A 26-year-old male with history of hemicranial intermittent severe headache with vomiting, sweating, and palpitations since 6 years. Patient also had intermittent abdominal pain with no focal neurological deficits or seizures. He consulted a neurosurgeon for these complaints and MRI brain was done that showed cerebellar hemangioblastoma. Patient underwent surgery for same. Patient was lost to follow up after the surgery and then after 4 years consulted our institute for persistence of similar complaints. Patient was evaluated keeping syndromic association in mind because of strong family history of cerebellar hemangioblastoma.On examination patient was found to be hypertensive with postural fall. On hormonal evaluation he was found to have high levels of 24 h urinary normetanephrines. CECT abdomen [Figure 2a] showed enlarged right adrenal gland heterogeneous (red), pancreatic head solid mass situated posteriorly (blue), and cyst in pancreatic tail (green). In order to rule out other NET and tumor in contralateral adrenal functional imaging was done. FDG PET scan showed avid uptake in right adrenal and pancreatic head. Hence, a clinical diagnosis of Vhl was made. With adequate alpha blockade patient was planned for right adrenalectomy and pancreatic surgery. Open transperitoneal anterior adrenalectomy with IOUSG and bidigital palpation of pancreas—tumor located posteriorly, close to main pancreatic duct as enucleation not possible hence decision was taken for pancreaticoduodenectomy [Figure 2b]. Postoperative course was uneventful. Postoperative urinary normetanephrines were normal on 10th day. Histopathology showed right adrenal PCC and pancreatic NET with uncertain malignant potential. Mutation analysis revealed positive mutation in exon 3 of VHL gene at 167th position of amino acid Arg (arginine) is replaced by Gln (glutamine) happens due to CGG-CAG a single nucleotide change.
PatientID: 4
KindredID: 4
Case: M, 30Y0M, Ethnicity Unknown
DiseaseAssertion: VHL
FamilyInfo: Strong family history of cerebellar hemangioblastoma.
CasePresentingHPOs: HP:0006880, HP:0030405, HP:0002666, HP:0001737 (cerebellar hemangioblastoma, pancreatic endocrine tumour, pheochromocytoma, pancreatic cysts)
CaseHPOFreeText: At age 26 was diagnosed with cerebellar hemangioblastoma. Four years later, he was found to have pancreatic endocrine tumour, pheochromocytoma, and pancreatic cysts.
CaseNotHPOs: HP:0005584 (Renal cell carcinoma)
CaseNotHPOFreeText: N/A
CasePreviousTesting: N/A
PreviouslyPublished: N/A
SupplementalData: N/A
Variant: p.R167Q (c.500G>A)
LegacyVariant: N/A
CaseProblemVariantFreeText: N/A
ClinVarID: 2216 https://www.ncbi.nlm.nih.gov/clinvar/variation/2216/
CAID: N/A
gnomAD: 0.000003977 https://gnomad.broadinstitute.org/variant/3-10191507-G-A
VariantEvidence: N/A
MutationType: missense_variant;transition
CivicName: R167Q (c.500G>A)
MultipleGeneVariants: N/A