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 intake.
journal_name
J Child Neuroljournal_title
Journal of child neurologyauthors
Di Pisa V,Cecconi I,Gentile V,Di Pietro E,Marchiani V,Verrotti A,Franzoni Edoi
10.1177/0883073812436424subject
Has Abstractpub_date
2012-12-01 00:00:00pages
1593-6issue
12eissn
0883-0738issn
1708-8283pii
0883073812436424journal_volume
27pub_type
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