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Primitive neuroectodermal tumour metastases mimicking neurofibromatosis type 2
N C Chotai1, P H Tang, B K Gan
1Department of Diagnostic Imaging, Tan Tock Seng Hospital, 11 Jalan Tan Tock Seng, Singapore.
Singapore Medical Journal
|July 27, 2010
Summary
Bilateral vestibular schwannomas, typical of neurofibromatosis type 2 (NF-2), can mimic other conditions. This case highlights a rare primitive neuroectodermal tumor presenting as extensive craniospinal malignancy in a young child.
Area of Science:
- Neuro-oncology
- Pediatric Oncology
- Genetics
Background:
- Bilateral vestibular schwannomas are hallmarks of neurofibromatosis type 2 (NF-2).
- NF-2 diagnosis typically involves these characteristic tumors.
- Early identification is crucial for management.
Observation:
- A 3-year-old boy presented with left facial nerve palsy and weight loss.
- He had bilateral large cerebellopontine (CP) angle masses extending into the internal auditory canal, confirmed by MRI.
- Synchronous tumors were found in the lateral ventricle and spinal canal.
Findings:
- Initial assessment suggested NF-2 with associated schwannomas and meningiomas.
- Histological examination of spinal masses revealed a primitive neuroectodermal tumor (PNET).
- This diagnosis differed significantly from the presumed NF-2 related tumors.
Implications:
- While bilateral CP masses suggest NF-2, extensive tumors in young children warrant considering diffuse craniospinal malignancy.
- This case underscores the importance of histological confirmation to avoid misdiagnosis.
- It highlights the need for a broad differential diagnosis in pediatric oncology, especially with atypical presentations.
