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; Yoshiya Tanaka

doi:10.2169/internalmedicine.52.8375

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, Yoshiya Tanaka

Author information

Keywords: extrapyramidal symptoms, advanced calcification, basal ganglia, autosomal dominant hypocalcemia

JOURNAL OPEN ACCESS

2013 Volume 52 Issue 18 Pages 2077-2081

DOI https://doi.org/10.2169/internalmedicine.52.8375

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Abstract

Most 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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