Intractable seizures, developmental delay, and the ketogenic diet. Semin Pediatr Neurol 2008 Dec;15(4):209-11
Date
12/17/2008Pubmed ID
19073329DOI
10.1016/j.spen.2008.10.012Scopus ID
2-s2.0-57349142401 (requires institutional sign-in at Scopus site) 4 CitationsAbstract
Glucose transporter type 1 (GLUT1) deficiency syndrome is a rare, treatable cause of developmental delay and seizures. It must be considered in the differential diagnosis of infants with intractable seizures. The finding of a low glucose level in the cerebrospinal fluid with normal level in the blood in the absence of pleocytosis or other cerebrospinal fluid abnormalities identifies the condition. Genetic analysis for confirmation is available. Treatment with antiepileptic medications often is unsuccessful, and the ketogenic diet is the favored treatment for seizure control. Early identification and initiation of treatment may prevent or lessen the severity of developmental delay.
Author List
Harris ML, Patel H, Garg BPAuthor
Hema Patel MD Professor in the Neurology department at Medical College of WisconsinMESH terms used to index this publication - Major topics in bold
ChildDevelopmental Disabilities
Diet, Ketogenic
Female
Glucose
Glucose Transporter Type 1
Humans
Infant
Male
Seizures
Syndrome
