Seizures And Epilepsy Flashcards
What is a dialeptic seizure?
One in which the semiology is impaired awareness of, interaction with or memory of ongoing events (consciousness)
What are the two disease phenotypes caused by hypothalamic hamartomas?
Central precocious puberty (CPP)
Epilepsy and neurobehavioral symptoms
How does central precocious puberty present in hypothalamic hamartoma disease?
As early as 2 or 3 years old, without epilepsy or other neurological Sx
Where is the hamartoma found in central precocious puberty?
Anterior hypothalamus - tuber cinereum/pituitary stalk
What does an anterior hypothalamic hamartoma cause?
Central precocious puberty
What is the cause of central precocious puberty or gelastic seizures?
Hypothalamic hamartoma
Where is the hamartoma found in gelastic seizures/neurobehavioral symptoms?
More posteriorly, near mammillary bodies
What is a dacrystic seizure?
One that sounds like crying (like gelastic)
What are the Ramsay Hunt syndrome diseases?
Progressive Myoclonic epilepsy and ataxia
What is Unverricht Lundberg disease?
Baltic/Mediterranean myoclonus
Early onset AR spinocerebellar degeneration
What are the 4 main diseases causing Ramsay Hunt syndrome?
Unverricht-Lundborg disease
Lafora body disease
Neuronal ceroid lipofuscinosis
Sialidosis
What mutation causes Unverricht-Lundborg disease?
EPM1A
What is Lafora body disease?
Adolescent onset AR severe epilepsy, dementia and mild myoclonus
What is the mutation causing Lafora body disease and what are the pathognomic findings?
EPM2A mutation
Periodic acid Schiff-positive inclusions in biopsy
Sx of neuronal ceroid lipofuscinosis?
Epilepsy
Myoclonus
Visual failure
Ataxia
