Sotos syndrome: a look at cerebral gigantism. Case report.
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Abstract
Background: Sotos syndrome is also known as cerebral gigantism. It is one of the most frequent overgrowth syndromes. Macrocephaly and tall stature are typical characteristics of these children. It is characterized by a distinctive facial appearance (broad and prominent forehead with a dolichocephalic shape, sparse frontotemporal hair, among others), learning disabilities, and body overgrowth. Treatment is aimed at promoting neurological development. Clinical case: we present the case of a preschooler who, in the infant stage, showed an increased head circumference and poor progress in neurodevelopment, with dolichocephaly, bulging forehead, narrow fissures, hypoplastic spine, nostrils pointing upwards, intact palate, posteriorly rotated pinnae, and significant lumbar kyphosis. The molecular test identified a heterozygous variant, missense type: c.5165G>C; p.Cys1722Ser in the NSD1 gene. The patient receives multidisciplinary support with progress in neurodevelopment. Conclusion: Despite its worldwide distribution, Sotos syndrome may not be reported. In addition to its characteristic clinical picture, molecular genetic testing is highly recommended for diagnosis.
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