Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0344232 (blurred vision)
 2,072 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Sturge-Weber syndrome consists of facial capillary malformation (port-wine stain) and abnormal blood vessels in the brain or eye. Seizures, developmental delay and intracranial and airway angiomata are principal concerns. We report a 28-year-old primiparous woman at 41 weeks of gestation with Sturge-Weber syndrome who developed unilateral weakness, aphasia, blurred vision and confusion. Preeclampsia was excluded. Neuroimaging showed left sided cerebral oedema and a right parieto-occipital lesion, most likely an angioma. Caesarean section was planned to avoid the risk of angioma rupture during labour. General anesthesia was avoided due to the haemodynamic response to laryngoscopy and reports of seizure-related mortality. Despite the possibility of raised intracranial pressure and precipitation of cerebral herniation, a lumbar epidural block was administered but failed. A subarachnoid block was successfully performed and a healthy infant delivered. The choice of anaesthesia was strongly influenced by detailed radiological investigations and multidisciplinary participation.
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PMID:Anaesthesia for caesarean section in a patient with Sturge-Weber syndrome following acute neurological deterioration. 2131 76

A 6-year-old girl presented with blurred vision and was found to have elevated intraocular pressure (IOP) and glaucomatous optic disc damage in both eyes. She also displayed capillary malformations on the face (port-wine stain), upper back and all four limbs, angiomatosis in the brain and had hypertrophy of the left upper and lower limbs typical of overlapping Sturge-Weber syndrome and Klippel-Trenaunay syndromes. She was initially managed with IOP lowering topical medications but required trabeculectomy in the right eye followed by Ahmed valve implantation in both eyes. Despite multiple measures over a 7-year period, her IOP still remained uncontrolled with gradual progression of the glaucomatous damage. This case exhibits a very rare occurrence of overlapping syndromes reported only a handful of times in literature. Most cases with Sturge-Weber syndrome have ipsilateral glaucoma affecting the eye on the same side as the port-wine stain. This case presented with bilateral refractory childhood glaucomas, which is exceedingly rare.
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PMID:A rare case of overlapping Sturge-Weber syndrome and Klippel-Trenaunay syndrome associated with bilateral refractory childhood glaucoma. 2872 25