Case report of pyruvate dehydrogenase deficiency with unusual increase of fats during ketogenic diet treatment.

Veronica Di Pisa, Ilaria Cecconi, Valentina Gentile, Elena Di Pietro, Valentina Marchiani, Alberto Verrotti, Emilio Franzoni

Child Neuropsychiatric Unit, Polyclinic S. Orsola-Malpighi, University of Bologna, Bologna, Italy.

Journal of child neurology 2012 Dec

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This article describes a case of pyruvate dehydrogenase deficiency in a 3-year-old boy who presented generalized hypotonia, severe psychomotor development delay, and generalized and partial seizures and was refractory to antiepileptic drugs. After the diagnosis, the patient was put on a ketogenic diet. Six months later, seizure frequency was reduced and psychomotor development had improved. At the same time he presented some side effects, such as 2 episodes of significant increases in cholesterol and triglycerides associated with viral respiratory infections. The latter decreased with a supplementation of ω-3 fatty acids and an increase in caloric intake.

Citation

Veronica Di Pisa, Ilaria Cecconi, Valentina Gentile, Elena Di Pietro, Valentina Marchiani, Alberto Verrotti, Emilio Franzoni. Case report of pyruvate dehydrogenase deficiency with unusual increase of fats during ketogenic diet treatment. Journal of child neurology. 2012 Dec;27(12):1593-6