Multiple CNS Tumors in a Patient With Neurofibromatosis Type 2: Classical Presentation of a Rare Diseas

Abstract

Neurofibromatosis type 2 is a genetic autosomal dominant disorder, caused by spontaneous mutation in the gene located on chromosome 22 q11-13.1,which usually emerges in adolescence or early adulthood and is characterized by development of bilateral vestibular schwannoma. We hereby report the classical case of Neurofibromatosis type 2 in a 25 years old young male with multiple tumors associated with the disease.This patient presented to us with 3 years history of multiple painless nodules on his skin, facial weakness , left sided progressive hearing loss and 20 days history of weakness in the left lower limb. On Examination he was vitally with a GCS of 15/15. He was anemic with no jaundice. He had left inguinal lymphadenopathy along with multiple subcutaneous nodules on different areas including the scalp, face, left mid axillary line over the abdomen.He also had Right sided facial palsy and horizontal nystagmus. CNS examination revealed upgoing plantar on left side, right facial nerve palsy and bilateral vestibulocochlear nerve paralysis. Spine examination revealed spinal tenderness in the lower lumbar region.Superficial abdominal reflexes were absent. Upper limb and right lower limb power, tone and reflexes were normal while the tone and power in the left lower limb was reduced power being ⅗. Reflexes were also exaggerated in the left lower limb. The right ankle showed swelling most probably a plexiform neuroma. On investigations he had normochromic normocytic anemia with mild leucocytosis. Platelets were normal. Rest of the biochemical investigations including serum electrolytes, liver function tests and renal function tests were also normal.MRI brain and spine confirmed bilateral accoustic neuroma and multiple cranial and peripheral nerves tumors i.e classical presentation of a rare disease neurofibromatosis.He was referred to neurology unit for further assesment and treatment.

Keywords

• Acoustic neuroma
• schwannoma
• Neurofibromatosis Type 2