14-year-old female patient with rare brain tumor due to genetic syndrome Von Hippel-Lindau

NDO - The patient with endolymphatic sac tumor in a genetic disease is a special case, among 3 rare cases recorded over the past 10 years at Viet Duc Friendship Hospital.

A 14-year-old female 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 two 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, causing concern. At the end of February 2025, the family decided to take the patient to Viet Duc Friendship Hospital for examination. Here, the patient was diagnosed with a temporal brain tumor.

Associate Professor, Doctor Dong Van He - Deputy Director of Viet Duc Friendship Hospital, Director of the Neurosurgery Center said: After a consultation with the neuro-oncology council and ENT doctors, experts at Viet Duc Friendship Hospital 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 bone marrow.

In particular, in this case, the patient had a very rare tumor, an endolymphatic sac tumor.

Associate Professor, Doctor Dong Van He - Deputy Director of Viet Duc Friendship Hospital, Director of Neurosurgery Center examines pediatric patients.

The patient's illness journey attracted attention because the patient's father also had hemangioblastoma in the posterior fossa, had surgery in Ho Chi Minh City but then had to have surgery again at Viet Duc Friendship Hospital due to complications of cerebrospinal fluid leakage.

In addition, the patient's father had surgery for a renal cell tumor. The patient also had renal and pancreatic cysts, typical signs of Von Hippel-Lindau syndrome.

In coordination with Dr. Dao Trung Dung, Deputy Head of the Department of Otorhinolaryngology, Bach Mai Hospital, on March 6, the doctors performed a surgery lasting from 8am to 10pm, removing 90% of the tumor and preserving the facial nerve.

This is a severe, complicated case, the tumor is large (58x67x65mm), invades and destroys part of the petrous bone, compresses the brain stem and surrounding brain parenchyma.

Although the surgery was long and challenging, with good anesthesia and resuscitation by the team of doctors Bui Thi Hanh, Center for Anesthesia and Surgical Resuscitation, Viet Duc Friendship Hospital, the patient recovered quickly without any sequelae. The pathological results confirmed that the tumor was an endolymphatic sac, consistent with the initial diagnosis of the doctors.

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 will continue to be monitored and consulted with the neuro-oncology council to determine the next treatment direction.

Source: https://nhandan.vn/benh-nhan-nu-14-tuoi-mac-u-nao-hiem-gap-do-hoi-chung-di-truyen-von-hippel-lindau-post877267.html