Fahr syndrome

Fahr syndrome

A rare autosomal dominant movement disorder caused by the abnormal accumulation of calcium in the basal ganglia and the cerebral cortex.
Synonym: familial idiopathic basal ganglia calcification
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Fahr Syndrome is a rare disease where calcium and other minerals are stored bilaterally and symmetrically in the basal ganglia, cerebellar dentate nucleus and white matter.
Fahr Syndrome must be considered for a definitive diagnosis in patients with nonspecific neuropsychiatric symptoms and accompanying calcium metabolism disorders in order to control serious morbidity and complications because of neurological damage.
Keywords: Fahr syndrome, Calcification, Intensive care.
Fahr Syndrome is a disorder associated with various metabolic derangements especially with diseases of the parathyroid gland.1 Besides genetic etiology, developmental, metabolic, infectious, sporadic and other conditions may also cause the disorder.
The case was evaluated as Fahr Syndrome associated with hypoparathyroidism in the light of the laboratory, clinical and radiological findings (Table).
Genetically, Fahr disease is known to have an autosomal dominant inheritance, and families with the disorder have been reported.1 No individuals with similar neuropsychiatric symptoms or who had been diagnosed with Fahr Syndrome were encountered in the family history of our patient.
It is not yet clear whether the calcium deposits are the result of a disruption of the blood brain barrier or whether they are caused by neuronal calcium metabolism disorder.2 It has been reported that calcium accumulation in Fahr Syndrome starts approximately 3 decades before clinical symptoms appear.5 Although the symptoms usually start at the 4th to 6th decade, as with our patient, child cases have been rarely reported.4,6,7
Most Fahr syndrome cases progress symptomatically and they must be followed even when they are asymptomatic.1 Gur, et al., discharged a Fahr syndrome patient that applied with complaints of tetany after his clinical findings improved following replacement of calcium and calcitriol and suggested polyclinic control.9 Yurekli, et al., diagnosed a case presenting with dementia, and observed a reduction in the dementia symptoms after treatment.10 Our patient also displayed neurological deficits due to widespread calcifications.
Replacement of calcium and vitamin D eliminates the metabolic anomaly, and clinically delays negative progression.3 Together with the regulation of the calcium metabolism, various agents were tried for the treatment of Fahr syndrome, including Nimodipine which did not give satisfactory results.
A confusional syndrome revealing a Fahr syndrome with hyperparathyroidism.
The Fahr syndrome and the chronic lymphocytic thyroiditis.
Differential diagnosis included Physiological intracranial calcification and Pathological basal ganglia calcification is due to various causes as hypoparathyroidism (Post-thyroidectomy), pseudohypoparathyroidism, secondary hyperparathyroidism (in renal disease), Fahr syndrome.