ABSTRACT
Smith-Magenis syndrome (SMS) is a complex genetic developmental disorder characterized by distinctive physical features, cognitive impairment, developmental delay, and behavioral abnormalities. It is caused by a microdeletion of chromosome band 17p11.2 encoding for multiple genes including the Retinoic-acid-induced (RAI1) gene. RAI1 gene is expressed in many tissues, acting as a transcriptional regulator. It is a dosage-sensitive gene. The variants of the RAI1 gene have been explored with some contributing to systemic manifestations. The hematological manifestations such as venous thrombosis (VT) including cerebral venous thrombosis (CVT) have not been reported to date. We report a case of a 25-year-old female with SMS who presented with lethargy and gastrointestinal symptoms and was diagnosed with CVT. Our case highlights the risk of VT in patients with SMS and therefore holding a high index of suspicion for early diagnosis and management.
