Von Hippel Lindau syndrome

Case contributed by Dr Irvine Sihlahla

Presentation

Chronic history of headaches, right visual loss and abdominal pain. The patient has sensation and motor weakness in the legs

Patient Data

Age: 35 years
Gender: Male

Abdomen

Ultrasound

Bilateral hyperechoic solid-cystic renal lesions. Normal corticomedullary differentiation and no hydronephrosis.

abdomen

CT

Bilateral enhancing renal lesions largest in right mid pole. No evidence of renal vein or adrenal gland invasion.  Pancreatic cystic lesions within the body and tail. Multiple intraspinal hypervascular lesions.

Brain

CT

A large enhancing right cerebellar lesion with obstructive hydrocephalus and cerebral edema.  Smaller left cerebellar enhancing lesions with associated cystic components. Calcified right orbital mass in keeping with treated hemangioblastoma. No endolymphatic sac tumor.

Angiogram brain

CT

Multiple hypervascular lesions within the left cerebellum and right cerebellum. The large lesion within the right cerebellum has multiple vessels coursing towards it. Lobulated enhancing extra-axial lesion at the foramen magnum. Multiple hypervascular lobulated lesions within the cervical spinal canal.

Brain

MRI

Confirms several vascular cerebellar masses with abnormal FLAIR hyperintense signal surrounding these masses and extending to the medulla. MRA demonstrates multiple arterial feeding vessels. Distorted right globe with heterogeneous signal.

spine

MRI

Several intra and extra-medulla enhancing masses are present within the cervical, thoracic and lumbar spinal regions.  Multiple flow voids within and surrounding the lesions associated with dilated para-vertebral vessels and mild scalloping of posterior vertebral bodies. The cord is expanded with numerous discrete medullary cysts. Multiple bilateral renal lesions.

The patient's DNA was extracted from peripheral blood, tested by PCR and cycle sequencing of all three exons and the flanking intronic regions of the VHL gene (ABI3500). Multiple ligase-dependent probe amplification( MLPA) for detection of exonic deletions/duplications within the VHL gene and sequences within the VHL proximal genes (FANCD2, BRK1/C3orf10/HSPC300, IRAK2 and GHRL) were carried out.

Findings: A heterozygous deletion of exon 3 in the VHL gene was detected.

Conclusion: DNA genetic analysis is diagnostic of Von Hippel Lindau syndrome and

Recommendations: Any or all offsprings are at 50% risk of inheriting this pathogenic VHL variant. Regular surveillance for early detection of VHL related tumors is strongly recommended for untested at-risk individuals including children.

Case Discussion

The imaging findings are classical of von Hippel Lindau syndrome with genetic analysis confirming the VHL exon 3 heterozygous deletion of the VHL tumor suppressor gene.

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