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 are reporting what we believe to be the first case of moya moya disease (hemiplegia associated with supraclinoid carotid stenosis and multiple cerebral telangiectasia) in a child with Down's syndrome. On cerebral angiography, multiple collateral vessels and rete mirabile (anastomosis of meningeal vessels with internal cerebral vessels) were noted, in addition to the supraclinoid carotid stenosis. Computerized tomography revealed nonobstructive hydrocephalus and findings consistent with multiple vascular insults or infarcts. It is not clear whether moya moya disease represents a true disease entity (congenital arterial dysplasia) or is a syndrome caused by nonspecific vascular reaction. Since abnormal vascular morphology has previously been described in children with trisomy 21, we suggest that the presence of these two disease entities may not be coincidental. It may represent a genetic predisposition in Down's syndrome toward vascular abnormalities, with variable expressivity which manifested itself in this case by abnormalities in the cerebral circulation.
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PMID:Acute hemiplegia and cortical blindness due to moya moya disease: report of a case in a child with Down's syndrome. 14 47

Raynaud's phenomenon, uncommon in childhood, often heralds connective tissue disorder. Since microvascular abnormalities can be detected at an early stage of the connective tissue disease, especially in scleroderma, a specific diagnosis can be made in patients presenting with Raynaud's phenomenon alone or Raynaud's phenomenon associated with symptoms suggestive of connective tissue disease. Raynaud's phenomenon was studied in 11 consecutive children, 10 girls and 1 boy, ages 6 to 15. One child had a definite diagnosis of cutaneous polyarteritis nodosa. In 6 others connective tissue disease was suspected: 4 had arthritis, 2 has telangiectasia, leg ulcers and antinuclear antibodies. Of the remaining 4, one had hemiplegia and 3 Raynaud's phenomenon only. Oscillometry of the radial artery was reduced in 7 of 9. Decreased capillary resistance was found in 2 of 6, while abrupt thinning in conjunctival vessels was seen in 3 of 7. On nailfold capillaroscopy, reduced vascularity was noted in 5 of 11, dilated capillaries in 4 of 11, tortuousity in 2 of 11, capillary thinning in 1 of 11, capillary spasm in 1 of 11 and normal pattern in 3 of 11. Two patients presenting with Raynaud's phenomenon were found to have "scleroderma-like pattern" on nailfold capillaroscopy. One of them died 2 years later of cardiopulmonary sclerosis, and another developed esophageal stricture and Barrett's esophagus. Neither has sclerodermatous skin. In childhood Raynaud's phenomenon, nailfold capillaroscopy is a non-invasive examination enabling early diagnosis of "systemic scleroderma sine scleroderma".
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PMID:Raynaud's features in childhood. Clinical, immunological and capillaroscopic study. 149 54

We reported a 41-year-old male with paramedian thalamic and midbrain infarcts due to cerebral embolism from bilateral pulmonary arterio-venous fistula and primary medullary hemorrhage. The patient had an episode of sudden onset consciousness disturbance with left Weber's syndrome (right hemiplegia and left oculomotor palsy) and vertical gaze palsy at age of 23. He noticed numbness in the left hand and the left half body under clavicular when he had got up in a morning at age 41. He had headache and left tinnitus on second and third days, and on the 3rd and 4th days, he experienced nausea. He had severe hiccup persisting from the 6th to the 13th days. The 23rd days he was admitted to our hospital. He showed dysesthesia and paresthesia in left half body under clavicular, dysesthesia in left hand and vertical gaze palsy and convergence disturbance. MRI performed on the 18th and 24th days, disclosed hyperdense mass in T1 and T2-weighted images in dorsal site of medulla, but the 70th days MRI showed no abnormal lesions. Therefore we diagnosed the high intensity mass as primary medullary hemorrhage. Cerebral angiography showed no abnormal vasculature. Many members of his family had history of sever nasal bleeding. He had skin hemangioma and mucosal hemangioma in esophagus, stomach, colon and rectum, and bilateral pulmonary arterio-venous fistula which had been operated at age 39. His mother also had skin hemangioma and pulmonary arterio-venous fistula. Therefore this family was diagnosed Rendu-Osler-Weber syndrome (hereditary hemorrhagic telangiectasia). MRI also disclosed multiple cerebral infarctions in bilateral thalamus, left cerebral peduncle and left cerebellar hemisphere.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:[Rendu-Osler-Weber syndrome presented paramedian thalamic and midbrain infarcts and primary medullary hemorrhage: a case report]. 269 33

The clinical courses of 31 episodes of brain abscess and one episode of meningitis occurring in patients with hereditary hemorrhagic telangiectasia are reviewed. Pulmonary arteriovenous malformations were demonstrable in all but two patients and presumably permitted septic microemboli to evade the normal pulmonary capillary filter and lodge in the brain. Obtundation, headache, visual disturbances, hemiplegia, and seizures were the most common presenting features. Cyanosis, clubbing, polycythemia, and hypoxemia were routinely encountered, but leukocytosis and fever were present in a minority of cases, and all blood cultures were sterile. Anaerobic and microaerophilic streptococci were the commonest pathogens found in the brain abscesses. Thirteen patients died, and patients without abscess drainage or with delayed diagnosis had a higher mortality rate. A brain abscess may develop in approximately 1 percent of patients with hereditary hemorrhagic telangiectasia, and awareness of this risk should lead to early investigation of any patient with hereditary hemorrhagic telangiectasia who has neurologic symptoms.
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PMID:Central nervous system infections associated with hereditary hemorrhagic telangiectasia. 637 93

A 5-year-old girl with cutis marmorata telangiectasia congenita (CMTC) and congenital glaucoma, who had previously presented with seizures, transient hemiplegia, upper gastrointestinal bleeding and hemihypertrophy, developed a large pleural effusion. Subsequent imaging revealed renal lymphangiomatosis, multiple anomalous intra-abdominal venous channels, an interrupted inferior vena cava with a persistent primitive hepatic venous plexus (PPHVP) and meningeal angiomas. To the best of our knowledge, the CT findings of PPHVP and the combination of the demonstrated abnormalities have not been previously reported. They may represent an overlap syndrome of CMTC, Sturge-Weber syndrome and Klippel-Trenaunay syndrome. The complexity and degree of overlap highlights the importance of an accurate clinical and anatomical description and good communication among clinicians.
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PMID:Renal lymphangiomatosis, interrupted IVC with persistent primitive hepatic venous plexus and multiple anomalous venous channels: parts of an overlap syndrome? 2177 96

We report a case of spectacular shrinking deficit caused by paradoxical cerebral embolism through pulmonary arteriovenous fistula (AVF). A 79-year-old female suddenly developed right hemiplegia, paresthesia, and speech disturbance symptoms that were improved within 20 min, indicating a diagnosis of spectacular shrinking deficit. Brain magnetic resonance imaging revealed acute cerebral infarcts in the left parietal cortex of the left middle cerebral arterial territory. A contrast-enhanced chest computed tomography scan revealed a pulmonary AVF in the middle lobe of the right lung. The patient had deep venous thrombosis in her left lower leg. She had no clinical signs of telangiectasia, did not exhibit recurrent epistaxis, and had no family history of hereditary hemorrhagic telangiectasia (HHT). Therefore, she was diagnosed with paradoxical cerebral embolism secondary to the pulmonary AVF without HHT. Pulmonary AVF should be considered in patients with cerebral embolism, even when presenting with spectacular shrinking deficit.
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PMID:[A case of spectacular shrinking deficit caused by paradoxical cerebral embolism secondary to pulmonary arteriovenous fistula]. 2432 35