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Endocrine Abstracts (2013) 32 P130 | DOI: 10.1530/endoabs.32.P130

Department of Endocrinology and Metabolism Diseases, Ankara University Faculty of Medicine, Ankara, Turkey.

Background: Fahr’s disease is a rare degenerative disorder characterized by symmetrical and bilateral intracranial calcification. Movement disorders are the most common symptoms of Fahr’s disease and dystonia is an uncommon presentation which accounts for only 8% of symptomatic patients.

Case report: A 47 years old female admitted to emergency department with involuntary movements of extremities and anxiety. Neurological examination was normal except repetetive contractions and involuntary movements mainly on left arm and leg. In her medical history subtotal thyroidectomy was performed for multinoduler goiter 28 years ago. There was no family history of neurological disease. She was consulted by neurology for insomnia and anxiety 5 years ago. Valproic acid and haloperidol were given with the diagnosis of epilepsia and insomnia. She has had involuntary movements for 2 years which worsened during the last 2 months and her life quality decreased rapidly. Her symptoms considered to be the side effect of haloperidol treatment and drug was stopped, but no improvement was observed after the discontinuation of haloperidol. On the laboratory, serum calcium was 6.8 mg/dl (normal 8.4–10.6 mg/dl), phosphate 4.8 mg/dl (normal 2.3–4.7 mg/dl), albumin: 4.1 mg/dl, parathormone was 0.25 pg/ml (normal 15–65 pg/ml). EMG showed 400–500 ms non-rhythmic bursts which is typical for dystonia. Cranial CT revealed massive calcifications involving basal ganglia, thalamus and cerebellar nuclei. The results supported the diagnosis of Fahr’s disease caused by hypoparathyroidism. Serum calcium level was increased to acceptable range after calcitriol and calcium carbonate treatment and resulted in complete resolution of dystonia.

Conclusions: We present a case of Fahr’s disease caused by longstanding hypoparathyroidism and manifested with dystonia, an unusual presentation of disease.Though it is rare, it is important to remember that hypoparathyroidism can be the cause of Fahr’s disease accompanied by unusual neurological disorders.

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