The proband (Patient III‐1) was admitted into our ward in October 2015 with a complaint of an occipital headache for 1 month. He was conscious, and a physical examination did not reveal ataxia. Tests for cranial nerve function, limb sensation and motor function were unremarkable. Contrast‐enhanced brain magnetic resonance imaging (MRI) revealed a solid‐cystic mass in the vermis cerebelli and left cerebellar hemisphere (Figure (Figure2a),2a), indicating a radiological diagnosis of CH. Cerebellar tumor resection was performed through a sub‐occipital craniotomy under general anesthesia, and the tumor was completely removed. The tumor, which was 30 mm in diameter, was pink and soft and composed of dilated veins and dense blood capillaries. A postoperative pathological analysis of the tumor indicated a hemangioblastoma. The patient completed outpatient follow‐up in October 2018. The occipital headache had disappeared, brain MRI showed no recurrence, and abdominal computerized tomography (CT) revealed no neoplasms.
PatientID: III-3
KindredID: 1
Case: M, 25Y0M, Ethnicity Unknown
DiseaseAssertion: VHL
FamilyInfo: Both of the patient’s uncles (Patient II-1 and II-4) were clinically diagnosed with VHL disease, and carried the mutation NM_000551.3:c.269A>T. Patient II-1 presented with RCCC at age 33 and cerebral hemangioblastoma at age 41. Patient II-4 presented with RCCC at age 53. The patient’s deceased father (Patient II‐3) and deceased aunt (Patient II‐5) were also clinically diagnosed with VHL disease, but the mutation was undetermined before death. His father died of advanced RCCC, and his aunt (Patient II‐5) died of a ruptured CH. The patient’s grandparents (Patient I-1 and I-2) were also deceased from other causes. The patient’s son (Patient IV‐1), wife (Patient III‐2), and mother (Patient II‐2) were healthy and did not carry the mutation. Their annual physical examination did not reveal a hemangioblastoma, kidney mass or abdominal cyst.
CasePresentingHPOs: HP:0006880 (Cerebellar hemangioblastoma)
CaseHPOFreeText: The 25Y male patient presented with occipital headache at 21Y. Upon initial examination, the patient was diagnosed with cerebellar hemangioblastoma and the tumour was resected. The patient completed outpatient follow‐up three years later. The occipital headache had disappeared, brain MRI showed no recurrence, and abdominal CT revealed no neoplasms.
CaseNotHPOs: N/A
CaseNotHPOFreeText: N/A
CasePreviousTesting: N/A
PreviouslyPublished: N/A
SupplementalData: N/A
Variant: p.N90I (c.269A>T)
LegacyVariant: N/A
ClinVarID: 223172, https://www.ncbi.nlm.nih.gov/clinvar/variation/223172/
gnomAD: N/A
VariantEvidence: N/A
MutationType: missense_variant;transversion
CivicName: N90I(c.269A>T)
MultipleGeneVariants: N/A