Metagenomics next-generation sequencing assists in the diagnosis of infant pertussis encephalopathy: A case report
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Updated: Aug 9, 2025

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
Published on: April 4, 2018
Haiyang Zhang1, Xiao Wang1, Han Xia2
1Department of Pediatric Intensive Care Unit, West China Second University Hospital, Sichuan University; Key Laboratory of Birth Defects and Related Diseases of Women and Children (Sichuan University), Ministry of Education, Chengdu, China.
Insights
Early diagnosis of pertussis in infants is crucial. Metagenomic next-generation sequencing of blood and cerebrospinal fluid aids in identifying Bordetella pertussis, enabling timely treatment and recovery.
Area of Science:
- Pediatric Infectious Diseases
- Microbiology
- Genomics
Background:
- Pertussis, caused by Bordetella pertussis, is a severe respiratory infection in infants.
- Complications include pneumonia, encephalopathy, and death.
- Accurate diagnosis is vital for effective treatment.
Rationale:
Pertussis is an acute respiratory infection that often occurs in the pediatric population, especially in infants under 3 months old. Bordetella pertussis is the causative agent of pertussis, which can lead to pneumonia, encephalopathy, and pulmonary hypertension, causing death in severe cases. Therefore, an accurate and comprehensive diagnosis of the pathogen is essential for effective treatment.
Patient Concerns:
We report a case of 2-month-old male infant admitted to the pediatric intensive care unit of West China Second University due to hoarse cough for 7 days, accompanied by a crowing-like echo, fever and listlessness, occasional nonprojectile vomiting with anorexia, shortness of breath, accelerated heart rate, cyanosis of the lips, and convulsions. B pertussis was identified by metagenomic next-generation sequencing in blood and cerebrospinal fluid and polymerase chain reaction assay using blood.
Diagnoses:
The infant was diagnosed with pertussis.
Interventions:
Intravenous infusion of erythromycin (50 mg/kg/d) for anti-infection and dexamethasone for alleviating intracranial inflammatory reaction were given.
Outcomes:
The patient was eventually recovered and discharged.
Lessons:
This case report emphasized the importance of metagenomic next-generation sequencing using cerebrospinal fluid and blood for early diagnosis of pertussis-associated encephalopathy.
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