A 23-year-old woman presented with a 3-month history of severe neck pain, acroanesthesia, and blurred vision, as well as a 1-month history of frequent headaches associated with vomiting. Brain and cervical MRI with contrast revealed 4 enhancing lesions in the cerebellum and cervical spinal cord (Fig. 1A–C). No detectable tumors were found in other organs on CT or MRI of the viscera.Open in a separate windowFig. 1Contrast-enhanced T1-weighted MR images (A–C) of the brain revealing enhancing lesions in the cerebellum and ventral spinal cord at C-2. Photomicrograph (D) demonstrating characteristic HB phenotype with lipid-laden stromal cells (arrows) distributed within a dense capillary network. H & E, original magnification ×20.Operation and Postoperative CourseSymptomatic cerebellar and C-2 tumors were resected. Pathological diagnosis confirmed both lesions as HB. Hematoxylin and eosin staining of tumor revealed characteristic HB phenotype, including a mixture of diffuse small spindle cells and clear cytoplasmic lipid-laden stromal cells within an extensive capillary network (Fig. 1D). The patient’s clinical signs and symptoms had resolved by the 7-month follow-up.
PatientID: 1
KindredID: 1
Case: F, 23Y0M, Ethnicity Unknown
DiseaseAssertion: VHL
FamilyInfo: No family history of VHL disease. Brother, parents and son tested negative for the VHL variant found in the proband and had no clinical manifestations of the disease.
CasePresentingHPOs: HP:0006880; HP:0009713; HP:0033748; HP:0000622; HP:0002315; HP:0002013 (Cerebellar hemangioblastoma, Spinal hemangioblastoma, Hypoesthesia, Blurred vision, Headache, Vomiting)
CaseHPOFreeText: Presented with a 3-month history of severe neck pain, acroanesthesia, and blurred vision, as well as a 1-month history of frequent headaches associated with vomiting. Brain and cervical MRI with contrast revealed 4 enhancing lesions in the cerebellum and cervical spinal cord. No detectable tumors were found in other organs on CT or MRI of the viscera. Symptomatic cerebellar and C-2 tumors were resected. Pathological diagnosis confirmed both lesions as HB. The patient’s clinical signs and symptoms had resolved by the 7-month follow-up.
CaseNotHPOs: N/A
CaseNotHPOFreeText: No detectable tumors were found in other organs on CT or MRI of the viscera.
CasePreviousTesting: N/A
PreviouslyPublished: N/A
SupplementalData: N/A
Variant: p.S80I (c.239G>T)
LegacyVariant: N/A
CaseProblemVariantFreeText: N/A
ClinVarID: 625229, https://www.ncbi.nlm.nih.gov/clinvar/variation/625229/
CAID: N/A
gnomAD: N/A
VariantEvidence: Heterozygous mutation.
MutationType: missense_variant;transversion
CivicName: S80I (c.239G>T)
MultipleGeneVariants: N/A