Von Hippel-Lindau disease

Case contributed by Huda B. Gharbia
Diagnosis almost certain

Presentation

Headache, loss of vision in left eye, neck pain, previous operated cerebellar hamangioblastoma, with V-P shunt in right lateral ventricle.

Patient Data

Age: 30 years
Gender: Female
mri

Postoperative sequel of encephalomalacia and gliosis in paramidline of cerebellar hemispheres.

Multiple cystic lesions in posterior fossa in both cerebellar hemispheres, display hypointense in T1W and hyperintense signal in T2W images, hypointense in FLAIR sequences, and show small mural enhanced nodule in T1W post-contrast.

Also, there is a small enhanced lesion in left eye globe, with triangular-shaped hypointensity area in T2Wi extend from retrolental area to optic disc region, denoting retinal detachment.

mri

MRI spine reveals intramedullary large cystic lesion, with enhanced small mural nodule in T1W post-contrast, extend from cervicomedullary junction downward to C7 level, surrounded by hyperintensity T2W signal, syringomyelia.

Case Discussion

History of pathologically proven operated cerebellar hemangioblastoma.

MRI brain reveals multiple cystic lesions with small enhancing mural nodules in both cerebellar hemispheres, likely hemangioblastomas.

An enhancing lesion in left eye globe, likely retinal hemangioblastoma.

Cystic lesion with an enhanced nodule in the cervical part of the spinal cord, likely spinal hemangioblastoma.

These combinations are keeping with von Hippel-Lindau syndrome.

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