Search results
Results from the WOW.Com Content Network
Infantile epileptic spasms syndrome (IESS) previously known as West syndrome needs the inclusion of epileptic spasms for diagnosis. [1] Epileptic spasms (also known as infantile spasms) may also occur outside of a syndrome (that is, in the absence of hypsarrhythmia and cognitive regression) - notably in association with severe brain disorders (e.g. lissencephaly).
The symptoms of CDD include early infantile onset refractory epilepsy; hypotonia; developmental, intellectual, and motor disabilities, with little or no speech; and cortical visual impairment. [1] Patients usually present first with seizures within the first months of life, followed by infantile spasms which progress to epileptic seizures that ...
Ohtahara syndrome (OS), also known as Early Infantile Developmental & Epileptic Encephalopathy (EIDEE) [2] is a progressive epileptic encephalopathy.The syndrome is outwardly characterized by tonic spasms and partial seizures within the first few months of life, [3] and receives its more elaborate name from the pattern of burst activity on an electroencephalogram (EEG).
Aicardi syndrome is a rare genetic malformation syndrome characterized by the partial or complete absence of a key structure in the brain called the corpus callosum, the presence of retinal lacunes, and epileptic seizures in the form of infantile spasms. [2]
An atypical form of RTT, characterized by infantile spasms or early onset epilepsy, can also be caused by a mutation to the gene encoding cyclin-dependent kinase-like 5 . As stated by Aine Merwick, Margaret O'Brien, and Norman Delanty in an article on gene disorders titled Complex single gene disorders and epilepsy , "Rett syndrome affects one ...
An estimated 30% of patients with infantile epileptic spasm syndrome (formerly called West syndrome) have been reported to progress with LGS. [8] [9] Tonic seizures are the most common and present in nearly everyone with LGS. [10] [11] They occur most frequently during non-REM sleep (90% of the time). They initially last for a minute or less ...
Infantile spasms are best treated with vigabatrin and adrenocorticotropic hormone used as a second-line therapy. Other seizure types have no TSC-specific recommendation, though epilepsy in TSC is typically difficult to treat (medically refractory). Repeat MRI of abdomen every one to three years throughout life. Check renal (kidney) function ...
Patients may develop seizures and/or neuropathological spasms. These presentations of the disease usually progress to mental retardation, microcephaly, blindness, and spasticity. [5] [6] [7] Females with residual pyruvate dehydrogenase activity will have no uncontrollable systemic lactic acidosis and few, if any, neurological symptoms.