An 11-year-old female was admitted with complaints of episodes of headache, sweating, palpitation along with history of vomiting, and blurring vision; and examination revealed tachycardia, hypertension (230/130 mmHg). Subsequent evaluation revealed elevated NMN (2959 μg/ml). CECT revealed a right adrenal mass 3 × 3 cm and hence she was provisionally diagnosed as a case of right PCC with probability of MEN 2A or VHL in view of young age. However, there was no family history and no evidence of medullary thyroid cancer or HPT in her or her siblings. She underwent laparoscopic right adrenalectomy after adequate alpha blockade. HPE confirmed PCC without hyperplasia of normal adrenal tissue. She was subsequently followed up. She then presented 6 years later with history of paroxysms and one episode of hypertension. On examination her blood pressure was found to be 180/110 on standing and 150/110 on lying down. Her UNMN was 6,620 μg/ml at 24 h (0–600). PET CT revealed a 5.8 × 5.5 cm left adrenal PCC. She was then put on alpha blockade and underwent a left laparoscopic adrenalectomy under steroid cover. Postop period was uneventful and HPE revealed PCC without adrenal hyperplasia. Her postoperative UMN returned to normal levels. She was discharged on and is doing well in follow-up. It was also found that her cousin had undergone bilateral adrenalectomy with us (case 2) during her period of follow-up and he was found to be having a positive VHL gene mutation; hence she was also tested for VHL mutation and was found to be harboring VHL gene mutation also. ({"type":"entrez-nucleotide","attrs":{"text":"NM_000551.3","term_id":"319655736","term_text":"NM_000551.3"}}NM_000551.3 [VHL]:c.382C>Tin exon 2. Protein change: leucine to phenylalanine).
PatientID: 1
KindredID: 1
Case: F, 11Y0M, Ethnicity Unknown
DiseaseAssertion: VHL
FamilyInfo: Her cousin (case 2) underwent a bilateral adrenalectomy and had the same VHL mutation.
CasePresentingHPOs: HP:0006748, HP:0002865 (Adrenal pheochromocytoma, Medullary thyroid carcinoma)
CaseHPOFreeText: N/A
CaseNotHPOs: HP:0005584, HP:0010797 (renal cell carcinoma, hemangioblastoma)
CaseNotHPOFreeText: N/A
CasePreviousTesting: N/A
PreviouslyPublished: N/A
SupplementalData: N/A
Variant: p.L128F (c.382C>T)
LegacyVariant: N/A
CaseProblemVariantFreeText: N/A
ClinVarID: 496060 https://www.ncbi.nlm.nih.gov/clinvar/variation/496060/
CAID: N/A
gnomAD: N/A
VariantEvidence: N/A
MutationType: missense_variant;transition
CivicName: L128F (c.382C>T)
MultipleGeneVariants: N/A