Sotos syndrome: An interesting disorder with gigantism

• Main Authors: Nalini A, Biswas Arundhati
• Format: Article
• Language: English
• Published: Wolters Kluwer Medknow Publications 2008-01-01
• Series: Annals of Indian Academy of Neurology
• Subjects: Cerebral gigantism; epilepsy; primary optic atrophy; sotos syndrome
• Online Access: http://www.annalsofian.org/article.asp?issn=0972-2327;year=2008;volume=11;issue=3;spage=190;epage=192;aulast=Nalini

We report the case of a 16-year-old boy diagnosed to have Sotos syndrome, with rare association of bilateral primary optic atrophy and epilepsy. He presented with accelerated linear growth, facial gestalt, distinctive facial features, seizures and progressive diminution of vision in both eyes. He had features of gigantism from early childhood. An MRI showed that brain and endocrine functions were normal. This case is of interest, as we have to be aware of this not so rare disorder. In addition to the classic features, there were two unusual associations with Sotos syndrome in the patient.