastic anaemia Cerebrospinal fluid (CSF) analysis Brain imaging: features Electroencephalogram (EEG): features Treatment
Blood tests
- Serum folate
- Megaloblastic anaemia
Cerebrospinal fluid (CSF) analysis
Brain imaging: features
Electroencephalogram (EEG): features
Treatment
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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