Multiple primary cranio-spinal tumours in a 13-year-old female with neurofibromatosis type 2 management strategy.
BACKGROUND
Neurofibromatosis type 2 (NF2) is an inherited, rare autosomal dominant syndrome characterised by the development of multiple benign cranial and spinal tumours, peripheral neuropathy, ophthalmological and cutaneous lesions. Herein, we report one case of NF2 treated with multivariate chemotherapy.


METHODS
A 13-year-old female presented with multiple cranio-spinal tumours in MRI. First symptoms were progressive changes in vision, left-sided paresis, unilateral sensorineural hearing loss, and left hypoglossal nerve paresis. The patient underwent palliative, partial surgical resection of the tumour which was located in a posterior fossa. Histopathological examination showed a psammomatous meningioma located near the great foramen and schwannomas of VIII nerve in the cerebello-pontine angle. Clinical and radiological examination revealed a rapid progression of the disease. As such, multivariate chemotherapy was used. The patient died 4 years after diagnosis.


CONCLUSIONS
NF2 patients with multiple tumours at diagnosis may not be treatable with surgery alone and, as a result, presentation with such a disease in childhood results in poor prognosis. The unification of management strategies in NF2 patients is highly desirable.
Stachowicz-Stencel
Teresa
T
Department of Paediatrics, Haematology, Oncology and Endocrinology, Medical University of Gdansk, 7 Debinki Street, Gdansk, Poland. tsten@gumed.edu.pl
Synakiewicz
Anna
A
Bien
Ewa
E
Adamkiewicz-Drozynska
Elzbieta
E
Wybieralska-Dubaniewicz
Miroslawa
M
Balcerska
Anna
A
D000293:Adolescent; D000971:Antineoplastic Combined Chemotherapy Protocols / Q000627:therapeutic use; D001932:Brain Neoplasms / Q000209:etiology / Q000473:pathology* / Q000628:therapy; D003131:Combined Modality Therapy; D017809:Fatal Outcome; D005260:Female; D006801:Humans; D016518:Neurofibromatosis 2 / Q000150:complications / Q000473:pathology* / Q000628:therapy; D019635:Neurosurgical Procedures; D013120:Spinal Cord Neoplasms / Q000209:etiology / Q000473:pathology* / Q000628:therapy