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

Neurofibromatosis type 2 is a genetic autosomal dominant disorder caused by a spontaneous mutation in the gene located on chromosome 22 q11-13.1, which usually emerges in adolescence or early adulthood and is characterized by the development of bilateral vestibular schwannoma. We hereby report the classical case of Neurofibromatosis type 2 in a 25-year-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 vital 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 an upgoing plantar on the 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 were 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. The rest of the biochemical investigations, including serum electrolytes, liver function tests, and renal function tests, were also normal.MRI brain and spine confirmed bilateral acoustic neuroma and multiple cranial and peripheral nerve tumors i.e., classical presentation of a rare disease neurofibromatosis. He was referred to the neurology unit for further assessment and treatment.