(Left) Axial NECT in a 19-yearold man in the ER for trauma

shows a "nipple" or

outpouching of the left lateral

ventricle ﬇ that extends into

a full-thickness cerebrospinal

fluid cleft ﬈. The cleft is lined

with heterotopic gray matter

st. This is a classic unilateral

schizencephaly. (Right)

Coronal T2WI shows large

bilateral open-lip

schizencephalic clefts ﬇.

Trauma, and Stroke

Brain: Pathology-Based Diagnoses: Malformations,

23

von Hippel-Lindau Syndrome

KEY FACTS

TERMINOLOGY

• Autosomal-dominant familial syndrome with

hemangioblastomas (HGBLs), clear cell renal carcinoma,

cystadenomas, pheochromocytomas

IMAGING

• 2 or more CNS HGBLs or 1 HGBL plus visceral lesion or

retinal hemorrhage

• HGBLs vary from tiny mass to very large with even larger

associated cysts

TOP DIFFERENTIAL DIAGNOSES

• Vascular metastasis

• Solitary HGBL

• Pilocytic astrocytoma

• Hemispheric medulloblastoma in teenager or young adult

• Multiple arteriovenous malformations in vascular

neurocutaneous syndrome

PATHOLOGY

• von Hippel-Lindau (VHL) phenotypes, subtypes based on

absence or presence of pheochromocytoma

○ Type 1: Low risk of pheochromocytoma

○ Type 2: High risk of pheochromocytoma

– Type 2A (low risk of renal cell carcinoma)

– Type 2B (high risk of renal cell carcinoma)

– Type 2C (familial pheochromocytoma without either

HGBL or Rathke cleft cyst)

CLINICAL ISSUES

• Earliest symptom in VHL often visual

○ Retinal HGBL, peak in teenage years

• HGBLs → multiple periods of tumor growth (usually

associated with increasing cyst size) separated by periods of

arrested growth

DIAGNOSTIC CHECKLIST

• Check retina, cerebellum

(Left) Funduscopic

examination in a patient with

von Hippel-Lindau syndrome

(VHL) shows a peripheral

retinal angioma ﬊ supplied

by prominent arteries ﬈.

(Right) Sagittal graphic shows

2 hemangioblastomas (HGBLs)

in VHL. In this patient, the

spinal cord tumor has an

associated cyst ﬊ and would

cause myelopathy. The small

cerebellar HGBL would be

asymptomatic.

(Left) Sagittal T1C+FS MR in a

patient with VHL shows

multiple cerebellar ſt, spinal

HGBLs st. (Right) Coronal T1

C+ FS in an asymptomatic 26-

year-old man with pancreatic

cysts and a family history of

VHL shows 2 solid ſt and 1

cystic HGBL with a mural

nodule ﬊.

Brain: Pathology-Based Diagnoses: Malformations,

Trauma, and Stroke

24