The propositus underwent bilateral adrenalectomy for bilateral pheochromocytoma at age 23 years. Thereafter she remained well until age 54 years when a small vascular lesion, possibly a spinal hemangioblastoma, was identified by a screening MRI. No other central nervous system abnormalities were detected and her ophthalmologic examination was normal. An abdominal ultrasound scan demonstrated a 2.8-cm cyst in the left kidney. A year later she complained of right leg weakness, and slight weakness was confirmed by physical examination. A repeat MRI scan of the spine demonstrated a tiny, avidly enhancing nodule on the dorsal surface of the spinal cord at C3 with a diffuse area of high signal within the cord at that level, similar in appearance to one year prior
PatientID: None
KindredID: Family C
Case: M, 54Y0M, Ethnicity Unknown
DiseaseAssertion: Assumed VHL
FamilyInfo: There was no family history of VHL disease or familial pheochromocytoma. Her parents (mother age 85, father age 79) were asymptomatic and were not available for DNA testing. A 58-year-old maternal half-brother was tested and did not carry the mutation.
CasePresentingHPOs: HP:0006748, HP:0000107, HP:0009713 (adrenal pheochromocytoma, renal cyst, spinal hemangioblastoma)
CaseHPOFreeText: The patient had bilateral pheochromocytoma. A small vascular lesion was identified by a screening MRI, which that authors of the papers assumed could possibly a spinal hemangioblastoma,
CaseNotHPOs: None
CaseNotHPOFreeText: No other central nervous system abnormalities were detected and her ophthalmologic examination was normal.
CasePreviousTesting: N/A
PreviouslyPublished: N/A
SupplementalData: N/A
Variant: p.V84L (c.250G>T)
LegacyVariant: p.V84L (c.463G>T)
ClinVar: 2236 https://www.ncbi.nlm.nih.gov/clinvar/variation/2236/
CAID: CA020170 http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/allele?hgvsOrDescriptor=NM_000551.3%3Ac.250G%3ET
gnomAD: N/A
VariantEvidence: N/A
MutationType: missense_variant;transition
CivicName: V84L (c.250G>T)
MultipleGeneVariants: N/A