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.
Publication types
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Case Reports
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Research Support, Non-U.S. Gov't
MeSH terms
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Basal Ganglia Diseases / etiology
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Basal Ganglia Diseases / pathology*
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Basal Ganglia Diseases / physiopathology
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Base Sequence
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Calcinosis / etiology
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Calcinosis / pathology*
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Calcinosis / physiopathology
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DNA Mutational Analysis
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Female
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Genes, Dominant
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Heterozygote
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Humans
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Hypercalciuria / complications
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Hypercalciuria / genetics*
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Hypercalciuria / physiopathology*
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Hypocalcemia / complications
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Hypocalcemia / genetics*
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Hypocalcemia / physiopathology*
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Hypoparathyroidism / complications
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Hypoparathyroidism / congenital*
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Hypoparathyroidism / genetics
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Hypoparathyroidism / physiopathology
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Male
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Middle Aged
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Mutation
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Receptors, Calcium-Sensing / genetics
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Tomography, X-Ray Computed
Substances
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CASR protein, human
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Receptors, Calcium-Sensing
Supplementary concepts
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Hypercalciuric Hypocalcemia, Familial