Bilateral strio-pallido-dentate calcinosis (Fahr’s disease): report of seven cases and revision of literature

Abstract

BackgroundFahr’s disease is rare a neurodegenerative idiopathic condition characterized by symmetric and bilateral calcifications of basal ganglia, usually associated with progressive neuropsychiatric dysfunctions and movement disorders. The term “Fahr’s syndrome” is used in presence of calcifications secondary to a specific cause, but the variability of etiology, pathogenesis, and clinical picture underlying this condition have raised the question of the real existence of a syndrome. Several classifications based on the etiology, the location of brain calcifications and the clinical presentation have been proposed. Here we describe seven clinical cases of basal ganglia calcifications, in order to search for pathognomonic features and correlations between clinical picture and imaging findings.Cases presentationThe patients came to our attention for different reasons (most of them for memory/behavior disturbances); all underwent neuro-psychologic evaluation and neuro-imaging. All patients showed variable degrees of deterioration in cognitive function; anxiety and depression were frequent too, and resistant to treatment in all cases. Less frequent, but severe if present, were psychotic symptoms, with different grade of structure and emotional involvement, and always resistant to treatment. We observed only few cases of extrapyramidal disorders related to the disease itself; anyway, mild extrapyramidal syndrome occurred quite frequently after treatment with antipsychotics.ConclusionBased on these findings we discourage the use of the term “Fahr’s syndrome”, and suggest to refer to Idiopathic or Secondary basal ganglia calcification. Unlike early onset forms (idiopathic or inherited), the clinical presentation of late onset form and Secondary basal ganglia calcification seems to be really heterogeneous. Case–control studies are necessary to determine the actual significance of basal ganglia calcification in the adult population and in the elderly, in cognitive, physical and emotional terms.

Cerebroretinal microangiopathy with calcifications and cysts

“…[20,21] However, multiple parenchymal cysts and extensive leukoencephalopathy in our patient were not supportive of these 2 entities. [20,21] Also, the depositing of cerebral calcifications in our patient manifested relatively asymmetric compared with Fahr's disease and idiopathic hypoparathyroidism. [20,21] …”

“…[20,21] Also, the depositing of cerebral calcifications in our patient manifested relatively asymmetric compared with Fahr's disease and idiopathic hypoparathyroidism. [20,21] …”

Unusual cause of hypotension in a polytrauma victim: A case of fahr\'s syndrome

“…It is commonly associated with a myriad of parathyroid function abnormalities such as idiopathic hypoparathyroidism, secondary hypoparathyroidism, pseudohypoparathyroidism, pseudopseudohypoparathyroidism, and hyperparathyroidism. [ 2 ] The incidence of idiopathic hypoparathyroidism as found in our case can be as high as 23%. Hypoparathyroidism often leads to metabolic abnormalities of hypocalcemia and hyperphosphatemia, and can lead to calcification at ectopic sites.…”

Enfermedad de Fahr

“…Recientemente se han descubierto genes implicados en dicha entidad como son SLC20A2 y PDGFRB con pocas diferencias clínicas entre ellos; si bien es cierto que los portadores de la mutación PDGFRB no han presentado calcificaciones en la cortical ni en vérmix. Es un hallazgo incidental objetivable hasta en el 12,5% de los TC cerebrales realizados por motivos no relacionados, según las últimas series 5 . No existen tratamientos específicos en la actualidad, ni aquellos que limiten la progresión de la enfermedad.…”