Methylenetetrahydrofolate reductase (MTHFR) deficiency presenting as a rash.
Affiliation
National Centre for Inherited Metabolic Disorders, Children's University Hospital, Dublin, Ireland. ellen.crushell@cuh.ieIssue Date
2012-09MeSH
Child, PreschoolExanthema
Female
Humans
Methylenetetrahydrofolate Reductase (NADPH2)
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Methylenetetrahydrofolate reductase (MTHFR) deficiency presenting as a rash. 2012, 158A (9):2254-7 Am. J. Med. Genet. AJournal
American journal of medical genetics. Part ADOI
10.1002/ajmg.a.35479PubMed ID
22848014Abstract
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.Language
enISSN
1552-4833ae974a485f413a2113503eed53cd6c53
10.1002/ajmg.a.35479
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