Related Experiment Video
Updated: Jul 12, 2026
04:46
A Novel Rescue Technique for Difficult Intubation and Difficult Ventilation
Published on: January 17, 2011
21.5K
Congenital Central Hypoventilation Syndrome: A Case Report
Gaurav Kumar1, Shiji Chalipat2, Sudhir Malwade3
1Pediatrics, Dr. D. Y. Patil Medical College, Hospital and Research Centre, Dr. D. Y. Patil Vidyapeeth (Deemed to be University), Pune, IND.
Cureus
|August 19, 2024
Summary
Congenital central hypoventilation syndrome (CCHS) is a rare genetic disorder causing breathing problems. Early diagnosis and genetic testing are crucial for managing this condition and ensuring proper home ventilation support.
Area of Science:
- Pediatric Pulmonology
- Clinical Genetics
- Neonatology
Background:
- Congenital central hypoventilation syndrome (CCHS) is a rare, life-threatening disorder characterized by impaired autonomic control of breathing.
- It necessitates lifelong multidisciplinary care, often including mechanical ventilation.
- Early diagnosis is critical for timely intervention and management.
Observation:
- A two-month-old female infant presented with recurrent apnea and cyanosis.
- The infant required long-term ventilatory support.
- Common causes of apnea were excluded through comprehensive clinical and laboratory evaluations.
Findings:
- Genetic testing confirmed the diagnosis of Congenital central hypoventilation syndrome (CCHS).
- The genetic basis of CCHS underscores its hereditary nature.
- This case highlights the importance of genetic studies in diagnosing rare respiratory disorders.
Implications:
- The infant was discharged on home oxygen therapy and requires ongoing home ventilation.
- Genetic counseling for parents is essential, including information on prognosis and parental testing.
- This case emphasizes the need for specialized care and parental education for CCHS patients.
Related Concept Videos
01:20COPD: Pathogenesis and Clinical Features
Chronic obstructive pulmonary disease (COPD) is a group of lung conditions that progressively worsen over time, including chronic bronchitis and emphysema. This cluster of diseases collectively leads to a gradual and irreversible decline in lung function over time.
The primary cause for the onset of COPD is cigarette smoking and exposure to air pollution. These hazardous factors initiate a chain reaction within the lungs, resulting in chronic inflammation, damage to the airways, and a...
The primary cause for the onset of COPD is cigarette smoking and exposure to air pollution. These hazardous factors initiate a chain reaction within the lungs, resulting in chronic inflammation, damage to the airways, and a...
01:30Pulmonary Hypertension: Classification and Pathogenesis
Pulmonary hypertension (PH) is a severe health condition in which the mean pulmonary arterial pressure increases to 25 mmHg or more, even when the body is at rest. This high pressure in the blood vessels that transport blood from the heart to the lungs can cause various symptoms, including shortness of breath, can lead to right heart failure, and significantly affect the overall quality of life.
There are various classifications for PH, each relating to different underlying causes and also...
There are various classifications for PH, each relating to different underlying causes and also...
01:20Chronic Obstructive Pulmonary Disease-II: Pathophysiology
Chronic Obstructive Pulmonary Disease (COPD) pathophysiology is intricate and multifaceted, involving a complex interplay of physiological processes. Understanding these mechanisms is crucial for effectively managing and treating COPD. Here is an in-depth look at the critical elements in the pathophysiology of COPD:
Chronic Inflammation
Chronic Inflammation
01:25Chronic Obstructive Pulmonary Disease-III: Symptoms and Complications.
Understanding the variety of primary symptoms and systemic complications that characterize chronic obstructive pulmonary disease (COPD) is crucial for healthcare professionals.
Symptoms of COPD can be classified as primary or systemic. Primary symptoms relate to reduced airflow, while systemic or extrapulmonary symptoms relate to COPD's broader impact on the body.
Primary Symptoms of COPD:
Symptoms of COPD can be classified as primary or systemic. Primary symptoms relate to reduced airflow, while systemic or extrapulmonary symptoms relate to COPD's broader impact on the body.
Primary Symptoms of COPD:
01:27Chronic Obstructive Pulmonary Disease-IV: Assessement and Diagnostic Studies
Assessing and diagnosing Chronic Obstructive Pulmonary Disease (COPD) involves a detailed approach that includes a comprehensive review of medical history, physical examination, and a variety of diagnostic tests. This thorough evaluation is essential to ensure an accurate diagnosis and guide effective management strategies.
Medical History
Medical History
01:29Cardiomyopathy III: Hypertrophic Cardiomyopathy
Hypertrophic cardiomyopathy, or HCM, is an autosomal dominant genetic disorder characterized by asymmetric left ventricular hypertrophy without ventricular dilation. It is more common in men and is typically diagnosed in young, athletic adults.EtiologyHCM is primarily genetic and is caused by mutations in genes encoding sarcomeric proteins. Researchers have identified over 1400 mutations across at least 11 different genes. Among these, the most frequently occurring mutations are found in the...