title: Methylenetetrahydrofolate reductase (MTHFR) deficiency presenting as a rash.
abstract: 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.
authors: National Centre for Inherited Metabolic Disorders, Children's University Hospital, Dublin, Ireland. ellen.crushell@cuh.ie
authors: Ellen
authors: E
authors: Crushell
authors: Daire
authors: D
authors: O'Leary
authors: Alan D
authors: AD
authors: Irvine
authors: Anne
authors: A
authors: O'Shea
authors: Philip D
authors: PD
authors: Mayne
authors: William
authors: W
authors: Reardon
mesh_terms: D002675:Child, Preschool; D005076:Exanthema / Q000175:diagnosis* / Q000201:enzymology / Q000209:etiology; D005260:Female; D006801:Humans; D042965:Methylenetetrahydrofolate Reductase (NADPH2) / Q000172:deficiency*
chemical_list: D042965:Methylenetetrahydrofolate Reductase (NADPH2)