نتایج جستجو برای: schizencephaly

تعداد نتایج: 170  

Journal: :Neurology India 2002
P Relan S K Chaturvedi B Shetty

Schizencephaly is a rare congenital anomaly of the brain, characterized by formation of abnormal unilateral or bilateral clefts in the cerebral hemispheres. It often manifests with partial seizures, mental retardation and hemiparesis. Only two cases of schizencephaly associated with psychosis have been reported in the literature. A patient of schizencephaly, who had bipolar affective disorder i...

Journal: :The Journal of the Association of Physicians of India 2008
T M Anoop T Paul Manjula Ramachandran P K Jabbar P Sujathan

A 23 year old man presented with generalized tonic – clonic seizures. The patient had history of seizures since childhood. Patient had spastic hemiparesis of left side of the body since birth. He also had mild to moderate mental retardation, speech and behavioural abnormalities. Computed Tomography of brain was taken. CT revealed, a large cystic lesion isodense to CSF continuous with right late...

Journal: :American journal of medical genetics. Part A 2007
Ian Tietjen Adria Bodell Kira Apse Ashley M Mendonza Bernard S Chang Gary M Shaw A James Barkovich Edward J Lammer Christopher A Walsh

Schizencephaly is a brain malformation disorder characterized by one or more full-thickness clefts through the cerebral cortex. While initial reports suggested that EMX2 mutations are a common cause of schizencephaly, more recent evidence suggests that EMX2 mutations are not a common cause of this malformation. To determine the frequency of EMX2 mutations in patients with schizencephaly, we seq...

2010
Cecilia Mellado Annapurna Poduri Danielle Gleason Princess C Elhosary Brenda J Barry Jennifer N Partlow Bernard S Chang Gary M Shaw A James Barkovich Christopher A Walsh

Schizencephaly is a malformation of cortical development characterized by gray matter-lined clefts in the cerebral cortex and a range of neurological presentations. In some cases, there are features of septo-optic dysplasia concurrently with schizencephaly. The etiologies of both schizencephaly and septo-optic dysplasia are thought to be heterogeneous, but there is evidence that at least some c...

Journal: :Journal of child neurology 2013
Kira A Dies Adria Bodell Fuki M Hisama Chao-Yu Guo Brenda Barry Bernard S Chang A James Barkovich Christopher A Walsh

Schizencephaly is a rare malformation of cortical development characterized by congenital clefts extending from the pial surface to the lateral ventricle that are lined by heterotopic gray matter. The clinical presentation is variable and can include motor or cognitive impairment and epilepsy. The causes of schizencephaly are heterogeneous and can include teratogens, prenatal infection, or mate...

2012
Kaveh FADAKAR Sahar DADKHAHFAR Arash ESMAEILI Zarrintaj KEYHANIDOUST

Schizencephaly is a rare central nervous system disorder with variable presentations. Here we report a patient with a huge bilateral schizencephaly and septo-optic dysplasia presenting with anterior encephalocele.

Journal: :Revista Ecuatoriana De Neurologia 2022

Schizencephaly is a rare congenital brain malformation characterized by clefts in the cerebral cortex, it classified Type I (open lip) and II (close-lip). Patients with schizencephaly present seizures, hydrocephalus, motor mental deficits. Ultrasound used for in-utero newborns patients’ diagnosis, MRI or CT already born patients. The management of conservative, rehabilitation deficits, medicati...

2016
Tanner Thorsen Michael Bohne Ross Taylor McKenna Prieto Juan Cruz Tyler Standifird

Introduction: To date, there is limited research showing how skeletal muscle in individuals with unilateral schizencephaly responds to traditional weight training programs. In all cases of schizencephaly motor impairment is by far the most frequent deficit. Examining strength increases that could be achieved in individuals with unilateral schizencephaly has clinical, as well as rehabilitative p...

Journal: :American journal of medical genetics. Part A 2005
Ian Tietjen Füsun Erdogan Sophie Currier Kira Apse Bernard S Chang R Sean Hill Christine K Lee Christopher A Walsh

Schizencephaly is a human brain malformation distinguished by full-thickness unilateral or bilateral clefts through the neocortex. Heterozygous mutations in the EMX2 locus are reported to give rise to schizencephaly. However, the comprehensive identification of causative genetic loci is precluded by a lack of large pedigrees and genome-wide linkage analyses. We present here a large Turkish pedi...

Journal: :Berkala Ilmiah Kedokteran Duta Wacana 2017

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