Bilateral lower limb paralysis as initial symptom of neurofibromatosis type 2: A case report

Abstract

Neurofibromatosis type 2 (NF2) is an autosomal dominant disorder characterized by multiple tumors including schwannomas, meningiomas and ependymomas of the central nervous system. Although paresthesias, muscle weakness, muscle atrophy, and gait unsteadiness have been reported as clinical symptoms of spinal tumors, there are no reports of patients with NF2 who developed paralysis. A 7-year-old female consulted with our hospital because of sudden bilateral lower limb paralysis. She had not recognized the abnormalities, including paralysis, paraplegia and muscle weakness of bilateral lower limb before administration. Because of the aggravated bilateral patellar tendon reflexes, Achilles tendon reflexes, and the positive bilateral Babinski reflexes, a magnetic resonance imaging (MRI) of the spinal cord was performed. MRI revealed multiple spinal tumors in the cervical, thoracic, lumbar, and sacral regions. In particular, a 12 mm ×  33 mm spinal tumor was present in the thoracic region and was pressing against the spinal cord. Surgery was urgently performed to remove the spinal tumor in the thoracic region. Histopathological examination revealed that the tumor was a schwannoma. Gadolinium-enhanced MRI of the head was performed to explore the intra-cranial lesions: bilateral vestibular schwannomas and tumors in the left oculomotor nerve and right glossopharyngeal nerve were also discovered. Auditory brainstem response was performed to evaluate the bilateral VSs, and the results were normal. Nine months after the surgery, MRI of the head and spinal cord showed that her tumors had not increased in size. This represents the first reported case of NF2 complicated bilateral lower limb paralysis as initial neurological symptom.