Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0018991 (hemiplegia)
 3,997 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

In congenital porencephalies, diverticulation of the lateral ventricle is a dynamic process producing compression and stretching of the brain tissue bordering the diverticulum, bulging of the overlying skull, macrocephaly, and occasionally progessive neurologic signs (hemiplegia, raised intracranial pressure), even when the rest of the ventricular system is not dilated and the CSF pressure is normal. Ventriculoperitoneal shunting can result in remarkable improvement of focal motor deficits and may apparently also play a beneficial role on further mental development. Successive computed tomography scans demonstrate that the brain parenchyma, which had been stretched by the porencephalic pouch, is capable of regaining near normal thickness. Congenital porencephalies are initiated by a limited destructive brain lesion, but the gradual expansion of the ventricular herniation may imply a mechanism identical to that which has been postulated in normal pressure hydrocephalus. Nine cases of unilateral "expanding" congenital porencephalies are presented and the treatment of this condition is discussed.
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PMID:Progressive expanding congenital porencephalies: a treatable cause of progressive encephalopathy. 726 26

We reported a patient with cardio-facio-cutaneous (CFC) syndrome associated with moyamoya syndrome. The patient was referred at 6 years 5 months with left hemiplegia and right-sided eye deviation. He had an apparently short stature, macrocephaly, left ptosis and atopic skin, and was odd looking. He exhibited an incomplete right bundle branch block on electrocardiogram and an atrial septal defect on ultrasound cardiography. He was diagnosed as having CFC syndrome. Head magnetic resonance imaging showed a flow void in the bilateral basal ganglia, but did not show any ischemic changes. Magnetic resonance angiography showed bilateral stenosis with an internal carotid artery at the Willis artery ring level and bilateral moyamoya. Contrast angiography demonstrated occlusion of both middle cerebral arteries. Cerebrovascular anomalies have not previously been reported in CFC syndrome. This is the first case of CFC syndrome associated with moyamoya syndrome.
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PMID:Cardio-facio-cutaneous syndrome and moyamoya syndrome. 1201 68

L-2-hydroxyglutaric aciduria was diagnosed in a 9-month-old female infant after a complex febrile convulsion with subsequent transient left-sided hemiplegia. The symptoms were consistent with acute hemiconvulsion-hemiplegia-epilepsy syndrome. Magnetic resonance imaging (MRI) of the brain revealed distinct white-matter abnormalities in the bifrontal and bioccipital periventricular area and increased signal intensity in the lenticular, caudate, and dentate nuclei, consistent with L-2-hydroxyglutaric aciduria. Increased concentrations of L-2-hydroxyglutaric acid were detected in the urine, plasma, and cerebrospinal fluid. The patient was homozyous for the p.Lys81Glu (c.241A>G) missense mutation in the L-2-HGA gene, confirming the diagnosis of L-2-hydroxyglutaric aciduria. Acute hemiconvulsion-hemiplegia-epilepsy syndrome has not been reported as a presenting feature in L-2-hydroxyglutaric aciduria. In patients with prolonged or complicated febrile seizures such as hemiconvulsion-hemiplegia-epilepsy syndrome, L-2-hydroxyglutaric aciduria should be included in the differential diagnosis, especially in children with concomitant macrocephaly.
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PMID:Hemiconvulsion-hemiplegia-epilepsy syndrome as a presenting feature of L-2-hydroxyglutaric aciduria. 1694 46