A case report reveals a 3Y girl with right adrenal malignant pheochromocytoma, with the mother diagnosed with von Hippel-Lindau syndrome. The mother was 38Y when diagnosed with bilateral pheochromocytoma that was resected when she was 18Y. She presented several relapses, the most recent one at 32Y when she was also diagnosed with cerebral angioma. Genetic tests revealed the presence of the VHL c 244 C>G (p. Arg 82 Gly) heterozygote mutation in the mother, as well as in the child. Genetic tests for mutations in RET, SDHB, SDHC and SDHD in the mother were negative. After 6 months from the complete resection of the tumor, the daughter is without any clinical symptoms, with normal blood pressure, normal ophthalmoscopy, no tumor markers and no evidence of tumor on cerebral or abdominal MRI.

PatientID: None

KindredID: 1

Case: F, 38Y0M, Ethnicity Unknown

DiseaseAssertion: VHL

FamilyInfo:

CasePresentingHPOs: HP:0002666; HP:0001028 (Pheochromocytoma, Hemangioma)

CaseHPOFreeText: Was diagnosed with bilateral pheochromocytoma resected when she was the age of 18 years. She presented several relapses, the most recent one at the age of 32, when she was also diagnosed with cerebral angioma.

CaseNotHPOs: N/A

CaseNotHPOFreeText: N/A

CasePreviousTesting: RET, SDHB, SDHC, SDHD

PreviouslyPublished: N/A

SupplementalData: N/A

Variant: p.R82G (c.244C>G)

LegacyVariant: N/A

CaseProblemVariantFreeText: N/A

ClinVarID: 1297059, https://www.ncbi.nlm.nih.gov/clinvar/variation/1297059/

CAID: N/A

gnomAD: N/A

VariantEvidence: N/A

MutationType: missense_variant;transversion

CivicName: R82G (c.244C>G)

MultipleGeneVariants: N/A