Tumors associated with Von Hippel-Lindau disease

Tumors associated with Von Hippel-Lindau disease

see Cerebellar hemangioblastoma associated with Von Hippel-Lindau disease.

see Spinal cord hemangioblastoma.

see Brainstem hemangioblastoma.

see Pheochromocytoma

see Endolymphatic sac tumor.

see Retinal hemangioblastoma.

see Renal cell carcinoma associated with Von Hippel-Lindau disease.

a) 50–70% of Von Hippel-Lindau disease patients have bilateral and multiple renal cysts

b) rarely cause profound renal impairment

c) chronic renal failure or renal hypertension not as common as with polycystic kidney disease

a) benign lesions that arise from the epididymal duct

b) found in 10–60% of male VHL patients

c) typically appear in the teenage years

d) may cause infertility if bilateral

e) may be multiple

Broad ligament cystadenomas

a) arise from the embryonic mesonephric duct

b) true incidence unknown

c) rarely reported and usually not recognized in women with VHL

Pancreatic neuroendocrine tumors and cysts

a) 35 to 70% of patients with VHL develop an endocrine tumor or cyst

b) pancreatic cysts are generally asymptomatic and often multiple

c) pancreatic neuroendocrine tumors are usually non-functional and 8% of them are malignant

d) differential diagnosis: pancreatic islet cell tumors, MEN2

Sinonasal renal cell-like adenocarcinoma is an emerging tumor associated with VHL syndrome and it is hoped that future studies shed light on the underlying biology of this unique tumor 1).


1)

Maharaj S, Seegobin K, Wakeman K, Chang S, Potts K, Williams B, Redman R. Sinonasal renal cell-like adenocarcinoma arising in von Hippel Lindau (VHL) syndrome. Oral Oncol. 2022 Jan 5;125:105705. doi: 10.1016/j.oraloncology.2021.105705. Epub ahead of print. PMID: 34998175

Tumor associated trigeminal neuralgia

Tumor associated trigeminal neuralgia

Trigeminal neuralgia pathogenesis is uncertain. What is nominated as typically TN is idiopathic, but may be due to a structural lesion:

Posterior fossa tumor1) 2) 3) 4) 5), contralateral posterior fossa tumors, 6) 7)ipsilateral and contralateral supratentorial tumor8) 9) 10) 11) 12).

Trigeminal neuralgia in vestibular schwannoma 13).

Trigeminal neuralgia as the initial manifestation of temporal glioma 14).

A supratentorial tumor can initiate TN even without a direct involvement of the trigeminal ganglion or nerve. Such tumors may lead to increased intracranial pressure and brain shift generating a pressure cone that distorts the brain stemand displaces an adjacent vessel, compressing the trigeminal nerve root.

Another explanatory mechanism in a patient with supratentorial tumor and hydrocephalus can be that pressure over the trigeminal sensory root rather than stretching of the nerve fiber leads to TN 15).

References

1) , 6)

Deshmukh VR, Hott JS, Tabrizi P, Nakaji P, Feiz-Erfan I, Spetzler RF. Cavernous malformation of the trigeminal nerve manifesting with trigeminal neuralgia: Case report. Neurosurgery. 2005;56:E623.
2) , 9)

Deshpande S, Kaptain GJ, Pobereskin LH. Temporal glioblastoma causing trigeminal neuralgia. J Neurosurg. 1999;91:515.
3)

Gnanalingham K, Joshi SM, Lopez B, Ellamushi H, Hamlyn P. Trigeminal neuralgia secondary to Chiari’s malformation–treatment with ventriculoperitoneal shunt. Surg Neurol. 2005;63:586–8. discussion 588-9.
4) , 7) , 10)

Goel A, Sham A. Trigeminal neuralgia in the presence of ectatic basilar artery and basilar invagination: Treatment by foramen magnum decompression: Case report. J Neurosurg. 2009;111:1220–2.
5)

Peñarrocha-Diago M, Mora-Escribano E, Bagán JV, Peñarrocha-Diago M. Neoplastic trigeminal neuropathy: Presentation of 7 cases. Med Oral Patol Oral Cir Bucal. 2006;11:E106–11.
8)

Cirak B, Kimaz N, Arslanoglu A. Trigeminal neuralgia caused by intracranial epidermoid tumor: Report of a case and review of different therapeutic modalities. Pain Physician. 2004;7:129–32.
11)

Guttal KS, Naikmasur VG, Joshi SK, Bathi RJ. Trigeminal neuralgia secondary to epidermoid cyst at the cerebellopontine angle: Case report and brief review. Odontology. 2009;97:54–6.
12)

