One of the etiology of West syndrome is Neurometabolic disease. Symptomathic Infantile Spasm is an important group of Infantile spasm as West Syndrome and Neurometabolic diseases are top lists of these diseases as one of the etiology. Some of these groups of disorders have effective treatment.
"Arching of body" sounds to me like dystonic-dyskinetic movement disorder rather tahn epileptic spasms. Dystonia-Dyskinesia is typical for Glutaric Aciduria Type I and can present very similar to epileptic spasms. Frontotemporal cerebral atrophy with enlarged insula cisterns, general slowing in EEG without epileptic potentials, glutaric acid and 3-OH-glutaric acid in urine are diagnostic keys.
hei, I have a pasient which is boy about 8 years of age an a encephalopathic epilepsy startet the 2. day of live. beside his severe epilepsy and severe developmental delay he has athetotic movement disorders not related to his epileptic seizures.I hove now detected a STXBP1 mutation as reason both for the epilepsy and the movement disorder.
Hi,
In this case, did the child respond entirely or partially to treatment with folinic acid or levetiracetam?
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