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

The 14-year-old girl was diagnosed with a brain tumor at the base of her left skull, growing from the petrous bone. The patient had previously 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.

The left skull base tumor developed from the petrous bone. MRI before surgery (right) and after surgery (left) - Photo: BVCC

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.

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.

This is a genetic disorder 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 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 early March, doctors performed a surgery that lasted from 8am to 10pm, removing 90% of the tumor and preserving the facial nerve thanks to the coordination with Dr. Dao Trung Dung, deputy head of the ENT department, Bach Mai Hospital.

"This is a serious, complicated case, the tumor is large (58x67x65mm), invading and destroying part of the petrous bone, pressing on the brain stem and surrounding brain parenchyma. Although the surgery was long and challenging, the patient was anesthetized and resuscitated well, so the patient recovered quickly without sequelae. The pathological results confirmed that the tumor was an endolymphatic sac, consistent with the initial diagnosis of the doctors," Mr. He added.

Although the surgery was long and challenging, the patient was well anesthetized and resuscitated, so he recovered quickly without any sequelae.

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 endolymphatic sac tumors are benign but 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.

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Source: https://tuoitre.vn/thieu-nu-14-tuoi-mac-u-nao-hiem-gap-do-hoi-chung-di-truyen-20250505091402271.htm