[CHARGE syndrome in a neonate]

Area of Science:

• Genetics
• Pediatrics
• Rare Diseases

Background:

• CHARGE syndrome is a complex genetic disorder with a wide spectrum of congenital anomalies.
• Early diagnosis is crucial for appropriate management and genetic counseling.
• Pierre Robin sequence can present with overlapping features, necessitating differential diagnosis.

Purpose of the Study:

• To report a case of CHARGE syndrome diagnosed via whole-exome sequencing.
• To highlight the role of the CHD7 gene in CHARGE syndrome.
• To emphasize the importance of multidisciplinary care in managing this condition.

Main Methods:

• Clinical presentation and diagnostic workup of an 11-day-old female infant.
• Whole-exome sequencing to identify genetic mutations.
• Multidisciplinary team approach for diagnosis and treatment planning.

Main Results:

• The infant exhibited symptoms consistent with Pierre Robin syndrome, including dyspnea and dysmorphic facial features.
• Whole-exome sequencing identified a heterozygous c.3082A>G mutation in the CHD7 gene, confirming CHARGE syndrome.
• Despite supportive care, the infant's prognosis was poor, leading to treatment withdrawal.

Conclusions:

• This case underscores the utility of genetic sequencing in diagnosing rare conditions like CHARGE syndrome.
• CHD7 gene mutations are a significant cause of CHARGE syndrome.
• Early identification and comprehensive management are vital for improving outcomes in infants with CHARGE syndrome.