CNS hemangioblastomas in von Hippel-Lindau disease
The present case has been published in the journal Neurology. A 14-year-old boy developed progressive bilateral leg weakness for 5 months. Physical examinations showed calf muscle atrophy (figure, A) and hyperreflexia. Spinal lesion of slow progression was suspected.

Spine and brain MRI revealed hemangioblastomas at spinal cord and cerebellum, syringobulbia, and thoracic syringomyelia (figure, B–D and F). Abdominal MRI revealed multiple pancreatic cysts (figure, E). The patient also had retinal hemangioblastomas. Genetic analysis showed heterozygous de novo exon 3 deletion of VHL gene.

Weakness occurs in 65% of von Hippel-Lindau disease cases. This patient had truncating mutation, correlating to a higher rate of hemangioblastoma, but a lower risk for pheochromocytoma.

Source: https://pxmd.co/tpXnN
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