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Cerebral Venous Thrombosis in a Patient With Smith-Magenis Syndrome
Hovra Zahoor1, Ameer Hamza1, Eboselumen Aigbe1
1Internal Medicine, HCA Florida Orange Park Hospital, Orange Park, USA.
Cureus
|May 1, 2023
Summary
Smith-Magenis syndrome (SMS), a genetic disorder, is linked to a higher risk of venous thrombosis (VT), including cerebral venous thrombosis (CVT). Early recognition of VT in SMS patients is crucial for timely diagnosis and management.
Area of Science:
- Genetics
- Neurology
- Hematology
Background:
- Smith-Magenis syndrome (SMS) is a genetic disorder caused by a 17p11.2 microdeletion, affecting multiple genes including RAI1.
- RAI1 is a dosage-sensitive transcriptional regulator implicated in various systemic manifestations.
Observation:
- Hematological manifestations, specifically venous thrombosis (VT) and cerebral venous thrombosis (CVT), have not been previously reported in SMS patients.
- A 25-year-old female with SMS presented with lethargy and gastrointestinal symptoms, later diagnosed with CVT.
Findings:
- This case report identifies a potential association between SMS and an increased risk of VT.
- The Retinoic-acid-induced (RAI1) gene's role in SMS may influence thrombotic events.
Implications:
- Highlights the importance of considering VT in the differential diagnosis of SMS patients presenting with relevant symptoms.
- Emphasizes the need for a high index of suspicion for early detection and management of CVT in individuals with SMS.
- Suggests further research into the underlying mechanisms connecting SMS and thrombotic risk.
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