4 Von Hippel–Lindau Disease—Hemangioblastoma

Case 4 Von Hippel–Lindau Disease—Hemangioblastoma

Ramez Malak and Robert Moumdjian

Fig. 4.1 (A) T1-weighted magnetic resonance image (MRI) of the brain, axial cut through the posterior fossa. (B) T1-weighted MRI of the brain with contrast enhancement, sagittal cut.

Clinical Presentation

A 32-year-old man presents with nausea, vomiting, and headache for the last week.

He is otherwise neurologically intact.

Magnetic resonance imaging (MRI) scan of his brain is shown in Fig. 4.1.

Questions

Interpret the MRI scan (Fig. 4.1).
What is your initial management?
Give a differential diagnosis of cerebellar lesions. Which is the most likely?
Provide diagnostic criteria of Von Hippel–Lindau disease (VHL), associated systemic lesions, and chromosomal abnormalities.
Name other phakomatoses and their main features.
Describe the preoperative evaluation for this hemangioblastoma.
What are the treatment options?
Describe your postoperative follow-up.
A spinal MRI demonstrates hemangioblastoma at the T5 level. What is your management (Fig. 4.2)?

Fig. 4.2 T1-weighted magnetic resonance image of the thoracic spine with contrast enhancement, midsagittal cut.

Answers

Interpret the computed tomography (CT) scan.

Nonenhanced MRI T1-weighted scan (Fig. 4.1A) shows a cystic lesion in the left cerebellar hemisphere, ~1 cm in diameter with associated edema and no mass effect on the 4th ventricle. There is no hydrocephalus.

Sagittal view T1-weighted with contrast (Fig. 4.1B) shows a cystic cerebellar lesion with densely enhancing nodule. The cyst wall does not enhance.
What is your initial management?
- Admission to intensive care unit
- Symptomatic treatment: analgesics, antiemetics, hydration with i.v. fluids
- Dexamethasone could be indicated in the presence of vasogenic edema.
- Initial blood workup: complete blood count, electrolytes, coagulation profile, type and screen
- Be prepared to place a ventriculostomy if patient decompensates.
- If an urgent shunt is indicated for acute hydrocephalus (rare), keep draining at a low rate (10–15 mL/h) to avoid overdrainage and upward herniation.
Given a differential diagnosis of cerebellar lesions, which is the most likely?
- Hemangioblastoma (the most likely), metastasis, medulloblastoma, pilocytic astrocytoma, ependymoma, choroid plexus papilloma, brainstem glioma, abscess, cavernous angioma, hemorrhage, infarction
Provide diagnostic criteria of VHL and associated systemic lesions.
- The hallmark features of the condition include^1,2
  - – Retinal angiomas
  - – Hemangioblastomas of the cerebellum and spinal cord
  - – Renal cell carcinomas (RCCs)
- Additionally, this condition can cause
  - – Angiomatous or cystic lesions in the kidneys, pancreas, and epididymis
  - – Adrenal pheochromocytomas, polycythemia
- Minimal diagnostic criteria
  - – If positive family history of VHL, one of the following: retinal or cerebellar hemangioblastoma, RCC, or pheochromocytoma
  - – In an isolated case: Two or more retinal or central nervous system hemangioblastomas or a single hemangioblastoma and a characteristic visceral tumor
Name other phakomatoses and their main features.
- See Table 4.1.³
- Other, less common : incontinentia pigmenti, ataxia, telangiectasia, Peutz–Jeghers syndrome, Osler– Weber–Rendu syndrome
Describe the preoperative evaluation for this hemangioblastoma.
- Craniospinal MRI
- Ophthalmologic examination
- Abdominal CT scan
- Laboratory work (to rule out polycythemia)
- 24-Hour urine metanephrine vanillylmandelic acid, homovanillic acid, and catecholamine determinations
- Genetic screening for VHL gene
- Cerebral angiography and embolization (especially for solid highly enhancing nodules) to decrease preoperative bleeding
What are the treatment options?
- The aim of surgical treatment remains the complete removal of the hemangioblastoma.
- However, multiplicity of lesions and their frequent proximity to vital structures can preclude complete excision. Only symptomatic lesions should be operated.
- Surgical technique
  - – Suboccipital craniotomy
  - – Cervicospinal fluid draining via cisterna magna
  - – Aspiration of the cyst content
  - – En bloc removal of the nodule to avoid profuse bleeding by dissecting along the gliotic margin and by dividing vascular supply.
  - – The cyst wall should not be removed because it does not contain tumor.
  - – Careful closure is critical because of frequent recurrences and need for reexploration.⁴
- Radiosurgery for hemangioblastomas
  - – Radiosurgery controls the majority of primary and recurrent hemangioblastomas less than 3 cm in size. Radiosurgery also offers the ability to treat multiple lesions in a single treatment session. With cystic tumors, radiosurgery does not reduce the cyst size, and additional surgical removal or repeated evacuations of the cyst may be necessary.⁵
Describe your postoperative follow-up.
- Hemangioblastomas are slow-growing tumors, but a risk of rapidly enlarging cysts is still present and a striking tendency for multiple occurrences is habitual in VHL disease.
- Pregnancy can be accompanied by the enlargement of a cyst within a few months, sometimes leading to dramatic complications for both mother and fetus.
- Regular surveillance includes periodic craniospinal gadolinium-enhanced MRI, abdominal CT scan or ultrasonography, urinary metanephrins, and ophthalmoscopy, for both early diagnosis and follow-up of different manifestations. Rising hematocrit may mean progression or recurrence. The periodicity of specific examinations depends on age, number, and type of manifestations in each patient. We generally repeat craniospinal MRI every 6 months in the presence of lesions and later yearly if stable.
A spinal MRI demonstrates hemangioblastoma at the T5 level. What is your management (Fig. 4.2)?
- Symptomatic or growing lesions should be treated surgically.
- Microneurosurgery has improved outcome and safe tumor removal in patients with intramedullary tumors.
- Preoperative embolization may be considered.
- Because of its well-defined margins, careful surgical removal of this benign lesion provides a cure.
- It is important to stay just outside the lesion to avoid uncontrollable bleeding, and draining veins must be preserved until the arterial supply has been interrupted.⁶