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Methylenetetrahydrofolate reductase (MTHFR) deficiency presenting as a rash
Author(s) -
Crushell Ellen,
O'Leary Daire,
Irvine Alan D,
O'Shea Anne,
Mayne Philip D,
Reardon William
Publication year - 2012
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.35479
Subject(s) - rash , methylenetetrahydrofolate reductase , folinic acid , medicine , pyridoxine , pediatrics , methotrexate , folic acid , dermatology , chemotherapy , biology , biochemistry , fluorouracil , genotype , gene
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.