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Methylenetetrahydrofolate reductase (MTHFR) deficiency presenting as a rash.
MedLine Citation:
PMID:  22848014     Owner:  NLM     Status:  Publisher    
Abstract/OtherAbstract:
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.
Authors:
Ellen Crushell; Daire O'Leary; Alan D Irvine; Anne O'Shea; Philip D Mayne; William Reardon
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Publication Detail:
Type:  JOURNAL ARTICLE     Date:  2012-7-27
Journal Detail:
Title:  American journal of medical genetics. Part A     Volume:  -     ISSN:  1552-4833     ISO Abbreviation:  -     Publication Date:  2012 Jul 
Date Detail:
Created Date:  2012-7-31     Completed Date:  -     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  101235741     Medline TA:  Am J Med Genet A     Country:  -    
Other Details:
Languages:  ENG     Pagination:  -     Citation Subset:  -    
Copyright Information:
Copyright © 2012 Wiley Periodicals, Inc.
Affiliation:
National Centre for Inherited Metabolic Disorders, Children's University Hospital, Dublin, Ireland. ellen.crushell@cuh.ie.
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