• Internal medicine · Jan 2013

    Case Reports

    Extrapyramidal symptoms and advanced calcification of the basal ganglia in a patient with autosomal dominant hypocalcemia.

    • Akira Kurozumi, Yosuke Okada, Tadashi Arao, Itsuro Endou, Toshio Matsumoto, and Yoshiya Tanaka.
    • The First Department of Internal Medicine, School of Medicine, University of Occupational and Environmental Health, Japan, Japan.
    • Intern. Med. 2013 Jan 1; 52 (18): 2077-81.

    AbstractMost cases of hypoparathyroidism with decreased parathyroid hormone (PTH) secretion, excluding secondary hypoparathyroidism, are considered to be idiopathic. We herein report a relatively rare case of hypoparathyroidism with extrapyramidal symptoms, including brachybasia and a frozen gait, caused by advanced basal ganglia calcification in a 64-year-old man with hypoparathyroidism. A DNA (deoxyribonucleic acid) analysis of blood samples obtained from the patient and his eldest daughter revealed autosomal dominant hypocalcemia (ADH) with mutations in the calcium-sensing receptor (CaSR) gene. In cases of chronic hypoparathyroidism, calcification of the basal ganglia is observed if the patient is not treated for a long period. However, extrapyramidal symptoms as a complication of hypoparathyroidism are relatively rare.

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