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DOI: 10.1590/0004-282X20160180
Epilepsy and early-onset overgrowth syndrome revealing Sotos syndrome
Epilepsia e síndrome de crescimento excessivo de início precoce revelando a síndrome de SotosA 44-year-old woman presented with childhood-onset refractory complex partial seizures. Medical history revealed neonatal macrosomia and hypotonia, early-onset overgrowth in infancy, macrocephaly and mild intellectual disability. Examination revealed macrodolichocephaly with prominent forehead and facial dysmorphisms, scoliosis, large hands and arachnodactyly ([Figure 1]). Neuroimaging showed macrocerebellum, ventriculomegaly and persistent cavum septum pellucidum ([Figure 2]). Clinical and neuroimaging features were diagnostic of Sotos syndrome.
Sotos syndrome or cerebral gigantism is an autosomal dominant or sporadic disorder characterized by early-onset overgrowth syndrome, typical facial dysmorphisms, global developmental delay, epilepsy[1] and neuroimaging findings including midline defects, enlargement of ventricles and macrocerebellum[2].
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Conflict of interest:
There is no conflict of interest to declare.
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References
- 1 Tatton-Brown K, Rahman N. Sotos syndrome. Eur J Hum Genet. 2007;15(3):264-71. http://doi.org/10.1038/sj.ejhg.5201686
- 2 Horikoshi H, Kato Z, Masuno M, Asano T, Nagase T, Yamagishi Y et al. Neuroradiologic findings in Sotos syndrome. J Child Neurol. 2006;21(7):614-8. http://doi.org/10.1177/08830738060210071001
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Publication History
Received: 23 July 2016
Accepted: 03 October 2016
Article published online:
05 September 2023
© 2023. Academia Brasileira de Neurologia. This is an open access article published by Thieme under the terms of the Creative Commons Attribution-NonDerivative-NonCommercial License, permitting copying and reproduction so long as the original work is given appropriate credit. Contents may not be used for commecial purposes, or adapted, remixed, transformed or built upon. (https://creativecommons.org/licenses/by-nc-nd/4.0/)
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References
- 1 Tatton-Brown K, Rahman N. Sotos syndrome. Eur J Hum Genet. 2007;15(3):264-71. http://doi.org/10.1038/sj.ejhg.5201686
- 2 Horikoshi H, Kato Z, Masuno M, Asano T, Nagase T, Yamagishi Y et al. Neuroradiologic findings in Sotos syndrome. J Child Neurol. 2006;21(7):614-8. http://doi.org/10.1177/08830738060210071001