Recurrent febrile seizures led to the diagnosis of 22q11.2 deletion syndrome in a 12-year-old boy
Author:
Affiliation:
1. Department of Pediatrics, Uwajima City Hospital
2. Department of Pediatrics, Ehime University Graduate School of Medicine
Publisher
The Japan Epilepsy Society
Subject
Neurology (clinical)
Link
https://www.jstage.jst.go.jp/article/eands/14/1/14_51/_pdf
Reference14 articles.
1. [1] Boyarchuk O, Volyanska L, Dmytrash L. Clinical variability of chromosome 22q11.2 deletion syndrome. Cent Eur J Immunol 2017; 42: 412-417.
2. [2] Swillen A, McDonald-McGinn D. Developmental trajectories in 22q11.2 deletion. Am J Med Genet C Semin Med Genet 2015; 169: 172-181.
3. [3] Roubertie A, Semprino M, Chaze AM, Rivier F, Humbertclaude V, Cheminal R, et al. Neurological presentation of three patients with 22q11 deletion (CATCH 22 syndrome). Brain Dev 2001; 23:810-814.
4. [4] Furuya K, Sasaki Y, Takeuchi T, Urita Y. Characteristics of 22q 11.2 deletion syndrome undiagnosed until adulthood: an example suggesting the importance of psychiatric manifestations. BMJ Case Reports 2015; 2015: bcr2014208903.
5. [5] Cabrer M, Serra G, Gogorza MS, Pereg V. Hypocalcemia due to 22q11.2 deletion syndrome diagnosed in adulthood. Endocrinol Diabetes Metab Case Rep 2018; 2018: 17-0140.
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