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CHARGE Syndrome in a Six-Month-Old Male Infant: A Case Report
Kawtar El Ouassifi1, Anas Douami2, Hind Ouair3
1Allergy and Immunology, Pediatric Infectious Diseases and Clinical Immunology Unit, Abderrahim Harouchi Mother-Child Hospital, Ibn Rochd University Hospital Center, Casablanca, MAR.
Insights
CHARGE syndrome, a rare congenital disorder, is characterized by multiple anomalies. This case highlights the diagnostic process for CHARGE syndrome in an infant presenting with dysmorphism and developmental delay.
Area of Science:
- Genetics
- Pediatrics
- Medical Diagnostics
Background:
- CHARGE syndrome is a rare, complex genetic disorder affecting multiple organ systems.
- Diagnosis relies on specific major and minor clinical criteria, often confirmed by genetic testing.
Observation:
- A six-month-old infant presented with facial dysmorphism, growth delay, and psychomotor impairment.
- Ophthalmologic examination revealed chorioretinal coloboma.
- Cardiac ultrasound identified a persistent ventricular septal defect.
Findings:
- The infant's clinical presentation aligned with diagnostic criteria for CHARGE syndrome.
- Genetic testing confirmed the diagnosis of CHARGE syndrome.
Implications:
- Early and accurate diagnosis of CHARGE syndrome is crucial for timely intervention and management.
- This case underscores the importance of a multidisciplinary approach in diagnosing complex congenital disorders.
- Understanding the genetic basis and clinical manifestations of CHARGE syndrome aids in genetic counseling and family support.
Abstract:
CHARGE syndrome, short for coloboma, heart defects, atresia choanae, growth retardation, genital abnormalities, and ear anomalies, is a rare congenital disorder caused by genetic mutations. The diagnosis is based on a combination of major criteria, such as coloboma of the iris or choroid, choanal atresia, and hypoplastic semicircular canal, and minor criteria, including rhombencephalic dysfunction, hypothalamic-pituitary dysfunction, and malformations of the middle or external ear. Additional associated anomalies include malformations of mediastinal organs (heart, esophagus) and intellectual disability. We present the case of a six-month-old infant who showed signs of facial dysmorphism, delayed growth, and impaired psychomotor development. Ophthalmologic evaluation revealed chorioretinal coloboma. Cardiac ultrasound revealed a persistent ventricular septal defect. Based on the combination of the clinical findings, CHARGE syndrome was suspected and subsequently confirmed by genetic testing.
