von hippel lindau disease
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Background: Hemangioblastomas commonly occur in the posterior fossa and are typically attributed to sporadic or familial Von Hippel–Lindau disease. Spinal hemangioblastomas, found in 7–10% of patients, are usually located within the cord (i.e., intramedullary). Here, a 58-year-old male presented with a purely extradural hemangioblastoma involving a spinal root that was surgically excised. Case Description: A 58-year-old male was admitted with a progressive paraparesis and incomplete sensory deficit. The magnetic resonance imaging documented a solid dumbbell-shaped lesion that extended through the left T3-T4 foramen resulting in nerve root and spinal cord compression. Following arterial embolization and lesion excision by both neurosurgeons and thoracic surgeons, the patient’s deficits improved. The postoperative computed tomography scan documented complete tumor removal, and the neuropathology revealed a hemangioblastoma. Conclusion: Here, we describe a 58-year-old male with a purely extradural thoracic foraminal T3-T4 dumbbell-shaped hemangioblastoma successfully treated by both embolization and surgical excision.

AbstractCauda equina intradural tumors commonly reported include ependymoma, schwannoma, neurofibroma, meningioma, and drop metastasis. Hemangioblastoma of the neural axis is a rare benign vascular tumor comprising only 1.6 to 6.4% of spinal tumors, and are usually associated with Von-Hippel Lindau disease. Sporadic intradural extramedullary hemangioblastoma involving cauda equina is very rare with only countable reports, and the presence of peritumoral cyst has been reported only once. We report one such case of hemangioblastoma with a large peritumoral cyst, which was diagnosed radiologically and confirmed by histopathology following surgical excision. Pertinent radiological characteristics, diagnostic clues, treatment, and surgical outcomes are discussed.

BACKGROUND Surgery at the cervicomedullary junction carries a risk of damaging vital brainstem functions. Because the nucleus of the solitary tract (NS) is involved in the baroreceptor reflex, damage to its integrity may lead to orthostatic hypotension. OBSERVATIONS A 56-year-old man with a medical history of hypertension, von Hippel-Lindau disease, and previous bilateral adrenalectomy due to pheochromocytoma was referred with symptoms of dysphagia and paralysis of the left vocal cord. Paralysis of the left vagus nerve was suspected. Magnetic resonance imaging revealed a contrast-enhancing cystic process in the cervicomedullary junction. Twenty-three years earlier, the patient had undergone surgical treatment for a hemangioblastoma in the same region. After repeated surgery, the patient temporarily developed orthostatic hypotension. At discharge, the patient no longer needed antihypertensive medication. LESSONS Surgery near the cervicomedullary junction can affect the NS, leading to disruption of the baroreceptor response that regulates blood pressure.

This chapter begins with genetic testing for monogenic endocrine disorders, and then goes on to define the diagnosis, treatment, and management of McCune-Albright syndrome, neurofibromatosis, von Hippel-Lindau disease, Carney complex, Cowden syndrome, and POEMS syndrome. It then goes on to the clinical features and management of MEN type 1 and MEN type 2, and MEN type 4. Inherited primary hyperparathyroidism, phaeochromocytoma-paraganglioma syndromes, and renal calculi.