New vascular findings in PIK3CA Related Overgrowth Syndrome: Rapidly progressive, inoperable hemangioma with associated AVM managed with stereotactic body radiotherapy

Posted By Daphne Scarpelli
New vascular findings in PIK3CA Related Overgrowth Syndrome: Rapidly progressive, inoperable hemangioma with associated AVM managed with stereotactic body radiotherapy

Gender, Age

Male, 11

Diagnosis

PIK3CA hemi-hypertrophy syndrome who has a L3 vertebral body hemangioma with both posterior cortical and pedicular expansion

History

An 11-year-old male patient presented with a history featuring a confirmed PIK3CA mutation causing hemihypertrophy as well as high flow arteriovenous malformation and progressing hemangioma. Within a month from an imaging diagnosis of hemangioma and no observation of any neurological deficit, the patient presented with back pain and gait issues. He was admitted to the hospital from the clinic and underwent a partial L2 and full L3 laminectomy followed by embolization and stereotactic body radiation therapy. Eight months from following SBRT, the patient exhibited improved strength in extremities and reported no pain. Recent MRI indicated no evidence of disease progression.

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