3 days ago
Treatment of rare genetic disorder in 23-year-old woman prevents loss of vision and life
A 23-year-old Chennai resident was successfully treated at a city hospital for a rare and life-threatening condition—cortical venous thrombosis (CVT) with bilateral papilloedema—caused by hereditary hyperhomocysteinemia.
A press release said that prompt intervention by the neurology team at Iswarya Hospital, OMR saved her vision and prevented a potentially fatal stroke.
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.
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.
Balasubramaniam, Senior Consultant Neurologist, stressed the importance of fundus exams in young patients with persistent headaches to detect papilledema early.
