[Von Hippel-Lindau syndrome with spinal, cerebellar, and retinal hemangioblastoma in identical twins].
We report about a case of a 22-year-old women who was admitted because of sudden and painless proximal paraparesis, sensory loss at distal L 1, and bladder dysfunction. In MRI, cystic lesions in the spinal cord were identified at C 1,C 6,T 1,T 6,and T 11 as well as in the cerebellum.A tentative diagnosis of spinal hemangioblastomas was confirmed by spinal angiography and postoperative histology of the symptomatic tumor at T11.Furthermore, retinal hemangioblastomas were detected by fluorescence angiography and treated with laser surgery. Based on the clinical findings,we assumed the diagnosis of von Hippel-Lindau syndrome (vHL).Postoperatively, the paraparesis and sensory deficit improved, but the bladder dysfunction persisted. The patient's identical twin was screened for hemangioblastomas, too, and spinal, retinal, and one cerebellar tumor with a nearly identical location pattern were found. There was no evidence for pancreatic, adrenal, or renal involvement in both twins. The twins were investigated for inactivating mechanisms of the vHL germline mutations using single-strand conformational polymorphism (SSCP) and Southern blotting, but none of the known germline mutations were identified. Because the family history is devoid of vHL disease, spontaneous mutation might be causal for the syndrome in our patients.
Wessels
T
T
Klinik für Neurologie, Universitätsklinikum Aachen. tiemo.wessels@gmx.net
Kemeny
S
S
Block
F
F
D000328:Adult; D000792:Angiography; D002528:Cerebellar Neoplasms / Q000175:diagnosis / Q000235:genetics*; D002531:Cerebellum / Q000473:pathology; D004252:DNA Mutational Analysis; D004200:Diseases in Twins; D005260:Female; D005451:Fluorescein Angiography; D018325:Hemangioblastoma / Q000175:diagnosis / Q000235:genetics*; D006801:Humans; D008025:Ligases / Q000235:genetics; D008279:Magnetic Resonance Imaging; D018807:Polymorphism, Single-Stranded Conformational; D019572:Retinal Neoplasms / Q000175:diagnosis / Q000235:genetics*; D013116:Spinal Cord / Q000473:pathology; D013120:Spinal Cord Neoplasms / Q000175:diagnosis / Q000235:genetics*; D025521:Tumor Suppressor Proteins; D014430:Twins, Monozygotic; D044767:Ubiquitin-Protein Ligases; D051794:Von Hippel-Lindau Tumor Suppressor Protein; D006623:von Hippel-Lindau Disease / Q000175:diagnosis / Q000235:genetics*
D025521:Tumor Suppressor Proteins; D044767:Ubiquitin-Protein Ligases; D051794:Von Hippel-Lindau Tumor Suppressor Protein; D008025:Ligases; C497446:VHL protein, human