A 22-year-old man complained of a shadow in his right eye and was diagnosed with retinal detachment secondary to a retinal hemangioblastoma. His family history was noncontributory and physical examination normal except for a right epididymal cyst. Laboratory studies were unremarkable. Magnetic resonance imaging (MRI) of his brain revealed a hypervascular lesion in the medulla (large arrow; Figure A) and a smaller lesion at the medullary-spinal cord junction (small arrow; Figure A). A T2-weighted abdominal MRI demonstrated innumerable pancreatic cysts (Figure B) and multiple benign-appearing renal cysts. After surgical resection of the retinal hemangioblastoma, the patient remains asymptomatic. What is the diagnosis?
PatientID: None
KindredID: 1
Case: M, 22Y0M, Ethnicity Unknown
DiseaseAssertion: VHL
FamilyInfo: No notable family history.
CasePresentingHPOs: HP:0000541; HP:0010797; HP:0009711; HP:0030424; HP:0005562; HP:0001737 (Retinal detachment, Hemangioblastoma, Retinal capillary hemangioblastoma, Epididymal cyst, Multiple renal cysts, Pancreatic cysts)
CaseHPOFreeText: Complained of a shadow in his right eye and was diagnosed with retinal detachment secondary to a retinal hemangioblastoma. MRI of the brain revealed a hyper vascular lesion in the medulla and a smaller lesion at the medullary-spinal cord junction. Weighted abdominal MRI revealed innumerable pancreatic cysts and multiple benign-appearing renal cysts. After surgical resection of the retinal hemangioblastoma, the patient remains asymptomatic.
CaseNotHPOs: N/A
CaseNotHPOFreeText: N/A
CasePreviousTesting: N/A
PreviouslyPublished: N/A
SupplementalData: N/A
Variant: p.K159* (c.474_475insT)
LegacyVariant: N/A
CaseProblemVariantFreeText: N/A
ClinVarID: N/A
CAID: CA432423112, https://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/allele?hgvsOrDescriptor=NM_000551.3%3Ac.474_475insT
gnomAD: N/A
VariantEvidence: Reported as: NT474INST. Authors state that this is believed to be a novel sporadic mutation.
MutationType: insertion; plus_1_frameshift_variant; stop_gained
CivicName: K159* (c.474_475insT)
MultipleGeneVariants: N/A