RESUMO
The aim of this study was to describe in detail the neurological features of nine patients carrying the recently reported microduplication at Xp11.22-11.23. Clinical and neurological examination, brain magnetic resonance imaging (except for two patients), electroencephalography and a neuropsychological assessment specific for language disturbances were performed in nine patients with microduplication at Xp11.22-11.23, disclosed by comparative genomic hybridisation array. Six patients were familial cases belonging to three unrelated pedigrees and three were sporadic cases. The patients had the following characteristics: mild dysmorphic facial features (except for two patients), mental retardation with moderate to severe global language deterioration, electroencephalographic epileptiform discharges during wakefulness and especially during sleep or electrical status epilepticus during slow sleep in younger cases, and negative brain magnetic resonance imaging. The main clinical features of this new microduplication syndrome were mild facial dysmorphisms, from increased electroencephalogram abnormalities during sleep to electrical status epilepticus during slow sleep, and mental retardation mainly involving language function in the absence of detectable brain lesions. In the absence of detectable brain lesions, speech delay may be associated with electrical status epilepticus during slow sleep or, alternatively, related to abnormal brain expression of a dosage-sensitive gene contained within the duplication region.
Assuntos
Cromossomos Humanos X/genética , Duplicação Gênica , Doenças do Sistema Nervoso/genética , Adolescente , Adulto , Encéfalo/patologia , Criança , Eletrodiagnóstico , Eletroencefalografia , Feminino , Dosagem de Genes , Humanos , Hibridização in Situ Fluorescente , Deficiência Intelectual/genética , Imageamento por Ressonância Magnética , Masculino , Doenças do Sistema Nervoso/patologia , Doenças do Sistema Nervoso/psicologia , Condução Nervosa/fisiologia , Testes Neuropsicológicos , FenótipoRESUMO
Levetiracetam is an antiepileptic drug (AED) with a favourable tolerability profile with little or no effect on liver function. We describe an epileptic patient who developed a significant increase in gamma glutamyltransferase (gammaGT) while on levetiracetam monotherapy.
Assuntos
Epilepsias Parciais/tratamento farmacológico , Fígado/efeitos dos fármacos , Piracetam/análogos & derivados , gama-Glutamiltransferase/sangue , Anticonvulsivantes/efeitos adversos , Monitoramento de Medicamentos , Epilepsias Parciais/sangue , Feminino , Humanos , Levetiracetam , Pessoa de Meia-Idade , Piracetam/efeitos adversos , Resultado do TratamentoRESUMO
Platelet Amyloid Precursor Protein ratio of different abnormal forms and 99mTc-ECD SPECT perfusion analysis were evaluated in Mild Cognitive Impairment (MCI) subjects who progressed to Alzheimer Disease (AD) and in stable MCI. We report that their combined evaluation increases the discriminative power of the analysis in identifying presymptomatic AD. The positive predictive value of these combined markers in identifying progressive MCI was 0.87, and the negative predictive value was 0.90. This observation suggests that the interplay of different markers should be considered for enhancing diagnostic accuracy of pre-clinical AD.