Unknown etiology, Unusual clinical course, Challenging differential diagnosis, Educational Purpose (only if useful for a systematic review or synthesis), Rare coexistence of disease or pathology
Rana Moshref, Abeer Mirdad
Department of Neurosurgery, King Abdulaziz University Hospital, Jeddah, Saudi Arabia
Am J Case Rep 2021; 22:e933090
Available online: 2021-08-04
Neurofibromatosis (NF) is categorized into 3 diseases: neurofibromatosis type 1, type 2, and schwannoma. NF2 is associated with a mutation in gene 22q11.2. It is present in about 1/25 000 to 33 000 births, and it is passed in an autosomal dominant fashion. Diagnosis is made based on clinical and radiological features. A few clinical features have been characterized and included in the Manchester criteria. A few neurofibromatosis type 2 patients have been diagnosed with over 25 cervical lesions. We report a case of an intradural extramedullary cervical lesion in a patient later diagnosed with neurofibromatosis type 2.
CASE REPORT: The patient was 30-year-old man admitted through the emergency unit, presenting with gradual onset and progressive spastic quadriparesis of 6 months duration. An MRI spine showed intradural extramedullary masses in the right side of C4 and left side of C6. He underwent cervical intradural excision of 2 masses under general anesthesia with neuromonitoring. The tumor was sent to histopathology and reported as neurofibromatosis 2.
CONCLUSIONS: Neurofibromatosis is a common entity, but the diagnosis of a cervical mass is judicious to avoid any misfortune in neurological function. It requires a multidisciplinary approach and screening modalities.
Keywords: Cervical Cord, Neurofibromatosis 2, Spinal Cord Neoplasms