Hereditary Pheochromocytoma as a Major Manifestation of von Hippel Lindau Disease (vHL) in Childhood: Long-term Follow-up of Five Patients with vHL from One Family.

VHL p.S80G missense variant (exon 1) associated with VHL type 2 — pheochromocytoma as main and early manifestation in a family with 5 affected pediatric members

This series reports five pediatric patients from a single family with confirmed von Hippel-Lindau disease (VHL p.S80G variant, exon 1) in whom pheochromocytoma was the main manifestation, diagnosed during pediatric care. The p.S80G variant is known for its preferential association with PHEO in VHL disease (type 2). Early biochemical and imaging surveillance from genetic diagnosis enabled elective surgery under safe conditions in all patients.

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This family illustrates that pediatric pheochromocytoma is a real manifestation of VHL type 2, warranting early screening from genetic diagnosis in children. The p.S80G variant should trigger enhanced PHEO surveillance from childhood in expert centers. The elective preventive surgery approach is a strong argument for presymptomatic diagnosis through cascade genetic testing in VHL families.

Clinical impact: 2/3 · Evidence strength: 1/3 · Novelty: 2/2 · Sample size: 0/1 · Journal quality: 0/1 → Total: 5/10