Fahr’s Syndrome and Secondary Hypoparathyroidism

Abstract

A typical case of Fahr's syndrome is described in a 76-year-old Brazilian female who underwent a total thyroidectomy three decades ago. Six years before the current admission, she started with generalized tonic-clonic seizures. Associated disorders involved extra-pyramidal, cognitive, nocturnal terror and mood changes. With suspicion of hypocalcemia due to secondary hypoparathyroidism, laboratory determinations confirmed the diagnoses. Furthermore, imaging studies of the central nervous system detected multiple calcifications, with characteristic distribution of Fahr's syndrome. Clinical management was successful.

Epilepsy Revealing Fahr's Disease Associated with Hyperparathyroidism

“…The main neurological manifestations of FD are extrapyramidal syndrome (rigidity-hypokinesia)/parkinsonism, movements disorders, cognitive impairment, and mood changes [2,3,4,6,11]. Seizures, encephalopathy, pseudo-stroke (MELAS syndrome), early dementia, confusional syndrome, psychosis, cerebellar ataxia, schizophrenia, and mental retardation are rarely reported [2,3,4,6,11,12,13]. Epilepsy is an exceptional and not well-known neurological manifestation of FD [2,10,12] explaining that the diagnosis of FD is most often fortuitous during a seizure episode, based on the data of the brain imaging [5,8,14].…”

“…The epilepsy associated with FD can be of several types: grand mal [3,6,15]; focal epilepsy [2]; frontal lobe epilepsy [9]; complex partial seizure [10] and West syndrome [16]. Epilepsy may exceptionally be the first manifestation of FD in both sporadic [5,6,8,10,14] and familial forms [2,9] and at any age. Indeed, FD-associated epilepsy has been reported in pediatric patients [2], adolescents [14,17], adults [4,8,10,15], and even geriatrics [6].…”

“…Originally described by Karl Theodor Fahr in 1930 [1], Fahr's disease (FD) is a rare clinico-radiological neurodegenerative entity of unknown origin [2,3,4]. It is characterized by the presence of multiple bilateral and symmetrical intracerebral calcifications, particularly of the basal ganglia [3,5,6]. Its prevalence is estimated at less than 1/1,000,000 [7] and there are currently two forms of FD: sporadic or idiopathic FD [3,6,8] which is the most common, and familial or hereditary FD also called "Primary Family Brain Calcification, PFBC" [2,9].…”

“…It is characterized by the presence of multiple bilateral and symmetrical intracerebral calcifications, particularly of the basal ganglia [3,5,6]. Its prevalence is estimated at less than 1/1,000,000 [7] and there are currently two forms of FD: sporadic or idiopathic FD [3,6,8] which is the most common, and familial or hereditary FD also called "Primary Family Brain Calcification, PFBC" [2,9]. These familial forms are autosomal dominant [2,8] and several mutations have been identified among which are mutations in SLC20A2, PDGFRB, and PDGFB [2,8].…”

Secondary Fahr’s Disease: A Consequence of Post-Thyroidectomy Hypoparathyroidism

“…Fahr’s disease has a very low prevalence (<1 per million population) but is considered under-reported [1] . The disease is characterized by bilateral symmetrical calcium deposition in areas of the brain associated with movement control like the basal ganglia and adjacent parenchyma such as the dentate nuclei, putamen, thalami, cerebral cortex, subcortical white matter, hippocampus and cerebellum [2] . Usually idiopathic, it has however been reported to be associated with disorders of calcium and phosphate metabolism.…”