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)

We describe a patient with traumatic carotid-cavernous fistula (CCF), subsequently developing contralateral extensive hemorrhagic venous infarction from retrograde venous reflux into the opposite basal vein of Rosenthal. A 54-year-old woman was involved in a motor vehicle accident and sustained severe traumatic brain injury. Two months later, she developed bilateral proptosis and audible bruit. Magnetic resonance imaging (MRI) and magnetic resonance angiography (MRA) of the brain demonstrated the right direct CCF. Fluid-attenuated inversion recovery (FLAIR) images showed a small hyperintense area at the left basal ganglia. Ten days later, she developed right-sided grade 2/5 hemiparesis, facial upper motor neuron weakness, and cognitive impairment. Follow-up MRI showed significant progression of hyperintensities involving the left-sided centrum semiovale, basal ganglia, thalamus, midbrain, pons, cerebellum, basal frontal, temporal lobes, especially subcortical white matter on FLAIR images, and multiple hypointense foci of hemorrhagic component on T2*-weighted gradient-echo images, representing hemorrhagic venous infarction. While waiting for embolization, she rapidly developed right hemiplegia and aphasia, and became somnolent. Under general anesthesia, emergency endovascular treatment was performed successfully to obliterate the fistula without surgical intervention. Five months after endovascular treatment, MRI and MRA confirmed no residual fistula and revealed nearly complete resolution of abnormal increased signal intensity. In the present case, the factors related to the presence of this rare condition were absence of the ipsilateral basal vein of Rosenthal (BVR), occlusion of posterior segment of the contralateral superior petrosal sinus, and a developed uncal vein with hypoplastic second and third segments of the contralateral BVR.
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PMID:Contralateral extensive cerebral hemorrhagic venous infarction caused by retrograde venous reflux into the opposite basal vein of Rosenthal in posttraumatic carotid-cavernous fistula: A case report and literature review. 2978 69

Alternating Hemiplegia of Childhood (AHC) is a rare disorder characterized by frequent, transient attacks of hemiplegia involving either side of the body or both in association to several other disturbances including dystonic spells, abnormal ocular movements, autonomic manifestations, epileptic seizures and cognitive impairment. The clinical manifestations usually start before the age of 18 months. Two forms of the disorder known as AHC-1 (MIM#104290) and AHC-2 (MIM#614820) depends on mutations in ATP1A2 and ATP1A3 genes respectively, with over 75% of AHC caused by a mutation in the ATP1A3 gene. Herewith, we report serial clinical follow-up data of monozygotic (MZ) twin sisters, who presented in early life bath-induced dystonia, signs of acute encephalopathy at the age of 2 years, hemiplegic spells, and motor dysfunction after the age of 3 years, and in young/adult frequent episodes of headache with drastic reduction of paroxysmal motor attacks. The molecular analysis revealed a known pathogenic variant p.Asn773Ser (rs606231437) in ATP1A3 gene associated with an unusual and moderate AHC-2 phenotype, with mild cognitive impairment and lack of epilepsy. The aim of this study is to analyze the clinical phases of the MZ twins, and to investigate the novel genotype-phenotype correlation.
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PMID:Long-term follow-up and novel genotype-phenotype analysis of monozygotic twins with ATP1A3 mutation in Alternating Hemiplegia of Childhood-2. 3245 13


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