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Treatable Form of Epilepsy Often Not Diagnosed

Mon Jun 24, 2002

By Hannah Cleaver

BERLIN (Reuters Health) - A recently discovered form of epilepsy can be successfully treated with a special high-fat diet, but many adults with the condition are not being properly diagnosed, researchers said on Monday.

GLUT 1 deficiency syndrome epilepsy, only recognized in 1999, occurs when sugars cannot reach the brain from the blood, which starves brain cells.

Dr. Joerg Klepper from Essen University presented his team's latest work on the subject to the 12th meeting of the European Neurological Society here. He said the problem was probably hugely under-diagnosed across Europe, particularly among adults.

"There are 38 patients we know of in Europe," he told delegates. "There are 24 of them in Germany alone. It must be true that there are other patients out there. We only know of four adults for example."

Children with the condition develop symptoms--usually within the first year of life--including seizures and various degrees of developmental delay, as well as complex movement problems.

Klepper said the blocked transmission of glucose into the brain could be bypassed by offering brain cells alternative sustenance--fats, which use a different route into the brain. He said patients placed on a high fat, low carbohydrate diet stopped having seizures within a few weeks. "We recommend this diet through pre-school and school and stopping at adolescence," he added.

But the condition can only be diagnosed from cerebrospinal fluid, not from blood samples, Klepper said.

"Every child with epilepsy deserves a lumbar puncture to rule out this treatable form of epilepsy," he added.

Klepper told Reuters Health that work is underway on cookbooks and other dietary aids to help make a high fat, low carbohydrate diet more attractive for children and more manageable for parents.

"We are working on ways to make the diet more edible for children, but we also find that parents who see the initial results--the fits subsiding and disappearing--after just a couple of weeks are keen to continue with the dietary treatment," he said.

SOURCE: 12th meeting of the European Neurological Society

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