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Dealing a Neonate with CHARGE Syndrome:Anaesthesia perspective of perioperative care
Khalid Maudood Siddiqui1, Muhammad Ali Asghar2, Amjad Nadeem3
1Dr. Khalid Maudood Siddiqui, FCPS. Department of Anaesthesia, Aga Khan University Hospital Karachi, Pakistan.
Insights
CHARGE syndrome, a complex disorder affecting multiple body areas, presents unique challenges. This case report details a neonate
Area of Science:
- Genetics and Developmental Biology
- Pediatric Surgery
- Clinical Case Reports
Background:
- CHARGE syndrome is a rare genetic disorder characterized by multiple congenital anomalies.
- Key features include coloboma, heart defects, atresia choanae, growth and genital abnormalities, and ear abnormalities.
- The presentation and severity of CHARGE syndrome vary significantly among affected individuals.
Observation:
- This report focuses on a neonate diagnosed with CHARGE syndrome.
- The neonate presented with choanal atresia, a significant airway obstruction.
- Management involved surgical intervention under general anesthesia with invasive monitoring.
Findings:
- Successful surgical repair of choanal atresia was performed in the neonate with CHARGE syndrome.
- The procedure utilized general anesthesia and invasive monitoring, crucial for managing complex pediatric cases.
- This highlights the feasibility of surgical correction for specific CHARGE syndrome manifestations.
Implications:
- Successful surgical intervention for choanal atresia can improve outcomes for neonates with CHARGE syndrome.
- This case underscores the importance of multidisciplinary care and advanced monitoring in managing complex congenital conditions.
- Further research into surgical techniques and long-term outcomes for CHARGE syndrome patients is warranted.
Abstract:
CHARGE syndrome is a condition that can disturb numerous areas of human body. As an abbreviation CHARGE stands for: coloboma, heart defects, atresia choanae, and retardation of growth, genital, and ear abnormalities. The configuration of malformations differs among individuals with this disorder, and the various health issues can be life-threatening during infancy and childhood. Affected individuals typically have several main features or a combination of major and minor appearances. Here we are presenting a case report of a neonate with CHARGE syndrome who underwent successful repair of choanal atresia under general anaesthesia with invasive monitoring.
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