PO-23 | Hemicrania continua-like headache in familial SDHD-related paragangliomas: a diagnostic challenge

A. Di Chirico, L. Curto, G. Procopio, L. Troilo, G. Siciliano, F. Baldacci, S. Gori | Neurology Unit, Department of Clinical and Experimental Medicine, University of Pisa-AOUP, Pisa, Italy

Background: Pheochromocytomas (PHEO) and paragangliomas (PGL) are rare neuroendocrine tumors originating from adrenal or extra-adrenal chromaffin cells. Headache can be a presenting symptom in both secreting and non-secreting forms, with a higher prevalence noted in hereditary head and neck paragangliomas (HNPGL), particularly those linked to SDHD gene mutations. While typically non-functional, these tumors can be locally aggressive.

Case report: We describe a 51-year-old woman with familial paragangliomatosis type I due to an SDHD mutation, diagnosed in 2010 with bilateral non-secreting cervical paragangliomas. Treatment included somatostatin analogues and one session of radiotherapy. Beginning in 2018, she developed a strictly left-sided, constrictive, stabbing headache localized to cervical, temporal, and auricular regions, gradually extending to periorbital and occipital areas. The headache was associated with photophobia, phonophobia, and nausea. By late 2024, it had become a continuous daily headache with autonomic features including ptosis, eyelid edema, nasal congestion, rhinorrhea, and lacrimation. Pain became pulsatile and worsened with physical activity, leading to chronic NSAID use. There was no prior history of primary headache disorders. Neurological examination revealed left ptosis and miosis, reported after radiotherapy in 2023. Imaging showed a ~10% volume increase in lesions from 2017 to 2022, but lesion size remained stable post-2022. Post-radiotherapy MRI (2023) revealed oropharyngeal edema, which largely resolved by 2024. Headache was only partially responsive to amitriptyline and perphenazine; a diagnostic trial with indomethacin was inconclusive due to poor tolerance.

Discussion and Conclusion: Although clinical presentation met ICHD-3 criteria for Hemicrania Continua, the coexistence of local tumor mass and oculosympathetic dysfunction suggests a possible secondary headache, either tumor- or radiation-induced. Headache in paragangliomas is rarely described; Specific headache patterns associated with HNPGL have not been well characterized in the literature. Only one case of Paroxysmal Hemicrania resolving after tumor resection is reported, indicating a possible causal link. This case underscores the need to consider secondary causes such as paragangliomas in patients with trigeminal autonomic cephalalgia (TAC)-like headaches resistant to standard treatments. Despite their rarity, these tumors can lead to significant morbidity and should be included in the differential diagnosis when headache presents with autonomic symptoms and poor treatment response.