نتایج جستجو برای: brain malformation
تعداد نتایج: 486518 فیلتر نتایج به سال:
OBJECTIVE To delineate a new syndrome of brain dysgenesis and cutis laxa based on the description of 11 patients belonging to nine unrelated families recruited through an international collaboration effort. METHODS Careful clinical assessment of patients from birth to the age of 23 years with follow-up studies ranging from 3 to 20 years. Biochemical studies of serum proteins glycosylation by ...
Patients: 601 patients (mean age 64 y, 57% men) who were conscious, had a computed tomography–confirmed spontaneous lobar ICH (volume 10 to 100 mL) ≤ 1 cm from the cortical surface of the brain, and presented ≤ 48 hours after ictus. Exclusion criteria included hemorrhage that was intraventricular, due to arteriovenous malformation confirmed by angiography or an aneurysm, secondary to tumor or t...
Lissencephaly is a rare brain malformation characterized histologically by arrested neuronal migration such that the brain resembles that of a fetus before 23-24 weeks gestation. We studied a neonate with lissencephaly by using diffusion tensor imaging and suggest the dysplastic densely cellular layer IV is visible as a band of anisotropic diffusion. Fiber tracking showed lack of connectivity b...
An unbalanced translocation of chromosome 1 and 7 (t[1;7]) associated with neurological phenotype and brain malformation has rarely been reported. This clinical report describes 3 siblings with brain malformations and a 13.5 Mb duplication of 1q42.3q44, and a 7.6 Mb duplication of 7q36.1q36.3 detected by array comparative genomic hybridization. This unbalanced t(1;7) was found to be inherited f...
Joubert syndrome (JS) is a rare autosomal recessive disorder with cerebellar vermis hypoplasia and complex brainstem malformation. The diagnosis of cases can be difficult as the presentation can be similar to cases of cerebral palsy. We present a case of JS in an 18-month-old girl who presented to pediatric rehabilitation with a diagnosis of hypotonic cerebral palsy and abnormal eye movements. ...
BackgroundRecent advances in respiratory management have improved survival for patients with Fukuyama congenital muscular dystrophy (FCMD), characterized by and brain malformation. Previous studies reported that more than half of exhibit seizures childhood. However, little is known about epilepsy after childhood.MethodsTo elucidate the long-term clinical course epilepsy, we retrospectively revi...
We describe a case of brain cortical reorganization after embolization of a large right temporal arteriovenous malformation. A comprehensive imaging protocol, including functional magnetic resonance imaging (fMRI), cortical thickness analysis and 320-row computed tomography (CT) perfusion was used to provide information on brain plasticity and potential steal phenomenon. A 25-year-old man known...
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