Literature DB >> 24042516

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

Akira Kurozumi1, Yosuke Okada, Tadashi Arao, Itsuro Endou, Toshio Matsumoto, Yoshiya Tanaka.   

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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Year:  2013        PMID: 24042516     DOI: 10.2169/internalmedicine.52.8375

Source DB:  PubMed          Journal:  Intern Med        ISSN: 0918-2918            Impact factor:   1.271


  3 in total

Review 1.  Development of a Patient-Reported Outcome Measure for Chronic Hypoparathyroidism.

Authors:  Susan Martin; Kristina Chen; Nimanee Harris; Montserrat Vera-Llonch; Alan Krasner
Journal:  Adv Ther       Date:  2019-06-10       Impact factor: 3.845

2.  Autosomal Dominant Hypocalcemia Type 1 (ADH1) Associated With Myoclonus and Intracerebral Calcifications.

Authors:  Marianne S Elston; Taha Elajnaf; Fadil M Hannan; Rajesh V Thakker
Journal:  J Endocr Soc       Date:  2022-03-18

3.  Co-occurrence of a novel PDGFRB variant and likely pathogenic variant in CASR in an individual with extensive intracranial calcifications and hypocalcaemia.

Authors:  Natasha N DeMeo; Jeremy D Burgess; Patrick R Blackburn; Jennifer M Gass; John Richter; Herjot K Atwal; Jay A van Gerpen; Paldeep S Atwal
Journal:  Clin Case Rep       Date:  2017-11-20
  3 in total

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