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dc.contributor.authorCrushell, Ellen
dc.contributor.authorO'Leary, Daire
dc.contributor.authorIrvine, Alan D
dc.contributor.authorO'Shea, Anne
dc.contributor.authorMayne, Philip D
dc.contributor.authorReardon, William
dc.date.accessioned2012-11-16T16:02:07Z
dc.date.available2012-11-16T16:02:07Z
dc.date.issued2012-09
dc.identifier.citationMethylenetetrahydrofolate reductase (MTHFR) deficiency presenting as a rash. 2012, 158A (9):2254-7 Am. J. Med. Genet. Aen_GB
dc.identifier.issn1552-4833
dc.identifier.pmid22848014
dc.identifier.doi10.1002/ajmg.a.35479
dc.identifier.urihttp://hdl.handle.net/10147/252482
dc.description.abstractWe 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.
dc.language.isoenen
dc.rightsArchived with thanks to American journal of medical genetics. Part Aen_GB
dc.subject.meshChild, Preschool
dc.subject.meshExanthema
dc.subject.meshFemale
dc.subject.meshHumans
dc.subject.meshMethylenetetrahydrofolate Reductase (NADPH2)
dc.titleMethylenetetrahydrofolate reductase (MTHFR) deficiency presenting as a rash.en_GB
dc.contributor.departmentNational Centre for Inherited Metabolic Disorders, Children's University Hospital, Dublin, Ireland. ellen.crushell@cuh.ieen_GB
dc.identifier.journalAmerican journal of medical genetics. Part Aen_GB
dc.description.provinceLeinsteren
html.description.abstractWe 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.


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