{"id":161091,"date":"2025-06-05T20:10:10","date_gmt":"2025-06-05T20:10:10","guid":{"rendered":"https:\/\/www.europesays.com\/uk\/161091\/"},"modified":"2025-06-05T20:10:10","modified_gmt":"2025-06-05T20:10:10","slug":"treatment-of-rare-genetic-disorder-in-23-year-old-woman-prevents-loss-of-vision-and-life","status":"publish","type":"post","link":"https:\/\/www.europesays.com\/uk\/161091\/","title":{"rendered":"Treatment of rare genetic disorder in 23-year-old woman prevents loss of vision and life"},"content":{"rendered":"<p>A 23-year-old Chennai resident was successfully treated at a city hospital for a rare and life-threatening condition\u2014cortical venous thrombosis (CVT) with bilateral papilloedema\u2014caused by hereditary hyperhomocysteinemia.\u00a0<\/p>\n<p>A press release said that prompt intervention by the neurology team at Iswarya Hospital, OMR saved her vision and prevented a potentially fatal stroke.<\/p>\n<p>She presented with a severe headache and persistent vomiting, the release said. MRI revealed CVT, where clots obstruct brain venous drainage, raising intracranial pressure. Fundus examination confirmed bilateral papilloedema. Further testing identified hyperhomocysteinemia, a rare genetic disorder that significantly increases clotting risk in young people.<\/p>\n<p>To relieve pressure, doctors performed a lumboperitoneal (LP) shunt surgery using a programmable valve typically reserved for brain shunts. The three-hour surgery was successful, with post-op imaging showing improvement. She was discharged in stable condition, the release added.\u00a0<\/p>\n<p>Balasubramaniam, Senior Consultant Neurologist, stressed the importance of fundus exams in young patients with persistent headaches to detect papilledema early.\u00a0<\/p>\n<p class=\"publish-time-new\"> Published &#8211; June 06, 2025 12:13 am IST<\/p>\n","protected":false},"excerpt":{"rendered":"A 23-year-old Chennai resident was successfully treated at a city hospital for a rare and life-threatening condition\u2014cortical venous&hellip;\n","protected":false},"author":2,"featured_media":8887,"comment_status":"","ping_status":"","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[3846],"tags":[267,70,16,15],"class_list":{"0":"post-161091","1":"post","2":"type-post","3":"status-publish","4":"format-standard","5":"has-post-thumbnail","7":"category-genetics","8":"tag-genetics","9":"tag-science","10":"tag-uk","11":"tag-united-kingdom"},"share_on_mastodon":{"url":"https:\/\/pubeurope.com\/@uk\/114632577948358516","error":""},"_links":{"self":[{"href":"https:\/\/www.europesays.com\/uk\/wp-json\/wp\/v2\/posts\/161091","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/www.europesays.com\/uk\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/www.europesays.com\/uk\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/www.europesays.com\/uk\/wp-json\/wp\/v2\/users\/2"}],"replies":[{"embeddable":true,"href":"https:\/\/www.europesays.com\/uk\/wp-json\/wp\/v2\/comments?post=161091"}],"version-history":[{"count":0,"href":"https:\/\/www.europesays.com\/uk\/wp-json\/wp\/v2\/posts\/161091\/revisions"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/www.europesays.com\/uk\/wp-json\/wp\/v2\/media\/8887"}],"wp:attachment":[{"href":"https:\/\/www.europesays.com\/uk\/wp-json\/wp\/v2\/media?parent=161091"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/www.europesays.com\/uk\/wp-json\/wp\/v2\/categories?post=161091"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/www.europesays.com\/uk\/wp-json\/wp\/v2\/tags?post=161091"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}