Endocrine Abstracts

Introduction: Hypoparathyroidism with abnormal calcium deposits in the basal ganglia is known as Fahr’s syndrome, a rare condition affecting fewer than 1 in 1,000,000 people, typically those aged 40-60. In contrast, Fahr’s disease is characterized by isolated brain calcification without underlying metabolic or endocrine disorders. Both conditions often manifest with neurological and cognitive disorders, seizures, and sometimes psychosis. However, symptoms of Fahr’s syndrome usually improve once calcium levels normalize.

Case presentation: We report the case of a 58-year-old male who presented to our emergency department with a generalized tonic-clonic seizure and a prolonged postictal state. Despite intravenous administration of benzodiazepines, there was no improvement. According to his relatives, the patient had a 12-year history of seizures, not well-controlled by anticonvulsive therapy. A head CT scan revealed bilateral symmetrical calcification of the basal ganglia, dentate nuclei, thalamus, corona radiata, and semi-oval calcification of white matter. Laboratory tests showed severe hypocalcemia, significantly low parathyroid hormone levels, mild hypomagnesemia, hypokalemia, and hyperphosphatemia. He had no history of thyroidectomy or parathyroidectomy. Initial creatinine and liver function tests were elevated but soon normalized. ECG was normal. Primary idiopathic hypoparathyroidism was considered and the diagnosis of Fahr’s syndrome was made. Considering the possibility of autoimmune polyglandular syndrome, glucose, cortisol, and thyroid-stimulating hormone were checked, and no abnormalities were observed. Immediate treatment included intravenous calcium gluconate, calcitriol, oral calcium, magnesium, and potassium supplements. The patient’s disorientation and abnormal movements disappeared as his calcium levels normalized. Over a three-month follow-up, his ongoing treatment for hypoparathyroidism kept his calcium level stable, he remained seizure-free even on minimal anticonvulsant dosing.

Conclusion: Unfortunately, the vague neurological symptoms and low awareness of the link between basal ganglia calcification and hypoparathyroidism often lead to misdiagnosis and ineffective treatment. Sharing knowledge about this condition could help diagnose Fahr’s syndrome timely and initiate optimal treatment.