ID #214 Ependymomas and Cataract in Neurofibromatosis Type 2 (NF2): A Case Report of Multidisciplinary Care in a New Pediatric Oncology Center of Vietnam
Thi Thanh An Dao, Duy Khai NguyenAbstract
Background
Neurofibromatosis type 2 (NF2) is a rare genetic autosomal dominant disorder. Its sign is the presence of bilateral schwannomas with multiple spine tumors. Ependymomas account for more than 75% of intramedullary spinal cord are usually low-grade and especially located in the lower cervical and upper thoracic spine.
Objectives
We present a case report of a 14-year-old boy diagnosed with spine ependymoma Grade II in the context of Neurofibromatosis Type 2 (NF2) syndrome, a rare genetic disorder characterized by the development of multiple central nervous system tumors.
Finding
The patient presented with mild numbing of both legs and blurred vision left eye. Clinical examination found decreased muscle tone of both legs to 2/5 and cataract of the left eye. Magnetic resonance imaging (MRI) revealed enlarged L4-5-S1 nerve roots on both sides, enlarged multiple nerve roots of C6-C7, D1-D2-D4-D6-D7-D9 s/o Schwannomas; a well-defined mass in the epidural area in the L4-L5 region. Genetic testing confirmed an autosomal mutation in chr22: 29655663, which was aligned with the NF2 syndrome. Surgical resection of the tumor at the L4-L5 region was performed. Histopathological analysis showed positive with synaptophysin, vimentin, and S100, negative with EMA and GFAP, confirming the diagnosis of grade II ependymoma (WHO classification). CSF was negative for cancer cells. Patient followed by adjuvant chemotherapy with VEC, 2 cycles. The cataract surgery was done at City Eye’s Hospital. Post-treatment, the patient showed significant improvement in neurological function, and the vision in the left eye improved to 4/10. The patient was followed up by clinical examination and MRI 6 months after treatment and remains stable.
Conclusion
This case highlights the importance of considering NF2 in pediatric patients with spine ependymoma and multiple schwannomas of the neurological root and cataract. Early recognition and multidisciplinary care are critical for optimizing outcomes in NF2-associated ependymomas.