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

Four children with a cerebrovascular occlusive accident and protein C deficiency are described. Two patients presented with an acute hemiplegia, the others suffered from a transient ischemic attack and a progressive hydrocephalus as the result of sinus thrombosis. In all cases protein C deficiency, Type 1, was diagnosed. Other causes of cerebrovascular disease were excluded. Although venous thrombosis has been extensively reported in protein C deficiency, these cases indicate that protein C deficiency is also related to arterial thrombosis. In evaluating children with cerebrovascular accidents, protein C deficiency should also be considered.
 ...
PMID:Neurological complications in children with protein C deficiency. 820 45

Hereditary protein S deficiency (HSPD) is a predisposing factor to recurrent venous thrombosis but is not currently associated with stroke. We report two cases of HSPD revealed by stroke in young adults. The first one was a 36-year-old patient whith a pure motor hemiplegia, who gradually recovered without sequelae. Total and free protein S was decreased (55 and 10%). One of his brothers died from pulmonary embolism at 20 years and a sister had low protein S level without clinical signs. The second case was a 26-year-old patient who had a right hemiplegia with aphasia due to an infarction in middle cerebral artery area. He partially recovered, but the course of the illness was complicated by deep venous thrombosis of the lower limbs and pulmonary embolism. Total and free serum protein S level was severely decreased (25 and 0%). The patient's mother and one of his sisters also had low protein S but never had clinical complications. In both case, dupplex scanning, transcranial doppler, echocardiography, serum antithrombin III and protein C were normal. Cigarette smoking was the only risk factor for arterial disease. These two cases suggest that HSPD must be investigated in young patients with stroke, even in cases of lacunar stroke.
 ...
PMID:[Cerebrovascular complications and hereditary protein S deficiency: 2 cases]. 876 59

A 72-year-old man developed a sudden weakness in his left hand on October 5, 1991. He was admitted two weeks thereafter. Physical examination revealed minimal weakness, and clumsiness of the fingers on his left hand. Exaggerated tendon reflexes and spasticity were also noted only on his left upper limb. He had neither dementia nor psychiatric symptoms. Subsequently he developed weakness in his left leg on November 17. Within 12 days he developed left facial weakness, and myoclonic movements on the left side. By December 2, he developed spastic tetraparesis with bilateral facial palsy, and generalized myoclonic jerks. A few days after that he started to show decorticate posture. From December 16, his mental status deteriorated rapidly, and he became mute, and uncooperative within a week. His clinical course can be summarized as stepwise progression similar to a cerebrovascular accident. Electroencephalography was normal on admission, but periodic synchronous discharge developed in January 1992. Brain CT that showed only mild brain atrophy at first was considered to be compatible with his age, changed to have severe brain atrophy in March 1992. He died of pneumonia on May 24, 1992 after eight months of progressive clinical course. Autopsy was done. The brain weighed 930 grams. Macroscopically there was prominent cortical atrophy. Microscopic examination revealed severe spongy state throughout the cerebral cortex. Typical spongiform changes were confined to the hippocampus. The cerebral white matter appeared to be normal. In the cerebellar cortex, the granular cell layer disappeared and Purkinje's cells were reduced in number. Kuru plaques were not seen. The cerebellar white matter, dentate nucleus, and brainstem seemed to be normal. The spinal cord was not examined. There were no pathological changes to indicate cerebrovascular accident, except for a lacuna in the right basal ganglion and a small angionecrosis in the pons. Western blotting test using Anti-APC (amyloid plaque core) antibody was positive. Neuropathological changes of the present case were consistent with those of CJD. However, the sudden onset of monoparesis without dementia or ataxia is rare as the initial symptom of this disease. The subsequent clinical course with stepwise progression of hemiplegia, which was mimicking a progressive stroke, was also rare for CJD. In comparison to typical case of CJD, this case had a different clinical onset as acute monoparesis. We can find such cases of CJD presenting as stroke in 5.6% in the previous English literatures.
 ...
PMID:[A case of Creutzfeldt-Jakob disease (CJD) started with monoparesis of the left arm]. 904 57

Carbohydrate-deficient glycoprotein syndrome type 1 (CDGS-1) is an autosomal recessive hereditary metabolic disorder, the gene locus of which is chromosome 16p13. The disorder is characterised by genetic heterogeneity, and by decrease in the gene product, phosphomannomutase 2, though the heterogeneity is far less manifest in affected Swedish families. Its incidence is 1/80,000 live births, and the under-5 mortality rate over 30 per cent. The causes of death are liver failure, cardiac tamponade, haemorrhaging, and severe infection. The characteristic biochemical aberration is the occurrence of deficient carbohydrate chains in many but not all circulating glycoproteins, and the serum and blood concentrations of some glycoproteins may be above or below normal. These changes may improve over time, but never normalise. The clinical picture is generally more problematic during the first years of life when psychomotor retardation is complicated by failure to thrive, liver dysfunction, pericardial effusions, and stroke-like episodes. In addition, strabismus, lipocutaneous anomalies, and gluteal fat pads are always present, and muscular hypotonia and restricted joint mobility are common. Failure to thrive is common, with vomiting and diarrhoea and subsequent slow growth. Inflammation is a constant finding in the liver, and very common in the small bowel. Pancreatic function is also affected. Pericardial effusion has been reported in 50 per cent of the youngest children, requiring pericardectomy in 30 per cent of cases. Haemorrhaging and thromboembolic complications may occur, and the serum concentrations of several factors and inhibitors are low, particularly those of factors V and XI, protein C and antithrombin. Stroke-like episodes occur in about 30 per cent of cases, often following an infection, with coma lasting for hours to several days. Such sequelae as hemiplegia, blindness, and other focal neurological pathology have been observed transiently. Diagnosis is based on the serum carbohydrate-deficient transferrin level, verified by isoelectric focusing. Molecular genetic procedures enable point mutations to be identified and prenatal diagnosis to be performed in many families.
 ...
PMID:[CDGS-1--a recently discovered hereditary metabolic disease. Multiple organ manifestations, incidence 1/80,000, difficult to treat]. 988 93

