Related Experiment Video
Updated: Jun 6, 2025
Protocol and Guidelines for Point-of-Care Lung Ultrasound in Diagnosing Neonatal Pulmonary Diseases Based on International Expert Consensus
Published on: March 6, 2019
[CHARGE syndrome in a neonate]
Bo Gao1, Shu Xiao1, Xiao-Wen Chen1
1Center for Newborn Care, Guangzhou Women and Children's Medical Center, Guangzhou Medical University, Guangzhou 510623, China.
Insights
A rare genetic disorder, CHARGE syndrome, was identified in an infant presenting with severe respiratory distress and distinctive facial features. Genetic testing revealed a CHD7 gene mutation, confirming the diagnosis and guiding critical care decisions.
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.
Abstract:
A female infant, aged 11 days, was admitted due to dyspnea for 11 days after birth, with the main clinical manifestations of inspiratory dyspnea, feeding difficulties, and unusual facies (micrognathia, high palatal arch, cleft palate, glossoptosis, and oblique mouth to the right), and the preliminary diagnosis was Pierre-Robin syndrome. There was no marked improvement after treatment such as ventilator-assisted ventilation, nutrition, and surgical ligation of patent ductus arteriosus. Whole-exome sequencing of the family showed a heterozygous mutation of c.3082A>G (p.Ile1028 Val) in the CHD7 gene, which was a pathogenic mutation of CHARGE syndrome. The neonate was ultimately diagnosed with CHARGE syndrome, and the family decided to withdraw treatment due to concerns about poor prognosis. This article reports a case of CHARGE syndrome caused by a mutation in the CHD7 gene and the multidisciplinary diagnosis and treatment of this disease, in order to provide help for early disease identification and guide clinical decision-making.
Related Concept Videos
01:19Depolarizing Blockers: Pharmocokinetics
01:30Acute Respiratory Failure-III
01:26Pneumothorax-I
Pneumothorax can be even further classified as spontaneous, traumatic, and tension pneumothorax.