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01-03-2017 | Letter to the Editor

Infantile spasms in Williams–Beuren syndrome with typical deletions of the 7q11.23 critical region and a review of the literature

Author: Debopam Samanta

Published in: Acta Neurologica Belgica | Issue 1/2017

Excerpt

Williams–Beuren syndrome (WBS), a contiguous-gene-deletion disorder, is caused by 1.5–1.8 Mb heterozygous deletion of chromosome 7q11.23. Epilepsy has been rarely reported with the standard deletion, whereas larger deletions with telomeric extension can have severe cognitive delay and severe epilepsy including infantile spasms (IS). Recently, Nicita et al. reported epilepsy as a possible feature in association with typical deletion; however, less than ten cases of IS have been reported with the smaller typical deletion of WBS and there is a dearth of literature on critical review of these cases [1]. …

Nicita F, Garone G, Spalice A et al (2015) Epilepsy is a possible feature in Williams–Beuren syndrome patients harboring typical deletions of the 7q11.23 critical region. Am J Med Genet A 170(1):148-155CrossRef

Samanta D, Ramakrishnaiah R (2015) De novo R853Q mutation of SCN2A gene and West syndrome. Acta Neurol 115(4):773–776CrossRef

Tsao CY, Westman JA (1997) Infantile spasms in two children with Williams syndrome. Am J Med Genet 71:54–56CrossRefPubMed

Tercero MF, Cabrera López JC, Herrero MM, Rodríguez-Quiñones F (2005) Williams–Beuren syndrome and West “syndrome”: causal association or contiguous gene deletion syndrome? Am J Med Genet A 133A:213–215CrossRefPubMed

Morimoto M, An B, Ogami A et al (2003) Infantile spasms in a patient with Williams syndrome and craniosynostosis. Epilepsia 44:1459–1462CrossRefPubMed

Röthlisberger B, Hoigné I, Huber AR, Brunschwiler W, Capone Mori A (2010) Deletion of 7q11. 21-q11. 23 and infantile spasms without deletion of MAGI2. Am J Med Genet 152A:434–437CrossRefPubMed

Mizugishi K, Yamanaka K, Kuwajima K, Kondo I (1998) Interstitial deletion of chromosome 7q in a patient with Williams syndrome and infantile spasms. J Hum Genet 43:178–181CrossRefPubMed

Title: Infantile spasms in Williams–Beuren syndrome with typical deletions of the 7q11.23 critical region and a review of the literature
Author: Debopam Samanta
Publication date: 01-03-2017
Publisher: Springer International Publishing
Published in: Acta Neurologica Belgica / Issue 1/2017
Print ISSN: 0300-9009
Electronic ISSN: 2240-2993
DOI: https://doi.org/10.1007/s13760-016-0635-0

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Infantile spasms in Williams–Beuren syndrome with typical deletions of the 7q11.23 critical region and a review of the literature

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