Conflicts of interest: None.
Article first published online: 27 JUL 2012
Copyright © 2012 Wiley Periodicals, Inc.
American Journal of Medical Genetics Part A
Volume 158A, Issue 9, pages 2254–2257, September 2012
How to Cite
Crushell, E., O'Leary, D., Irvine, A. D., O'Shea, A., Mayne, P. D. and Reardon, W. (2012), Methylenetetrahydrofolate reductase (MTHFR) deficiency presenting as a rash. Am. J. Med. Genet., 158A: 2254–2257. doi: 10.1002/ajmg.a.35479
Parental consent obtained for publication of case report and photographs.
How to Cite this Article: Crushell E, O'Leary D, Irvine AD, O'Shea A, Mayne PD, Reardon W. 2012. Methylenetetrahydrofolate reductase (MTHFR) deficiency presenting as a rash. Am J Med Genet Part A. 158A:2254–2257.
- Issue published online: 24 AUG 2012
- Article first published online: 27 JUL 2012
- Manuscript Accepted: 19 APR 2012
- Manuscript Received: 21 FEB 2012
- MTHFR deficiency;
- neonatal seizures;
- infantile rash;
We report on the case of a 2-year-old girl recently diagnosed with Methylenetetrahydrofolate reductase (MTHFR) deficiency who originally presented in the neonatal period with a distinctive rash. At 11 weeks of age she developed seizures, she had acquired microcephaly and developmental delay. The rash deteriorated dramatically following commencement of phenobarbitone; both rash and seizures abated following empiric introduction of pyridoxine and folinic acid as treatment of possible vitamin responsive seizures. We postulate that phenobarbitone in combination with MTHFR deficiency may have caused her rash to deteriorate and subsequent folinic acid was helpful in treating the rash and preventing further acute neurological decline as commonly associated with this condition. © 2012 Wiley Periodicals, Inc.