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Sudden death in childhood in a case of the G syndrome
S L Einfeld1, M J Fairley, B F Green
1Department of Child and Family Psychiatry, Royal Alexandra Hospital for Children, Sydney, Australia.
Insights
A boy with G syndrome died unexpectedly at age 8 due to aspiration, despite surviving previous life-threatening complications. This case highlights the persistent risks associated with swallowing difficulties in G syndrome.
Area of Science:
- Genetics
- Pediatrics
- Clinical Medicine
Background:
- G syndrome is a rare genetic disorder associated with multiple congenital anomalies.
- Patients with G syndrome often face life-threatening complications requiring intensive medical management.
- Swallowing dysfunction is a recognized but often manageable issue in G syndrome.
Abstract:
We report on the unexpected death at almost 8 years of a boy with the G syndrome who had successfully survived many prior life-threatening complications of the condition. The patient had a characteristic facial appearance, hypertelorism, second-degree hypospadias, stridor and cough on feeding with aspiration of barium, and uncoordinated esophageal swallowing mechanism, but no obvious laryngotracheobranchial defect on endoscopy (or coroner's autopsy). He had a prior cardiac arrest and had outgrown need for a tracheostomy. Aspiration is presumed to be the cause of death.
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