A CLINICAL CASE OF CHARGE SYNDROME

CHARGE syndrome is a disorder with an autosomal dominant inheritance pattern and a population incidence of 1 in 8,500–15,000 live births. It is caused by a nucleotide sequence change in the CHD7 gene. Major criteria for the syndrome include coloboma of the eyes, choanal atresia or stenosis, midline defects (cleft lip and/or palate), and congenital malformations of the outer, middle, and inner ear. CHARGE syndrome is characterized by pronounced clinical polymorphism, which complicates diagnosis. In the neonatal period, bilateral choanal atresia can lead to respiratory distress syndrome, which is a frequent cause of neonatal mortality. Other causes of early death include congenital heart disease complicated by heart failure. The manifestations of CHARGE syndrome are extremely variable, leading to molecular genetic confirmation of the diagnosis. However, approximately 30 % of patients do not harbor the mutations. In such clinical situations, the diagnosis is established based on the presence of three core symptoms included in the CHARGE acronym, or two core symptoms and one additional symptom.

Patients with CHARGE syndrome require care from a multidisciplinary team, including a pediatrician, neurologist, endocrinologist, ophthalmologist, otolaryngologist, cardiologist, and cardiac surgeon. In severe cases, the child may need to be admitted to the anesthesiology and intensive care unit. This article describes a clinical case of a newborn with CHARGE syndrome and reviews the current literature on this rare condition.

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