Teenage girl has rare brain tumor caused by genetic syndrome that causes blood vessel disorder

On May 5, Viet Duc Friendship Hospital announced that it had just received a 14-year-old female patient with a rare brain tumor caused by the genetic syndrome Von Hippel-Lindau, which causes blood vessel disorders in the body.

The patient was diagnosed with a brain tumor at the base of the left skull, growing from the petrous bone. Previously, the patient had undergone surgery twice at major hospitals in Ho Chi Minh City but only stopped at tumor biopsy, with the initial diagnosis being a hemangioma in the bone. However, after surgery, the patient still had intermittent ear bleeding. At the end of February 2025, the family took the patient to Viet Duc Friendship Hospital for examination. Here, the patient was diagnosed with a temporal brain tumor.

Associate Professor Dong Van He - Deputy Director of Viet Duc Friendship Hospital, Director of the Neurosurgery Center said that after a consultation with the neuro-oncology council and ENT doctors, experts suspected that the patient had Von Hippel-Lindau syndrome - a genetic disease that causes blood vessel disorders in the body, leading to hemangioblastomas in the brain, hemangioblastomas in the kidneys, hemangiomas in the pancreas and locations in the spinal cord. In particular, in this case, the patient had a very rare tumor, an endolymphatic sac tumor.

The patient's father also had a hemangioma in the posterior fossa, which was operated on in Ho Chi Minh City but then had to be re-operated on at Viet Duc Hospital due to complications of cerebrospinal fluid leakage. In addition, the patient's father also had surgery for a renal cell tumor. The patient herself also had cysts in her kidneys and pancreas, typical signs of Von Hippel-Lindau syndrome.

On March 6, doctors performed a surgery lasting from 8am to 10pm, removing 90% of the tumor and preserving the facial nerve thanks to the coordination with experts from the Department of Otorhinolaryngology (Bach Mai Hospital). This was a serious, complicated case, with a large tumor (58x67x65mm), invading and destroying part of the petrous bone, pressing on the brain stem and surrounding brain parenchyma.

The surgery was long and challenging but successful. The patient recovered quickly, with no sequelae. Pathology results confirmed that the tumor was an endolymphatic sac, consistent with the doctors' initial diagnosis.

After surgery, the patient was more stable, had no serious neurological complications, and the seventh nerve palsy did not increase (the patient had had seventh nerve palsy before). However, because the endolymphatic sac tumor is a benign tumor but is prone to recurrence, the patient needs to continue to be monitored and consulted with the neuro-oncology council to determine the next treatment direction.

This patient is a special case, among 3 rare cases recorded over the past 10 years at Viet Duc Friendship Hospital, showing the rarity of endolymphatic sac tumors in genetic diseases./.

(Vietnam+)

Source: https://www.vietnamplus.vn/thieu-nu-mac-u-nao-hiem-gap-do-hoi-chung-di-truyen-gay-roi-loan-mach-mau-post1036625.vnp