Neurolipidoses may present neurological and cognitive disturbances. Adult neurolipidose diagnosis may be difficult to establish. We report a problematic case of Kufs' disease in a 20 years old female affected by severe and progressive cognitive changes, gait disturbances myoclonic and tonic-clonic seizures. EEG findings, characterized by spike and wave complexes in posterior regions as a unusually marked photodriving response at low and high flash frequencies, may guide clinicians toward a confirmative diagnosis and distinguish various phenotypes of this disorder.
Importance of intermittent light stimulation (ILS) response in the diagnosis of adult ceroid lipofuscinosis [Ruolo del pattern di risposta alla SLI nella diagnosi di ceroidolipofuscinosi nell'adulto]
SOFIA, Vito
2004-01-01
Abstract
Neurolipidoses may present neurological and cognitive disturbances. Adult neurolipidose diagnosis may be difficult to establish. We report a problematic case of Kufs' disease in a 20 years old female affected by severe and progressive cognitive changes, gait disturbances myoclonic and tonic-clonic seizures. EEG findings, characterized by spike and wave complexes in posterior regions as a unusually marked photodriving response at low and high flash frequencies, may guide clinicians toward a confirmative diagnosis and distinguish various phenotypes of this disorder.File in questo prodotto:
Non ci sono file associati a questo prodotto.
I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.
