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Transient thyrotoxicosis‐aggravated attacks of paralysis in a patient with hereditary hypokalemic periodic paralysis type 2
Author(s) -
Nagamatsu Shuichi,
Osaki Yasushi,
Morita Yukari,
Miyamoto Yuka,
Mori Itsuki,
Kubota Tomoya,
Takahashi Masanori P.,
Furushima Tomomi,
Furuya Hirokazu
Publication year - 2019
Publication title -
neurology and clinical neuroscience
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.125
0ISSN - 2049-4173
DOI - 10.1111/ncn3.12328
Subject(s) - hypokalemic periodic paralysis , medicine , periodic paralysis , paralysis , pediatrics , missense mutation , mutation , surgery , gene , genetics , biology
We report a case with hereditary hypokalemic paralysis type 2 in whom thyrotoxicosis aggravated his attacks of paralysis. He experienced paralytic attacks several times a year from 24 years of age and was clinically diagnosed with hypokalemic periodic paralysis. At 49 years of age, a laboratory examination showed normal thyroid function. At 57 years of age, transient thyrotoxicosis was accompanied with an increase of the frequency and severity of attacks. Gene analysis revealed a missense mutation (c.2015G>A, p.R672H) in SCN4A , a known pathogenic mutation for hypokalemic paralysis type 2. This case highlights the importance of checking thyroid function when the frequency and severity of attacks are increased in patients with periodic paralysis.