A - 63 Sotos Syndrome: a Case Study

Abstract

Abstract Objective Sotos syndrome is a genetic disorder characterized by pre and postnatal overgrowth and a non-progressive neurological disorder frequently accompanied by intellectual disability. The estimated prevalence is 1:14,000 live births; however, misdiagnosis is common due to features being attributable to other conditions. This case study highlights the broad range of symptom presentation in individuals with Sotos syndrome and adds to the limited available literature on this rare condition. Method The patient is a 26-year-old female with no prior neuropsychological testing presenting with concerns for cognitive functioning, regression of skills, and emotional/behavioral dysregulation. Concerns were raised for an underlying autism spectrum disorder. She presents with large stature, prominent facial configuration, and hypotonia. Developmental history was significant for delayed motor and language milestones. She has a history of absence seizures in childhood and was evaluated by neurology and medical genetics and diagnosed with Sotos syndrome. Results The patient’s overall intellectual functioning was in the exceptionally low range with a personal strength in verbal skills. Her neurocognitive results and low adaptive skills are indicative of a moderate intellectual disability. The patient’s developmental history, social difficulties, restrictive interests, and repetitive behaviors met criteria for autism spectrum disorder. Another notable finding was frequent starring spells in which she became unresponsive for approximately 15 seconds. Conclusion Delayed motor and language milestones, hypotonia, behavioral problems, and intellectual disability are common in individuals with Sotos syndrome and were present in the patient. Seizures and scoliosis are less common in individuals diagnosed, for which she was referred to a neurologist for further work-up.