RESUMO
22q11.2 deletion syndrome is the most common microdeletion syndrome. This article reviews the different neurological manifestations of 22q11.2 deletion syndrome. The syndrome is associated with neurological disorders such as epilepsy and movement disorders. Patients with 22q11.2 DS have an increased incidence of provoked and unprovoked seizures. Provoked seizures include, amongst others, seizures due to hypocalcemia, surgery, perioperative hypoxia, antipsychotic medication, and fever. Both focal seizures, myoclonus and generalized tonic-clonic seizures occur in 22q11.2 DS. Generalized epilepsy occurs more often than in the background population. Furthermore, 22q11.2 DS is associated with a significantly increased risk of developing Parkinson's disease, and an increased incidence of dystonia has also been suggested. Abnormal neuroradiological findings - amongst them polymicrogyria - are common in 22q11.2.2 DS and reviewed in the article. The risk of psychiatric disorders, in particular schizophrenia, is increased in 22q11.2 DS.
Assuntos
Antipsicóticos , Síndrome de DiGeorge , Epilepsia , Esquizofrenia , Deleção Cromossômica , Síndrome de DiGeorge/complicações , Síndrome de DiGeorge/diagnóstico por imagem , Síndrome de DiGeorge/genética , Epilepsia/genética , Humanos , Convulsões/epidemiologiaRESUMO
Neurofibromatosis type 1(NF1) is a dominantly inherited genetic disorder caused by a mutation in the NF1 tumor-suppressor gene. Patients are prone to develop benign and malignant tumors not only in the central and peripheral nervous system but also in other parts of the body. Apart from tumors, neurofibromatosis may also be associated with neurological symptoms and disorders such as cerebrovascular disease, epilepsy, neuropathy, and headache. This article seeks to review the different neurological manifestations of neurofibromatosis.
Assuntos
Epilepsia , Neurofibromatose 1 , Doenças do Sistema Nervoso Periférico , Genes da Neurofibromatose 1 , Cefaleia , Humanos , Mutação , Neurofibromatose 1/complicações , Neurofibromatose 1/diagnósticoRESUMO
Tuberous sclerosis complex (TSC) is an autosomal dominant genetic disorder with highly varying disease manifestations, many of which cause extensive morbidity. There are international consensus criteria for the diagnosis, monitoring and treatment of TSC, and approved medical treatment for some of the most serious disease manifestations. However, organisation of a rational and coordinated care of TSC patients involves many different medical specialities and is only sparsely described. This review describes the interdisciplinary care of TSC patients at Aarhus University Hospital, Denmark.
Assuntos
Esclerose Tuberosa , Consenso , Dinamarca , Humanos , Esclerose Tuberosa/diagnóstico , Esclerose Tuberosa/terapiaAssuntos
Doenças Desmielinizantes Hereditárias do Sistema Nervoso Central/diagnóstico , Vasculite do Sistema Nervoso Central/diagnóstico , Axônios/patologia , Progressão da Doença , Humanos , Imageamento por Ressonância Magnética , Receptores de Fator Estimulador das Colônias de Granulócitos e Macrófagos/genética , Vasculite do Sistema Nervoso Central/genética , Vasculite do Sistema Nervoso Central/patologia , Vasculite do Sistema Nervoso Central/fisiopatologiaAssuntos
Doenças Cerebelares/etiologia , Leucoencefalopatia Multifocal Progressiva/complicações , Adulto , Doenças Cerebelares/diagnóstico por imagem , Infecções por HIV/complicações , Humanos , Leucoencefalopatia Multifocal Progressiva/diagnóstico por imagem , Leucoencefalopatia Multifocal Progressiva/etiologia , Leucoencefalopatia Multifocal Progressiva/virologia , Imageamento por Ressonância Magnética , MasculinoRESUMO
Idiopathic herniation of uncus and parahippocampal gyrus into the ambient cistern is a very rare entity, which could be mistaken for other pathology such as tumor. To the best of our knowledge, two prior cases of this kind of herniation have been described. One of these cases was with associated symptomatology and other abnormalities, and the other was characterized as idiopathic. In this case report, we report a case of accidental finding of a herniation of uncus and parahippocampal gyrus into the ambient cistern, without any other accompanying abnormalities, well depicted by magnetic resonance imaging without further necessity for surgical brain intervention.