2023 ACMG Annual Clinical Genetics Meeting Digital Edition: Poster Gallery-Atypical Sotos Syndrome with Normal Length and Late Hyperinsulinemic Hypoglycemia Presentation

Pdf Summary

Sotos syndrome is a rare condition characterized by distinct facial features, overgrowth of height and head circumference, and learning disabilities. While the syndrome is usually diagnosed based on these cardinal features, a case study describes an atypical presentation in a four-month-old male. The patient did not exhibit any cardinal features of Sotos syndrome until nine months of age, leading to a differential diagnosis focused on hypoglycemia. A hypoglycemia panel revealed a pathogenic variant in the NSD1 gene, confirming a diagnosis of Sotos syndrome. <br /><br />Interestingly, the patient experienced transient neonatal hypoglycemia, which is a rare complication of Sotos syndrome typically occurring in the neonatal period. This case underscores the importance of considering Sotos syndrome in patients presenting with recurrent hypoglycemia, even in the absence of evident cardinal features. Unfortunately, most hypoglycemia panels do not include the NSD1 gene, highlighting the need for its inclusion to facilitate early diagnosis and management of Sotos syndrome patients.<br /><br />Early neonatal diagnosis of Sotos syndrome can be challenging, especially in cases with atypical or overlapping phenotypes. Delayed diagnosis can result in extended hospital stays and unnecessary tests. Therefore, it is recommended to include the NSD1 gene in hypoglycemia multigene panels to aid in the early diagnosis and management of Sotos syndrome.<br /><br />In summary, this case study highlights an atypical presentation of Sotos syndrome with late-onset hyperinsulinemic hypoglycemia. It emphasizes the importance of considering Sotos syndrome in patients presenting primarily with recurrent hypoglycemia, as well as the need to include the NSD1 gene in hypoglycemia panels for early diagnosis and appropriate management.

Asset Subtitle

Presenting Author - Megan Fonville, MS, CGC; Co-Author - Eniko K. Pivnick, MD; Co-Author - Nora Urraca, MD, PhD; Co-Author - Stephen Miller, MD;

Meta Tag

Clinical History

Cognitive Disorders

Dysmorphology

Education

Exome sequencing

Genetic Testing

Genotype-Phenotype Correlations

Intellectual disability

NextGen Sequencing

Phenotype

Risk Assessment

Co-Author Eniko K. Pivnick, MD

Co-Author Nora Urraca, MD, PhD

Co-Author Stephen Miller, MD

Presenting Author Megan Fonville, MS, CGC

Keywords

Sotos syndrome

distinct facial features

overgrowth

height

head circumference

learning disabilities

atypical presentation

differential diagnosis

hypoglycemia

NSD1 gene