Fahr's disease

Abstract

A 35-year-old white man was admitted with generalised tonic-clonic seizures. He had short stature, plethoric facies, shortened metatarsals (figure, left) and metacarpals. Blood tests showed hypocalcaemia, hypomagnesaemia, hyper-phosphataemia, high serum parathyroid hormone, and normal serum creatinine, the combination of which suggested pseudohypoparathyroidism type I. Cerebral computed tomography showed symmetrical dense calcifications in the subcortical white matter of the frontal and parietal lobes and in the basal ganglia (figure, right).Fahr's disease is a neurodegenerative syndrome that is associated with symmetric, intracerebral calcifications in the basal ganglia and adjacent parenchyma, and with neuropsychological, cognitive and movement disorders. It can be idiopathic or associated with endocrinopathy, frequently with parathyroid disorders. A 35-year-old white man was admitted with generalised tonic-clonic seizures. He had short stature, plethoric facies, shortened metatarsals (figure, left) and metacarpals. Blood tests showed hypocalcaemia, hypomagnesaemia, hyper-phosphataemia, high serum parathyroid hormone, and normal serum creatinine, the combination of which suggested pseudohypoparathyroidism type I. Cerebral computed tomography showed symmetrical dense calcifications in the subcortical white matter of the frontal and parietal lobes and in the basal ganglia (figure, right). Fahr's disease is a neurodegenerative syndrome that is associated with symmetric, intracerebral calcifications in the basal ganglia and adjacent parenchyma, and with neuropsychological, cognitive and movement disorders. It can be idiopathic or associated with endocrinopathy, frequently with parathyroid disorders.