Optic disc drusen: an exceptional manifestation of pseudohypoparathyroidism

Arous Mohamed Khairi; Kacem Akid Faten Haj; Sofien Affes; Kouloud Boujelben; Salah Dhoha Ben; Nadia Charfi; Mouna Mnif; Mohamed Abid; Mouna Elleuch; Amira Trigui; Majdoub Nabila Rekik

doi:10.1530/endoabs.110.EP1015

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Endocrine Abstracts (2025) 110 EP1015 | DOI: 10.1530/endoabs.110.EP1015

ECEESPE2025 ePoster Presentations Multisystem Endocrine Disorders (51 abstracts)

Optic disc drusen: an exceptional manifestation of pseudohypoparathyroidism

Mohamed Khairi Arous ¹ , Faten Haj Kacem Akid ¹ , Sofien Affes ² , Kouloud Boujelben ¹ , Dhoha Ben Salah ¹ , Nadia Charfi ¹ , Mouna Mnif ¹ , Mohamed Abid ¹ , Mouna Elleuch ¹ , Amira Trigui ² & Nabila Rekik Majdoub ¹

Author affiliations

¹Hedi Chaker University Hospital, Department of Endocrinology, Sfax, Tunisia; ²Habib Bourguiba University Hospital, Department of Ophtalmology, Sfax, Tunisia

JOINT543

Introduction: Optic disc drusen (ODD) are acellular calcified deposits located in the optic nerve head. Although they are generally asymptomatic and rare (prevalence of 0.3% to 2.4%), they can be associated with chronic hypocalcemia. We report a rare case of pseudohypoparathyroidism associated with bilateral ODD.

Case Report: A 16-year-old adolescent was hospitalized for severe hypocalcemia (1.17 mmol/l)revealed by a generalized tonic-clonic seizure, associated with hyperphosphatemia (2.49 mmol/L). The medical history revealed asthenia, anorexia, and chronic paresthesia evolving over 2 years, as well as an acute episode of muscle contractures with respiratory distress. The patient exhibited normal growth, psychomotor development, and pubertal progression. The diagnosis of pseudohypoparathyroidism was established based on the association of chronic hypocalcemia, hyperphosphatemia, and an elevated PTH level (446 pg/ml). Type IB was considered the most plausible form due to the absence of dysmorphic features or other endocrine abnormalities. Ophthalmological examination revealed bilateral pseudo-papilledema, confirmed as ODD by OCT, with no associated cataracts. Brain imaging showed calcifications of the basal ganglia consistent with Fahr syndrome, strengthening the link between hypocalcemia and calcified deposits. Management included parenteral and oral calcium supplementation combined with active vitamin D. Clinical and biochemical improvements were observed under treatment.

Discussion and conclusion: ODD in the context of pseudohypoparathyroidism represent an exceptional manifestation, likely facilitated by chronic hypocalcemia. The classical ocular manifestation of chronic hypocalcemia is peripheral cataracts. An association between cataracts and optic nerve drusen has been reported in a patient with Di George syndrome. The underlying pathophysiological mechanism remains unclear but is hypothesized to involve dysregulated calcium metabolism, as observed in other hypocalcemic syndromes. This case highlights the importance of systematic ophthalmological evaluation in patients with severe chronic hypocalcemia. Although no treatment exists for ODD, periodic monitoring is crucial to prevent long-term complications.