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Cardiac thrombus in Omenn syndrome
1Department of Pediatrics, Uludağ University Faculty of Medicine, Görükle-Bursa 16059, Turkey. sebnemkl@uludag.edu.tr
Pediatric Cardiology
|August 10, 2005
Summary
Omenn syndrome, a severe combined immune deficiency, can lead to unusual complications. This case highlights ventricular thrombosis, a rare finding in affected infants, emphasizing the need for comprehensive patient monitoring.
Area of Science:
- Immunology
- Pediatrics
- Cardiology
Background:
- Omenn syndrome is a severe combined immune deficiency (SCID) presenting with erythroderma, lymphadenopathy, hepatosplenomegaly, eosinophilia, and hyper-IgE.
- Affected infants are highly susceptible to recurrent fungal, bacterial, and viral infections due to profound T-cell dysfunction.
Observation:
- A 3-month-old infant diagnosed with Omenn syndrome presented with an unusual complication.
- Echocardiography revealed a round mass occupying the apex and body of the right ventricle, indicative of ventricular thrombosis.
Findings:
- The patient was investigated for hypercoagulable states.
- A diagnosis of ventricular thrombosis was confirmed, an exceptionally rare manifestation in Omenn syndrome.
Implications:
- This case underscores the diverse and potentially severe clinical spectrum of Omenn syndrome.
- Highlights the importance of considering and investigating thrombotic events in infants with Omenn syndrome, even in uncommon locations like the right ventricle.