In this case report, the authors describe an unusual case of initial collapse, seizures, and hypertensive crisis in a child who later was found to have multiple extraadrenal pheochromocytomas. Molecular diagnostics revealed a novel point mutation in the VHL gene (VHL nt. 406 T-->G). Only 7 months after the first lesions had been removed, a new paraganglioma developed in the contralateral periadrenal region.
PatientID: 1 (case)
KindredID: 1
Case: M, 10Y4M, Ethnicity Unknown
DiseaseAssertion: VHL
FamilyInfo: No specific presentations were given for family history, however it was stated that the mutation was not found in the mother, yet the father’s DNA was not available for testing. The patient has 10 siblings, but all from a different father, none of which presented with a tumor or other severe disease known, and none was willing to be analyzed for the given mutation. It therefore cannot definitely differentiate between an inherited or a de novo mutation in this patient.
CasePresentingHPOs: HP:0003712; HP:0006737; HP:0010302; HP:0002668 (Skeletal muscle hypertrophy, extraadrenal pheochromocytoma, spinal cord tumor, paraganglioma)
CaseHPOFreeText: admitted to the hospital at 9Y with generalized seizures and marked hypertension; echocardiography showed muscular hypertrophy of the left ventricle; radiograph of the thorax revealed a round paramediastinal mass at the left side at the level of the fourth thoracic vertebra; MRI confirmed a thoracic structure (2 × 2 × 3 cm) and a tumor in the abdomen (2 × 3 × 5 cm) in the right suprarenal region; two separate tumors apart from the adrenal gland and the thoracic tumor were removed and found to be consistent with pigmented paragangliomas showing positivity for neuron-specific enolase, chromogranin A, and synaptophysin. 7 months after surgery he returned with tachycardia, vomiting, and hypertension and was found to have a new tumor in the 2 × 2 × 2 cm in the left periadrenal region; surgery found these to be three tumors in the proximity of the adrenal gland. 16 months after his first admission, the patient is in good health.
CaseNotHPOs: HP:0010797; HP:0009711 (hemangioblastoma, retinal capillary hemangioma)
CaseNotHPOFreeText: Physical examination revealed no other internal and no focal neurologic abnormalities. No café-au-lait-spots were present. No angiomatosis of the retina was present
CasePreviousTesting: MEN2
PreviouslyPublished: N/A
SupplementalData: N/A
Variant: p.S65A (c.193T>G)
LegacyVariant: p.S65A (c.406T>G)
CaseProblemVariantFreeText: N/A
ClinVarID: 223160 https://www.ncbi.nlm.nih.gov/clinvar/variation/223160/
CAID: N/A
gnomAD: N/A
VariantEvidence: N/A
MutationType: missense_variant;transversion
CivicName: S65A (c.193T>G)
MultipleGeneVariants: N/A