Case report Recurrent syncope and hypocalcaemic cardiomyopathy as manifestations of Fahr’s syndrome Marlena Broncel, Marzena Koziróg, Justyna Zabielska, Adam R. Poliwczak Department of Internal Diseases and Clinical Pharmacology, Medical University of Lodz, Poland Submitted: 19 December 2008 Accepted: 5 March 2009 Arch Med Sci 2010; 6, 1: 117-121 DOI 10.5114/aoms.2010.13518 Copyright © 2010 Termedia & Banach A b s t r a c t In our report we would like to present a case of a 60-year-old patient with epileptic seizures, affective disturbances, only mild neurocognitive disorders and cardiomyopathy. A female patient was taken to the internal ward with a tentative diagnosis of recurrent syncope. Laboratory results disclosed severe hypocalcaemia, hypoparathyroidism, and hypothyroidism. An echocardiogram revealed left ventricle systolic dysfunction. Computed tomography revealed massive intracranial calcifications typical for Fahr’s syndrome. Our patient demonstrated only mild neurological and psychiatric symptoms, but developed hypocalcaemic heart failure. It is possible that some cases of Fahr’s syndrome remain undiscovered, particularly patients taken to internal wards with mild neurological or psychiatric signs. Key words: Fahr’s syndrome, cardiomyopathy, attacks of unconsciousness. Introduction Fahr’s syndrome, also called bilateral striatopallidodentate calcinosis (BSPDC), is a disease characterized by symmetric, non-atherosclerotic calcification of the basal ganglia. Both familial and sporadic cases have been previously reported. A locus on chromosome 14q has been identified as associated with BSPDC [1]. Familial type of the syndrome has been previously described [2]. However, it has also been reported that BSPDC is not linked to the IBGC1 locus on chromosome 14q [3]. Calcium deposits are the major element responsible for the radiological appearance of the disease. Hypoparathyroidism and disturbance of calcium metabolism can be responsible for BSPDC development, but cases of patients with normal parathormone levels have also been reported [4]. Pseudohypo- parathyroidism associated with production of biologically inactive form of parathormone can also be connected with BSPDC pathology. It is possible that disturbance of blood flow through basal ganglia associated with arterial malformations cause injury to the blood-brain barrier. A consequence of this may be precipitation and mineralization of serum proteins. Alkaline phosphatase (AP), which plays a role in cellular transport, may also be involved in pathogenesis of BSPDC; increase in AP activity in basal ganglia was observed in patients, while serum AP activity remained beyond normal values. Progressive inflammatory processes in the brain may also be responsible for calcifications [5]. Clinical symptoms of BSPDC are found in the literature as case reports, because the disease is very rare. Corresponding author: Marlena Broncel, MD Department of Internal Diseases and Clinical Pharmacology Medical University of Lodz Kniaziewicza 1/5 Lodz 91-347, Poland Phone/fax: +48 42 651 10 59 E-mail: marlena.broncel @umed.lodz.pl