Love S, Coakham HB. Trigeminal neuralgia: Pathology and pathogenesis. Brain. 2001;124:2347–60.
13)

Apostolakis S, Karagianni A, Mitropoulos A, Filias P, Vlachos K. Trigeminal neuralgia in vestibular schwannoma: Atypical presentation and neuroanatomical correlations. Neurochirurgie. 2019 Mar 21. pii: S0028-3770(19)30024-4. doi: 10.1016/j.neuchi.2019.01.001. [Epub ahead of print] PubMed PMID: 30905383.
14)

Khalatbari M, Amirjamshidi A. Trigeminal neuralgia as the initial manifestation of temporal glioma: Report of three cases and a review of the literature. Surg Neurol Int. 2011;2:114. doi: 10.4103/2152-7806.83734. Epub 2011 Aug 13. PubMed PMID: 21886887; PubMed Central PMCID: PMC3162802.
15)

Cirak B, Kimaz N, Arslanoglu A. Trigeminal neuralgia caused by intracranial epidermoid tumor: Report of a case and review of different therapeutic modalities. Pain Physician. 2004;7:129–32.

Update: Overshunting associated myelopathy

Overshunting associated myelopathy” is a rare complication of CSF diversion that should be familiar to physicians who routinely evaluate patients with intracranial shunts 1) 2).

Only 12 previous cases have been reported in the literature 3).

OSAM has to be considered according to the Monro-Kellie hypothesis and is affected by an engorgement of the cervical epidural venous plexus, which can produce cervical myelopathy. Since it can be treated simply by increasing the shunt resistance, surgeons should be aware of the rarely detected overdrainage complication 4).

Classically, patients present with positional headache, but less common symptoms include neck pain and cranial nerve palsies.


A 45-year-old-patient with shunt-dependent, congenital hydrocephalus presented with an 8-year history of progressive tetraparesis and gait disorder in the Department of Neurosurgery, University of Tübingen, Germany. The patient was wheelchair-dependent. A new MRI scan of the head revealed slit ventricle syndrome and dural enhancement due to shunt overdrainage. An MRI and a CT-Phlebography of the cervical spine revealed engorgement of the epidural venous plexus with secondary compression of the spinal cord and myelomalacia. Surgery was performed during which we implanted a shunt valve. The patient recovered from surgery without any new deficits. The tetraparesis improved during the inpatient hospital stay. CT-Phlebography was performed 5 days after surgery and showed that the epidural venous plexus anterior to the cervical spinal cord had returned to nearly normal size. On follow-up examination 3 month after surgery, the patient´s strength had improved, and he was able to walk short distances with assistance and with ankle foot orthosis on the right side.

OSAM has to be considered according to the Monro-Kellie doctrine and is affected by an engorgement of the epidural cervical venous plexus, which can produce cervical myelopathy. Since it can be treated simply by increasing the shunt resistance, surgeons should be aware of the rarely detected overdrainage complication 5).


Ho et al., presented 2 cases of cervical myelopathy produced by engorged vertebral veins due to overshunting. Overshunting-associated myelopathy is a rare complication of CSF shunting. Coexisting cervical degenerative disc disease may further increase the difficulty of diagnosing the condition. Neurosurgeons and others who routinely evaluate patients with intracranial shunts should be familiar with this rare but possible diagnosis 6).


A 26-year-old woman with shunt-dependent, congenital hydrocephalus, presented with rapidly progressive cervical myelopathy following ventriculoperitoneal shunt revision. Imaging revealed engorgement of the cervical epidural venous plexus and mass effect on the cervical spinal cord. “Over-shunting associated myelopathy” is a rare complication of CSF diversion that should be familiar to physicians who routinely evaluate patients with intracranial shunts 7).

1) , 7)

Howard BM, Sribnick EA, Dhall SS. Over-shunting associated myelopathy. J Clin Neurosci. 2014 Dec;21(12):2242-4. doi: 10.1016/j.jocn.2014.05.014. Epub 2014 Jul 25. PubMed PMID: 25070631.

2) , 6)

Ho JM, Law HY, Yuen SC, Yam KY. Overshunting-associated myelopathy: report of 2 cases. Neurosurg Focus. 2016 Sep;41(3):E16. doi: 10.3171/2016.7.FOCUS16179. PubMed PMID: 27581312.

3) , 4) , 5)

Adib SD, Hauser TK, Engel DC, Tatagiba M, Skardelly M, Ramina K. Over-shunting associated myelopathy (OSAM) in a patient with bilateral jugular vein occlusion. World Neurosurg. 2018 Jun 1. pii: S1878-8750(18)31129-X. doi: 10.1016/j.wneu.2018.05.175. [Epub ahead of print] PubMed PMID: 29864573.
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