Endocrine Abstracts

Introduction: Idiopathic calcification of basal ganglia (Fahr’s syndrome) is a rare pathology, mostly incidental finding or familial origin, characterized by cognitive, behavioural and motor impairment, as well as by metabolic changes, such as primary hypoparathyroidism.

Report: We report a case of a 59-years old white lady who was referred to our clinic for an evaluation due to suspected Fahr’s syndrome. She had a 20 years long history of moderate radicular low back pain, progressive numbness in hands and feet during last 7 years. Two months before presentation the patient was hospitalized in emergency room (ER) due to a first-time generalized seizure followed by unconsciousness. Biochemical tests had shown normal serum glucose, creatinine, potassium, elevated liver enzymes and creatine kinase. Brain CT scan had demonstrated changes consistent with Fahr’s syndrome – diffuse symmetrical parenchymal calcifications, including basal ganglia, subcortical regions of cerebral white matter and cerebellum. After discharge patient was seen by neurologist, but only treatment for vertigo has been prescribed. Multiple blood testing was repeated, but no calcium (Ca) or parathormone (PTH) was checked, fatigue progressed.

Two months after initial episode patient had a sudden fall with unconsciousness and was hospitalized, more detailed investigation was done, showing severe hypocalcaemia, hyperphosphataemia, undetectable PTH level and hypocalciuria. No cognitive or significant motor changes were observed. Chvostek’s and Trousseau’s signs were negative. In her past history bilateral cataract was diagnosed and operated 7 years ago. Secondary reasons of Fahr’s syndrome were excluded. Family history showed no possible hereditary disease.

Based on these findings, diagnosis of Fahr’s syndrome and primary hypoparathyroidism was done. Treatment was started with intravenous Ca and followed with oral calcitriol and Ca supplementation, showing gradual improvement in biochemical tests. In spite of a regular treatment, three years later the patient still has low serum Ca and PTH, high phosphates, but urinary electrolytes are normal, hand and feet numbness has disappeared and she has not experienced any seizures.

Conclusion: We would like to stress the importance of mandatory testing of Ca, phosphates and PTH in all patients with seizures or unexplained episodes of unconsciousness.

Declaration of interest: The authors declare that there is no conflict of interest that could be perceived as prejudicing the impartiality of the research project.

Funding: This research did not receive any specific grant from any funding agency in the public, commercial or not-for-profit sector.