Hereditary hypercoagulability has been identified as risk factor in approximately 30% of cerebral venous thrombosis cases. We report three females with this association. A 38 years old female with a history of deep venous thrombosis of the lower limb, presented with headache, vomiting and a generalized seizure. Magnetic resonance angiography showed a partial thrombosis of the left lateral and superior longitudinal venous sinuses. Coagulation study showed a resistance to activated C protein and factor V Leyden. A 42 years old woman with a history of deep venous thrombosis, presented a right hemiplegia during a hospitalization. Magnetic resonance showed a left lateral hemorrhagic infarction. Magnetic resonance angiography showed an absence of signal in three venous sinuses. Coagulation study showed a protein C deficiency. A 17 years old woman presented a right hemiparesis in the sixth day of puerperium. CAT scan showed a left frontoparietal subcortical venous infarction. Coagulation study showed an antithrombin III deficiency.
 ...
PMID:[Status of hereditary hypercoagulability and cerebral venous thrombosis. Report of 3 cases]. 1196 66

A-38-year-old man suddenly developed nausea, vomiting and vertigo during chiropractic neck manipulation. This was followed by right hemiplegia, right deep sensory disturbance and left hypoglossal nerve palsy, consistent with the medial medullary infarction (Dejerine syndrome). The MRI revealed infarction at left medial part of the medulla. The vertebral angiogram and MRA showed marked narrowing of the left vertebral artery. X-rays of the cervical spine showed no spondylosis, dislocation nor osteolysis of the odontoid process. The serological studies, including lupus anticoagulant, protein C, and protein S gave normal results. Although vascular accidents involving the brain stem after chiropractic neck manipulation have been reported since Pratt-Thomas and Berger, previous reports are still rare. In them lateral medullary infarction (Wallenberg syndrome) is probably the most common case. On the other hand, medial medullary syndrome (Dejerine syndrome) is absolutely rare. To our knowledge, the only one report has been made by Watanabe and his colleagues before our present case. The mechanism was suggested that rotation and tilting of the neck stretches and compresses the vertebral artery at the cervical joint causing injury to the vessel, with an intimal tearing, dissection, and pseudoaneurysm formation. Consequently, the present case may be caused by injury to the left vertebral artery with an intimal tearing during neck manipulation sufficient to cause disection and subsequent infarction of the brain stem.
 ...
PMID:[The medial medullary infarction (Dejerine syndrome) following chiropractic neck manipulation]. 1268 91

The authors report an infant with congenital hemiplegia associated to heterozygosity for factor V Leiden. Prenatal stroke in the left cerebral hemisphere was diagnosed by ultrasonography at the 28th week of pregnancy, and followed up until birth. Although neonatal neurologic examination was normal, a moderate right hemiparesis developed along the 1st months of life. Coagulation studies performed in the neonatal period and at the age of 18 months revealed activated protein C resistance due to factor V Leiden mutation (R506Q). There are some previous reports of stroke associated to this mutation in near or at term neonates, but to our knowledge this is the stroke detected at the most early stage of fetal development.
 ...
PMID:Prenatal stroke in a neonate heterozygous for factor V Leiden mutation. 1612 36

The factor V Leiden mutation is a specific point mutation in the gene coding for factor V. It renders activated factor V resistant to degradation by activated protein C (APC). This hereditary resistance to APC (HRAPC) is a known risk factor for systemic venous thrombosis. We present a case of homozygous HRAPC presenting as cerebral venous thrombosis (CVT). A 24-year-old woman presented with a dense left hemiplegia and papiledema. A computed tomography scan showed a high ritht parieto-occipital infarct with hemorrhagic conversion. Angiography confirmed the diagnosis of extensive CVT. Treatment included heparin and direct intrathrombus thrombolysis initially as a bolus and then as an infusion for 21 hours. Repeat angiography showed partial recanalization. After 9 days, the patient was discharged on warfarin with minimal residual left weakness but persistent papilledema. Homozygous HRAPC appears to be a risk factor for CVT and should be considered in the evaluation of CVT.
 ...
PMID:Homozygous hereditary resistance to activated protein C presenting as cerebral venous thrombosis. 1789 36