Pediatria pre prax 6/2017
Sotos syndrome or functional (hormone-making) pituitary microadenoma as a cause of excessive growth in an 11-year-old girl?
Sotos syndrome (cerebral gigantism) is a genetic disorder characterized by prenatal onset of excessive growth, accelerated bone age, craniofacial dysmorphism and learning disabilities. Diagnosis and treatment of patients with excessive growth is not always easy and simple. The authors in the case report present difficulty of diagnosis ant treatment in an 11 – year – old girl with excessive growth and functional (hormone-making) pituitary adenoma. Clinical suspicion of Sotos syndrome was confirmed by direct sequencing of the NSD1 gene.
Keywords: Sotos syndrome, cerebral gigantism syndrome, excessive growth, genetic disorders
