Rett syndrome in a patient with medium chain acyl-CoA dehydrogenase deficiency |
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| Authors: | R. P. Beekman N. Hofstee J. A. M. Smeitink B. T. Poll-The M. Duran |
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| Affiliation: | (1) Twenteborg Hospital, Almelo, The Netherlands;(2) Wilhelmina Kinderziekenhuis, P.O. Box 18009, 3501 CA Utrecht, The Netherlands |
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| Abstract: | A female patient with medium-chain acyl-CoA dehydrogenase (MCAD) deficiency developed normally until 13 months of age after which she showed a gradual developmental delay, followed by progressive dementia, and a decrease in head circumference growth culminating in the diagnosis of Rett syndrome at 3.5 years. |
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| Keywords: | Rett syndrome MCAD deficiency |
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