Introduction: Fahrs syndrome and primary hypoparathyroidism are two rare diseases. Fahrs syndrome is characterized by abnormal calcified deposits in basal ganglia and cerebral cortex and by the classic association with hypoparathyroidism. We report two cases of Fahr syndrome revealing an unknown primary hypoparathyroidism.
Observation 1: A 36 year-old man, with a history of schizophrenia and generalized tonic-clonic seizures since two years. He was admitted for severe hypocalcemia, which is symptomatic of tetany attacks, cramps and paresthesia with electrical abnormalities on the electrocardiogram. Cerebral scan showed calcifications in basal ganglia and cerebral cortex. The phosphocalcic assessment showed a hypocalcemia at 46 mg/L, a hyperphosphatemia at 89 mg/L and an intact parathyroid hormone level less than 0.1 μg/ml (8.779.6).
Observation 2: A 21 year old woman, with no particular pathological history, was admitted for severe hypocalcemia symptomatic of tetany attacks, signs of chronic hypocalcemia, complicated by the occurrence of a generalized tonic-clonic seizures. Cerebral MRI revealed calcifications in basal ganglia and cerebral cortex. The phosphocalcic assessment showed a hypocalcemia at 49 mg/L, a hyperphosphatemia at 87 mg/L and an intact parathyroid hormone level at 3 μg/ml (1568). In both cases, the correction of hypocalcemia was initially made by administering calcium intravenously and then orally as well as taking alfacalciferol and neuroleptics. Which allowed a favorable evolution.
Conclusion/Discussion: Fahrs syndrome corresponds to mineral deposits in the blood vessel wall of the basal ganglia, its a disease not well reported in the literature. These etiologies are dominated mainly by hypoparathyroidism. In the presence of neuropsychiatric manifestations associated with calcifications of the basal ganglia, it is imperative to look for phosphocalcic metabolic disorders, in order to detect hypoparathyroidism and thus adopt the most appropriate therapeutic measures.
18 - 21 May 2019
European Society of Endocrinology