Magnetic resonance imaging of the head of a young patient shows an angiomatous lesion involving the cerebellum. There is also a cystic mass in the right kidney on abdominal ultrasound. The differential diagnosis must include which of the following?

Question

Magnetic resonance imaging of the head of a young patient shows an angiomatous lesion involving the cerebellum.  There is also a cystic mass in the right kidney on abdominal ultrasound.  The differential diagnosis must include which of the following?

Quizplus · Accepted Answer

11ec160b_39e9_60b8_9249_b5098131b704_MD0001_00 Von Hippel-Lindau disease is a rare, autosomal dominant condition characterized by the presence of capillary hemangioblastomas in the retina and/or cerebellum, as well as congenital cysts and/or neoplasms in the kidney, liver, and pancreas. Patients are also at increased risk for renal cell carcinoma, which can be bilateral. (Choice A) Neurofibromatosis type 1 (von Recklinghausen's disease), is an autosomal dominant disorder characterized by neurofibromas, optic nerve gliomas, Lisch nodules (pigmented nodules of the iris), and café au lait spots (hyperpigmented cutaneous macules). (Choice B) Neurofibromatosis type 2 is an autosomal dominant nervous system tumor syndrome, in which patients commonly develop bilateral cranial nerve VIII schwannomas and multiple meningiomas. (Choice C) Sturge-Weber syndrome (encephalotrigeminal angiomatosis) is a rare congenital neurocutaneous disorder characterized by the presence of a cutaneous facial angioma (port wine stain) as well as leptomeningeal vascular malformations. This condition is associated with intellectual disability, seizures, hemiplegia, and "tram-track" calcifications on skull radiographs. (Choice E) Although tuberous sclerosis may cause kidney, liver, and pancreatic cysts, central nervous system involvement manifests not as angiomatous lesions, but as cortical and subependymal hamartomas. Renal angiomyolipomas and cardiac rhabdomyomas are also characteristic. Clinically, seizures are a major complication. (Choice F) Hereditary hemorrhagic telangiectasia (Osler-Weber-Rendu syndrome) is an autosomal dominant condition presenting with congenital telangiectasias. Rupture of these telangiectasias may cause epistaxis, gastrointestinal bleeding, or hematuria. Cysts are not characteristic. Educational objective: A cerebellar hemangioblastoma in association with congenital cysts of the kidneys, liver, and/or pancreas is highly suggestive of von Hippel-Lindau disease, a rare autosomal dominant condition.

Magnetic Resonance Imaging of the Head of a Young Patient