Ketogenic recipes used for difficult to treat seizures. Children with seizures from infancy through the adult years may be helped by the diet.
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What are infantile spasms?
Infantile spasms are a specific type of epilepsy syndrome that usually begins in infancy. Infantile spasms are (IS) typically observed between 3-8 months of age. The seizures primarily consist of a sudden bending forward of the body with stiffening of the arms and legs; some children arch their backs as they extend their arms and legs. More than half of children with IS will develop other types of seizures. There appears to be a close relationship between IS and Lennox-Gastaut Syndrome, an epilepsy syndrome of later childhood.
What is West syndrome?
West Syndrome is characterized by three conditions; 1) infantile spasms, 2) developmental regression, and 3) a specific pattern on electroencephalography (EEG) testing called hypsarrhythmia (chaotic brain waves).
What is the treatment for infantile spasms?
A steroid called adrenocorticotropic hormone (ACTH) is the standard drug that is used to treat infantile spasms. This medication can have serious side-effects and is therefore limited to shortterm use. Recent evidence has shown that the ketogenic diet is not only more effective than ACTH but has fewer side-effects and better long-term success. Researchers at Johns Hopkins compared infants with new-onset infantile spasms who were treated with the ketogenic diet to those who were treated with ACTH. The ketogenic diet stopped spasms in nearly two-thirds of cases, and there were fewer side effects and relapses than those treated with ACTH. In addition, the cost of ACTH in 2009 is approximately $8000 each day. The cost of a ketogenic formula for an infant is less than $15 each day. The ketogenic diet is now offered as a first-line therapy to parents whose children have been diagnosed with new-onset infantile spasms at John's Hopkins Hospital in Baltimore, Maryland. Epilepsia, 2008,49(9)1504-09.
To learn more about infantile spasms and to enroll in a study that will help to better diagnose and treat this syndrome visit: http://infantilespasms.wustl.edu
What is pyruvate dehydrogenase complex deficiency (PDCD)?
PDCD is a problem within the energy making cells of the brain called mitochondria. The mitochondria make energy for other cells to grow and develop. Mitochondria need many enzymes in order to work properly. In this disorder, an enzyme is not available in adequate amounts to help make energy.
Is it contagious?
PDCD is not contagious. It is passed on through recessive genes. Genes come in pairs. Recessive inheritance means both genes in a pair must be defective to cause a condition. People with only one defective gene in the pair are considered carriers. However, they can pass the abnormal gene to their children.
How is it diagnosed?
A blood level of lactate and pyruvate will be elevated (although these may be elevated in other conditions). Blood and urine levels of certain proteins called amino acids may also be elevated. Another compound in the blood called ammonia may be elevated, especially during illness. Imaging studies such as an MRI can show structure problems in the brain.
What are the symptoms?
Symptoms usually start in infancy but may start at birth or in later childhood. These symptoms may include developmental delay, poor muscle tone, abnormal eye movements, difficulty walking and seizures.
Is this syndrome common?
PDH is considered a rare condition but one of the most common neurodegenerative disorders that is related to a problem in the mitochondria's ability to make energy.
What is the treatment?
According to a recent publication in 2008 by a group of medical experts, the Ketogenic Diet is the treatment of choice for PDCD. More information about this diet can be found under the FAQ link of our web-site:charliefoundation.org.
What benefits can be expected if the ketogenic diet is started?
Increased alertness and ability to learn are usually experienced soon after starting the ketogenic diet. Detecting this disorder early is the key to helping the brain receive the energy it needs to grow and to develop.