The syndrome of perisylvian polymicrogyria with congenital arthrogryposis
نویسندگان
چکیده
منابع مشابه
The syndrome of perisylvian polymicrogyria with congenital arthrogryposis.
BACKGROUND Bilateral perisylvian polymicrogyria (BPP) is a well-recognized malformation of cortical development commonly associated with epilepsy, cognitive impairment, and oromotor apraxia. Reports have suggested the association of BPP with arthrogryposis multiplex congenita. We sought to investigate the clinical, electrophysiological, and neuroradiological features of this combined syndrome t...
متن کاملGermline recessive mutations in PI4KA are associated with perisylvian polymicrogyria, cerebellar hypoplasia and arthrogryposis
Polymicrogyria (PMG) is a structural brain abnormality involving the cerebral cortex that results from impaired neuronal migration and although several genes have been implicated, many cases remain unsolved. In this study, exome sequencing in a family where three fetuses had all been diagnosed with PMG and cerebellar hypoplasia allowed us to identify regions of the genome for which both chromos...
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Department of Neurology, Faculty of Medical Sciences, University of Campinas (Unicamp), Campinas SP, Brazil: PhD student; PhD; Assistant Professor; Associate Professor; Full Professor. Interaction between University Service and Community Program, Botucatu Medical School, State University of São Paulo “Júlio de Mesquita Filho”: Assistant Professor. Department of Speech Therapy, University of São...
متن کاملCongenital Perisylvian Syndrome presenting as Post-partum Seizures with Preeclampsia.
Whether preceded by preeclampsia, or occuring without antecedent warning symptoms, eclamptic seizures usually occur in the antepartum period between 20 and 40 weeks of gestation or within a few hours to 2 days postpartum. We report the case of a patient with pre-eclampsia who developed seizures after more than 2 days of delivery. In view of late onset postpartum seizures and non-responsiveness ...
متن کاملCongenital Zika syndrome with arthrogryposis: retrospective case series study
OBJECTIVE To describe the clinical, radiological, and electromyographic features in a series of children with joint contractures (arthrogryposis) associated with congenital infection presumably caused by Zika virus. DESIGN Retrospective case series study. SETTING Association for Assistance of Disabled Children, Pernambuco state, Brazil. PARTICIPANTS Seven children with arthrogryposis and ...
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ژورنال
عنوان ژورنال: Brain and Development
سال: 2010
ISSN: 0387-7604
DOI: 10.1016/j.braindev.2009.08.005