A rare case of neurofibromatosis – type 1

Neurofibromatosis type 1 (NF1), also known as von Recklinghausen disease, is an autosomal dominant familial tumor syndrome. Glioblastoma is a malignant brain tumor but is a rare occurrence in patients with NF1. Here, we report a rare occurrence of glioblastoma in a 60-year-old man with NF1, who presented with headache, neck pain, and gait unsteadiness of 3 days duration. He also had postural hypotension. Motor examination revealed left hemiparesis. Multiple subcutaneous soft swellings and multiple café-au-lait spots were seen all over his body. He also had inguinal and axillary freckling. Abdominal imaging revealed a right suprarenal mass suggestive of cystic pheochromocytoma. Brain imaging revealed a predominantly cystic intra-axial right frontal space occupying lesion (SOL) with enhancing solid component, perilesional edema, and mass effect. The patient underwent laparoscopic removal of right adrenal mass after being adequately “blocked” by an alpha blocker-prazosin. Thereafter, he underwent right frontal craniotomy and gross total excision of right frontal infiltrative SOL. The postoperative period was uneventful. Patient underwent adjuvant radiotherapy and chemotherapy.