Literature DB >> 29033417

Pseudohypoparathyroidism Causing Multiple Brain Calcifications.

Yuya Kobayashi1, Jun Tsuyuzaki1, Yoichi Koizumi1.   

Abstract

Entities:  

Keywords:  Trousseau's sign; brain calcification; hypocalcemia; pseudohypoparathyroidism

Year:  2017        PMID: 29033417      PMCID: PMC5799077          DOI: 10.2169/internalmedicine.8926-17

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


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A 51-year-old Japanese woman without any particular medical and family history presented with the sudden onset of intermittent numbness of the right hand fifth finger. Computed tomography of the head revealed extensive calcification in the bilateral globi pallidi, dentate nuclei, and subcortical white matter (Picture 1-3). However, she did not have any neurological manifestations, such as movement disorder, extrapyramidal signs and cerebellar dysfunction. Trousseau's sign was observed without hyperventilation and it caused her intermittent numbness. Her serum calcium level was 6.1 (normal 8.7-10.3) mg/dL. Serum phosphate, magnesium, and 1, 25-(OH)2 vitamin D levels and thyroid and renal function were normal; intact-parathyroid hormone (PTH) level was 193 (normal 10-65) pg/mL. A diagnosis of pseudohypoparathyroidism was thus made. There was no calcification observed at any other sites characteristic for this disease. She had no physical characteristics typical of Albright's hereditary osteodystrophy and she was classified as type 1b. Her serum calcium levels thereafter normalized and the symptoms disappeared following alfacalcidol treatment. Pseudohypoparathyroidism is rare metabolic disorder which is caused by a dysfunction of PTH receptor and its signal transduction pathway (1). High calcification in the brain can cause seizures (2). Pseudohypoparathyroidism should therefore be considered when obvious, widespread calcification is observed in the brain irrespective of the patient's age.
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The authors state that they have no Conflict of Interest (COI).
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Review 1.  Clinical review: Pseudohypoparathyroidism: diagnosis and treatment.

Authors:  Giovanna Mantovani
Journal:  J Clin Endocrinol Metab       Date:  2011-08-03       Impact factor: 5.958

2.  An epigenetic cause of seizures and brain calcification: pseudohypoparathyroidism.

Authors:  Christian Ritter; Carl H Göbel; Thomas Liebig; Elke Kaminksy; Gereon R Fink; Helmar C Lehmann
Journal:  Lancet       Date:  2015-05-02       Impact factor: 79.321

  2 in total
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1.  Characterizing Cerebral Imaging and Electroclinical Features of Five Pseudohypoparathyroidism Cases Presenting with Epileptic Seizures.

Authors:  Zijuan Qi; Zhensheng Li; Quwen Gao; Li Dong; Jian Lin; Kairun Peng; Wei Xiang; Bingmei Deng
Journal:  Behav Neurol       Date:  2022-08-12       Impact factor: 3.112

  1 in total

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