PMC5989481_01
The family pedigree of the patient. (A) The patient's father is a 65-year-old VHL patient. (B) The patient's mother is a 64-year-old non-VHL woman with malignant lymphoma and colon cancer. (C) The patient's brother is a 39-year-old VHL patient. (D) The current VHL patient is a 36-year-old woman with an optic nerve hemangioblastoma.
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This family pedigree is shown in Figure 1.
Magnetic resonance imaging of the patient. (A and B) Gadolinium (Gd)-enhanced T1-weighted image of cerebellum when the patient was 26 years old. The patient had multiple cerebellar hemangioblastomas. (C) Gd-enhanced T1-weighted image of the lower thoracic cord. A small hemangioblatoma with a syrinx is shown. (D) T2-weighted image of the lower thoracic cord. (E) T1-weighted image of the abdomen. A renal cyst and multiple pancreatic cysts are shown.
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She also had a spinal cord hemangioblastoma at 11th thoracic vertebra level, a renal cyst and multiple pancreatic cysts (Figure 2).
Optic fundi before radiosurgery. (A) Left healthy side. (B) Right lesion side.
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The examination of her left ocular fundus showed a pale papilla (Figure 3).
Magnetic resonance images before radiosurgery. (A) Gadolinium (Gd)-enhanced T1-weighted image, sagittal. (B) Gd-enhanced T1-weighted image, axial. (C) Gd-enhanced T1-weighted image, coronal. Yellow arrows show the tumor. (D) Three-dimensional planning MRI for radiosurgery. The light blue color indicates the tumor enveloping the optic nerve.
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Gadolinium-enhanced magnetic resonance images at 18 months after the stereotactic radiosurgery. (A) Sagittal image. (B) Axial image. (C) Coronal image.
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Eighteen months after the radiosurgery, the tumor volume slightly decreased (Figure 5), but her vision has been still lost.