Literature DB >> 11102731

Infantile convulsions and paroxysmal kinesigenic choreoathetosis in a patient with idiopathic hypoparathyroidism.

H Hattori1, T Yorifuji.   

Abstract

We reported a 15-year-old boy with idiopathic hypoparathyroidism who presented with paroxysmal kinesigenic choreoathetosis at age 10. Calcium levels were low and intact parathyroid hormones were undetectable in serum. Computed tomography showed calcifications in the basal ganglia, thalamus, and cerebral white matter. He had a history of infantile convulsions with a benign outcome. The convulsions occurred in clusters at age 2.5 months, but they never recurred. This patient's clinical features were phenotypically indistinguishable from those of infantile convulsions and choreoathetosis (ICCA) syndrome

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Year:  2000        PMID: 11102731     DOI: 10.1016/s0387-7604(00)00180-7

Source DB:  PubMed          Journal:  Brain Dev        ISSN: 0387-7604            Impact factor:   1.961


  4 in total

Review 1.  Medical treatment of dystonia.

Authors:  Pichet Termsarasab; Thananan Thammongkolchai; Steven J Frucht
Journal:  J Clin Mov Disord       Date:  2016-12-19

2.  Adult-Onset Isolated Hemichorea Revealing Iatrogenic Hypoparathyroidism and Bilateral Basal Ganglia Calcification.

Authors:  Karan Desai; Priyanka Walzade; Sangeeta Hasmukh Ravat; Pankaj A Agarwal
Journal:  Ann Indian Acad Neurol       Date:  2019-10-25       Impact factor: 1.383

3.  Mutations in the gene PRRT2 cause paroxysmal kinesigenic dyskinesia with infantile convulsions.

Authors:  Hsien-Yang Lee; Yong Huang; Nadine Bruneau; Patrice Roll; Elisha D O Roberson; Mark Hermann; Emily Quinn; James Maas; Robert Edwards; Tetsuo Ashizawa; Betul Baykan; Kailash Bhatia; Susan Bressman; Michiko K Bruno; Ewout R Brunt; Roberto Caraballo; Bernard Echenne; Natalio Fejerman; Steve Frucht; Christina A Gurnett; Edouard Hirsch; Henry Houlden; Joseph Jankovic; Wei-Ling Lee; David R Lynch; Shehla Mohammed; Ulrich Müller; Mark P Nespeca; David Renner; Jacques Rochette; Gabrielle Rudolf; Shinji Saiki; Bing-Wen Soong; Kathryn J Swoboda; Sam Tucker; Nicholas Wood; Michael Hanna; Anne M Bowcock; Pierre Szepetowski; Ying-Hui Fu; Louis J Ptáček
Journal:  Cell Rep       Date:  2011-12-15       Impact factor: 9.423

4.  A Rare but Treatable Cause of Paroxysmal Nonkinesigenic Choreoathetosis.

Authors:  Sahil Mehta; Dheeraj Khurana; Gourav Jain; Vivek Lal
Journal:  Ann Indian Acad Neurol       Date:  2017 Jul-Sep       Impact factor: 1.383

  4 in total

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