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 report an unusual case of encephalotrigeminal angiomatosis in which the facial and oral angioma was bilateral, and several teeth were congenitally absent. The developmental nature of the anomaly is reviewed. Encephalotrigeminal angiomatosis is commonly referred to as the Sturge-Weber syndrome, after Sturge and Weber who first described this affliction in 1879. The main clinical features of this syndrome are 1. venous angiomatosis of the leptomeninges of the cerebral-cortex, usually unilaterally 2. ipsilateral facial angiomatosis that often follows in outline the distribution of the trigeminal nerve (Fig 1) 3. ipsilateral gyriform calcification of the cerebral cortex 4. epileptic convulsions (contralateral focus) or other seizures 5. ocular defects (choroidal angioma, glaucoma hemianopia) 6. mental retardation 7. contralateral hemiplegia 8. obesity 9. oral mucosal and gingival involvement. Other less typical features are 1. association with hypomelanosis of 1 to 10 2. leptomeningeal angioma contralateral to the facial nevus 3. leptomeningeal angioma without facial vascular naevus 4. association with gastro intestinal hemorrhage 5. paranasal sinus enlargement. This syndrome that affects males and females equally, is a rare congenital disorder, apparently hamartomatous in nature, from persistence of a primitive embryonal vascular plexus. During the sixth week of intra-uterine life this plexus develops around the cephalic portion of the neural tube and under the ectoderm in the region destined to become facial skin. In the Sturge-Weber syndrome, the vascular plexus fails to regress, as is normal during the ninth week, resulting in angiomatosis of the related tissues. Variation in the degree of persistence or regression of the vascular plexus accounts for unilaterality or bilaterality of involvement, and also for an incomplete syndrome in which the leptomeninges, but not the facial tissues are affected. Leptomeningeal angiomatosis is the primary abnormality of encephalotrigeminal angiomatosis, all other features of the syndrome probably being secondary to this. Calcification of the cortex is a poorly understood phenomenon which may result from stasis of blood in the angioma, associated with altered local metabolism. Epilepsy and other neurological seizures, and mental retardation are probably, in their turn, secondary to the cortical calcification. The most striking clinical feature of the Sturge-Weber syndrome is the facial vascular naevus which generally follows the distribution of innervation of one or more divisions of the trigeminal nerve, whence the term encephalotrigeminal angiomatosis. However, the naevus may be more extensive, down the neck and even onto the chest. The oral tissues underlying the affected facial tissues are invariably also angiomatous and may be considerably enlarged as a result. Alterations in eruption of teeth have also been noted. Histologically, affected soft tissues are very vascular, resembling a pyogenic granuloma or a capillary, or cavernous hemangioma. Yukna, Cassingham and Carr noted that affected bone was partially replaced by a delicate fibrous tissue containing thin-walled vascular spaces. Neither inflammatory cells, nor fatty or haemopoietic marrow was noted.
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PMID:Encephalotrigeminal angiomatosis. 1496 51

Sturge-Weber syndrome (SWS) is a phakomatosis characterized by vascular nevus flammeus, leptomeningeal venous angiomatosis, seizures, dementia, hemiplegia, hemianopsia, and glaucoma. Various imaging findings (gyriform calcification, atrophy of the ipsilateral hemisphere, leptomeningeal enhancement, ipsilateral choroid plexus enlargement, thickened calvarium, enlargement of paranasal sinuses and mastoid air cells, enlargement of deep veins, and white matter change adjacent to leptomeningeal enhancement) are seen in SWS. We examined the efficacy of CT and MR imaging in making the diagnosis in 14 patients. All patients underwent CT and MRI, and 11 of 14 patients underwent contrast-enhanced MRI. The most specific finding was leptomeningeal enhancement. Gyriform calcification, atrophy of the ipsilateral hemisphere, and ipsilateral chroid plexus enlargement were seen at high frequencies. Thickened calvarium was more frequent in adult patients. Enlargement of paranasal sinuses and mastoid air cells, enlargement of deep veins, and white matter change adjacent to leptomeningeal enhancement were seen in some (3-5) patients. A combination of findings of plain CT and MRI (including postcontrast MRI and MR venography) are useful for diagnosing SWS.
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PMID:[Imaging of Sturge-Weber syndrome: cranial CT and MR findings]. 1521 82

Sturge-Weber syndrome (SWS) is a sporadic disorder characterized by naevus (port wine stain), a pial angioma, and glaucoma. The angioma comprises abnormal tortuous vessels on the leptomeninges with underlying brain gliosis, calcification, and atrophy. The cerebral angioma is commonly unilateral but may be bilateral. Hemiplegia usually follows recurrent hemiconvulsions and may be related to venous stasis. The hemiplegia can be static, progressive, or fluctuating. Transient worsening of the hemiplegia can be seen with seizures and episodes resembling hemiplegic migraine. We report five patients (four females, one male) with SWS who have had transient worsening of hemiplegia following minor head injuries, occurring between the ages of 10 months and 12 years (median age 4y 6mo). An additional pilot survey suggests that this may affect up to 20% of patients.
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PMID:Transient exacerbation of hemiplegia following minor head trauma in Sturge-Weber syndrome. 1771 27

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

Sturge Weber Syndrome is a rare neurocutaneous syndrome in which the severity is determined by degree of brain involvement and control of epilepsy. The authors describe and analyse clinical and imaging features of this syndrome, through a retrospective study of 13 patients (8 girls; aged between 15 days and 9 years at first visit). Twelve had facial angioma and one had atrichia corresponding to the area of brain involvement. Epilepsy was diagnosed in 6 cases, hemiplegia in 4, psychomotor delay in 7, and glaucoma in 4. Cerebral abnormalities were found in 10 children, 3 without neurological symptoms. The clinical signs and symptoms vary and there is not always a relationship between the severity of the clinical and neuroimaging abnormalities, which may occur even in the absence of neurological symptoms.
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PMID:[Sturge-Weber syndrome -clinical and neuroimaging variability]. 2274 19

Sturge-Weber syndrome (SWS) is characterized by angiomas affecting the ophthalmic division of the trigeminal nerve, epilepsy, intellectual impairment, hemiplegia and glaucoma. We report a patient who developed SWS without facial hemangioma (SWS type III) in his adulthood. The patient presented with repeated episodes of headache since age 37 year. He manifested first attack of seizure at the age 47 year followed by aphasia and right upper limb palsy. Brain CT scan revealed right parietal-occipital calcification, brain CT angiography showed right temporal lobe and occipital lobe vascular malformation, and MRI showed leptomeningeal enhancement in the riht cerebral piamater. The seizure was controlled with antiepileptic drugs and reviewed in routine follow up.
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PMID:[Adult Sturge-Weber syndrome without facial hemangioma: report of one case]. 2537 46