Early clinical diagnosis of ROHHAD-NET syndrome remains challenging due to nonspecific and progressively emerging symptoms such as rapid-onset obesity and autonomic dysfunction.
Serum prolactin was consistently elevated at initial presentation across all patients studied, suggesting a potential early biomarker.
The presence and titers of anti-ZSCAN1 antibodies strongly correlate with the presence of neural crest tumors, underscoring an autoimmune link to disease pathogenesis.
Anti-ZSCAN1 antibody titers decrease following tumor resection or immunosuppressive therapy, indicating their potential utility in monitoring treatment response.
