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
Case Report of Pyruvate Dehydrogenase Deficiency With Unusual Increase of Fats During Ketogenic Diet Treatment / Di Pisa V; Cecconi I; Gentile V; Di Pietro E; Marchiani V; Verrotti A; Franzoni E. - In: JOURNAL OF CHILD NEUROLOGY. - ISSN 0883-0738. - STAMPA. - 28:(2012), pp. 1-4. [10.1177/0883073812436424]
Case Report of Pyruvate Dehydrogenase Deficiency With Unusual Increase of Fats During Ketogenic Diet Treatment
GENTILE, VALENTINA;MARCHIANI, VALENTINA;FRANZONI, EMILIO
2012
Abstract
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 intakeI documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.