Fact-sheet: Von Hippel-Lindau disease
Updated on 09/17/2021 at 12:16 PM
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Definition
Rare autosomal dominant hereditary disease, with high penetrance but variable expressivity, due to inactivation of the VHL tumor suppressor gene.
Rare cases of de novo VHL disease.
Multi-organ involvement: central nervous system, inner Ear, abdomen (Kidney, Pancreas, Adrenal glands).
Central nervous system: hemangioblastoma.
Inner Ear: endolymphatic sac tumor.
Renal lesions: cyst, clear cell carcinoma.
Pancreatic lesions: single or multiple simple cysts, serous cystadenomas, neuroendocrine tumor.
Adrenal lesions: Pheochromocytoma.
External genital organs: papillary cystadenoma of the epididymis
Clinical features
Multi-organ involvement: .
Central nervous system: Hemangioblastoma
- Cerebellum, brain, retina, spinal cord, brainstem
- predominantly cerebellar involvement (50-75%)
- Rare infratentorial lesions (1-6%)
- Nonspecific clinical presentation: headaches, vomiting, ataxia, vertigo, nystagmus.
Inner Ear: endolymphatic sac tumor
- Hearing loss, vestibular dysfunction, peripheral facial palsy
- Located in the posterior part of the petrous bone
CT
. Central nervous system: hemangioblastoma
- 4 imaging patterns
- Cystic forms: pure cyst 5%; cyst + nodule 60%
- Solid forms: solid 26%; mixed 9%
. Inner Ear: endolymphatic sac tumor
- bone destruction
- reticulated intratumoral bone
- peripheral calcifications
. Renal lesions:
- Clear cell carcinoma: solid, hypervascular mass, heterogeneous enhancement, necrotic-hemorrhagic changes, calcifications, venous invasion
- Cyst
. Pancreatic lesions:
- Single or multiple simple cysts (50-90%): hypodense, non-enhancing
- Serous cystadenomas (15%): cystic lesion with a mulberry-like appearance, central scar, thin septa, and central calcification
- Neuroendocrine tumor (5-15%): homogeneous lesion, hypo-/isodense to the Pancreas, marked enhancement after contrast injection
- Branch-duct IPMN
. Adrenal lesions: Pheochromocytoma
MRI
. Hemangioblastoma:
- Cystic forms: pure cyst 5%; cyst + nodule 60%
- Solid forms: solid 26%; mixed 9%
- Cystic portion shows T2 high signal, with a mural nodule showing marked enhancement after contrast administration
. Endolymphatic sac tumor:
- peripheral T1 high signal or
- focal T1 hyperintense foci
- heterogeneous enhancement