PatientID: Proband
KindredID: 1
Case: M, 10Y0M, Ethnicity Unknown
DiseaseAssertion: VHL
FamilyInfo: Mother was found with the same VHL germline variant. His mother presented with bilateral pheochromocytoma.
CasePresentingHPOs: HP:0002315; HP:0000651; HP:0002666; HP:0009711; HP:0000822 (Headache, Diplopia, Pheochromocytoma, Retinal capillary hemangioma, Hypertension)
CaseHPOFreeText: Admitted with complaints of headache and diplopia. MRI indicated the presence of multiple lesions in perivascular areas neighboring both adrenal glands. An iodine 123 metaiodobenzylguanidine (MIBG) scan revealed multiple focal areas of increased uptake near the adrenal glands. The diagnosis of bilateral pheochromocytoma was confirmed histologically and immunohistochemically. The patient remained asymptomatic with no laboratory or radiologic abnormalities for six years of follow-up. At the age of 16, the patient was referred to our clinic with a visual defect in the left eye. Ophthalmologic examination led to the diagnosis of bilateral retinal hemangiomas, and he underwent laser photocoagulation.
CaseNotHPOs: HP:0009713; HP:0006880 (Spinal hemangioblastoma, Cerebellar hemangioblastoma)
CaseNotHPOFreeText: Cerebral, spinal MRI and abdominal computed tomography (CT) were normal.
CasePreviousTesting: N/A
PreviouslyPublished: N/A
SupplementalData: N/A
Variant: p.R161Q (c.482G>A)
LegacyVariant: c.695G>A
CaseProblemVariantFreeText: N/A
ClinVarID: 182983, https://www.ncbi.nlm.nih.gov/clinvar/variation/182983/
CAID: N/A
gnomAD: N/A
VariantEvidence: Variant was reported as “c.695G>A” which was mapped to p.Arg161Gln (c.482G>A) in accordance with reference sequence NM_000551.3.
MutationType: missense_variant;transition
CivicName: R161Q (c.482G>A)
MultipleGeneVariants: N/A