William Reardon

Publications (2)4.27 Total impact

• Article: Methylenetetrahydrofolate reductase (MTHFR) deficiency presenting as a rash.

  Ellen Crushell, Daire O'Leary, Alan D Irvine, Anne O'Shea, Philip D Mayne, William Reardon
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  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.
  American Journal of Medical Genetics Part A 07/2012; 158A(9):2254-7. · 2.39 Impact Factor
• Article: Elevated TSH levels in a mentally retarded boy.

  Ellen Crushell, William Reardon
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  ABSTRACT: The Allan-Herndon-Dudley syndrome (AHDS;MIM 300523) of X-linked mental retardation and hypotonia is caused by mutations in a thyroid hormone transporter gene--the monocarboxylate transporter 8 (MCT8 also known as SLC16A2) gene. A 23-month-old boy with severe developmental delay, hypotonia, recurrent emesis, and irritability is described. He was diagnosed with hypothyroidism at the age of 4 months. However, T3 level was elevated. Molecular analysis of the MCT8 gene detected a single base duplication in exon 5 c.1614dupC (p.Ile539fs), consistent with a diagnosis of AHDS. While T3 is the best marker for this disorder, elevations in TSH should alert to the diagnosis.
  European Journal of Pediatrics 11/2009; 169(5):573-5. · 1.88 Impact Factor