Endocrine Abstracts

JOINT1960

Introduction: Fahr’s syndrome is a rare anatomoclinical entity whose primary etiology is either primary or postoperative hypoparathyroidism. It is characterized by bilateral and symmetrical intracerebral calcifications, mainly located in the basal ganglia, and is most often associated with disturbances in phosphocalcium metabolism.

Case Report: We report the case of a 29-year-old female patient with a history of total thyroidectomy in 2015, who presented to the emergency department with tonic-clonic seizures. Laboratory tests revealed hypocalcemia at 1.27 mmol/l(normal range: 2.25–2.60). Renal and hepatic function tests were normal, and the electrocardiogram showed no abnormalities. Brain CT imaging revealed bilateral and symmetrical intracerebral calcifications in the basal ganglia, supporting the diagnosis of Fahr’s syndrome. Further investigations showed hyperphosphatemia at 2.38 mmol/l(normal range: 0.8–1.45) and a markedly reduced parathyroid hormone (PTH) level of less than 4 pg/ml (normal range: 12–72). Magnesium levels were also low. The diagnosis of Fahr’s syndrome was established, and the patient was started on replacement therapy with calcium, vitamin D, and magnesium, along with an anticonvulsant. After three months, clinical and biochemical improvement was observed.

Discussion: Fahr’s syndrome is classically defined by the triad of symmetrical basal ganglia calcifications, neuropsychiatric symptoms, and parathyroid gland dysfunction. The pathophysiological mechanisms underlying intracerebral calcifications in Fahr’s syndrome remain poorly understood. Most authors suggest a metabolic disorder of oligoglial cells, leading to mucopolysaccharide deposits and secondary vascular, perivascular, and calcified lesions. These calcifications predominantly affect the small blood vessels of the basal ganglia. Clinically, they often manifest as neuropsychiatric disturbances. Fahr’s syndrome generally has a favorable prognosis, and correcting phosphocalcium metabolism disorders frequently leads to significant improvement.

Conclusion: In cases of phosphocalcium metabolism disturbances, particularly in the presence of associated endocrine disorders, intracerebral calcifications should be systematically investigated. Treatment is based on correcting phosphocalcium metabolism abnormalities.