14-year-old girl has rare brain tumor due to genetic syndrome Von Hippel-Lindau

(PLVN) - According to information from Viet Duc Friendship Hospital, the patient is a 14-year-old female diagnosed with a brain tumor at the base of the left skull, developing from the petrous bone.

Previously, the patient had undergone surgery twice at two major hospitals in Ho Chi Minh City, but both times 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 anxiety. 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.

Sharing about this special case, Associate Professor, Dr. 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 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 spinal cord. In particular, in this case, the patient had a very rare tumor, an endolymphatic sac tumor.

The patient’s illness journey attracted attention because 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 Friendship 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, 2025, the doctors performed surgery from 8:00 a.m. to 10:00 p.m., removing 90% of the tumor and preserving the facial nerve thanks to the coordination with Dr. Dao Trung Dung, Deputy Head of the Department of Otorhinolaryngology, Bach Mai Hospital. This was a serious, complicated case, the tumor was large (58x67x65mm), invaded and destroyed part of the petrous bone, pressing on the brain stem and surrounding brain parenchyma. The patient recovered quickly without leaving any sequelae. The pathological results confirmed that the tumor was an endolymphatic sac, consistent with the initial diagnosis of the doctors.

The patient recovered quickly without any sequelae. Photo: Provided by the hospital

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.

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 pathology.

Ngoc Nga

Source: https://baophapluat.vn/thieu-nu-14-tuoi-mac-u-nao-hiem-gap-do-hoi-chung-di-truyen-von-hippel-lindau-post547430.html