Related Experiment Video
Updated: May 17, 2026
08:58
Development of a Neonatal Piglet Acute Lung Injury Model Recreating the Early Environment of Preterm Infant Lungs
Published on: October 31, 2025
A preterm infant with prolonged respiratory problems due to Ritscher-Schinzel syndrome
S Yurttutan1, M Y Oncel, N Yurttutan
1Zekai Tahir Burak Maternity Teaching Hospital, Department of Neonatology, Ankara, Turkey. sdkyurttutan@gmail.com
Genetic Counseling (Geneva, Switzerland)
|October 18, 2012
Summary
Ritscher-Schinzel syndrome (3C syndrome) can cause severe respiratory issues, like pulmonary hypertension, in newborns. This case highlights the critical need to monitor respiratory health in affected preterm infants.
Area of Science:
- Medical Genetics
- Pediatric Cardiology
- Neonatology
Background:
- Ritscher-Schinzel syndrome, also known as cranio-cerebello-cardiac (3C) syndrome, is an extremely rare disorder.
- It is characterized by a distinct combination of cerebellar, craniofacial, and cardiac abnormalities.
Observation:
- This report details a preterm infant diagnosed with Ritscher-Schinzel syndrome.
- The infant presented with significant and prolonged respiratory difficulties.
Findings:
- The primary cause of the respiratory problems was identified as pulmonary hypertension.
- Cardiac abnormalities are often life-threatening in 3C syndrome, but this case emphasizes respiratory complications.
Implications:
- This case underscores the importance of recognizing and managing pulmonary hypertension in neonates with Ritscher-Schinzel syndrome.
- Early detection and intervention for respiratory complications are crucial for improving outcomes in affected infants.
Related Concept Videos
01:17Pulmonary Cycle: Exhalation
In terms of human respiration, the act of expelling air, known as exhalation (or expiration), operates on the principle of pressure gradients. During expiration, the pressure within the lungs exceeds that of the surrounding atmosphere. Under normal conditions, quiet breathing involves passive exhalation and is free of muscular contractions. This is because the exhalation process is driven by the natural elastic recoil of the lungs and chest wall, both of which have an inherent tendency to...
01:30Acute Respiratory Failure-III
Hypercapnic respiratory failure, also known as Type 2 or ventilatory respiratory failure, is a severe condition characterized by the body's inability to effectively remove carbon dioxide (CO2) from the bloodstream. It leads to an arterial CO2 pressure (PaCO2) exceeding 45 mmHg and a blood pH above 7.35. This situation indicates that the body's ventilatory demand, or the ventilation needed to maintain normal PaCO2 levels, surpasses its supply or the maximum gas flow achievable without causing...
01:05Breathing
The process of breathing, inhaling and exhaling, involves the coordinated movement of the chest wall, the lungs, and the muscles that move them. Two muscle groups with important roles in breathing are the diaphragm, located directly below the lungs, and the intercostal muscles, which lie between the ribs. When the diaphragm contracts, it moves downward, increasing the volume of the thoracic cavity and creating more room for the lungs to expand. When the intercostal muscles contract, the ribs...
01:23Acute Respiratory Failure-IV
Respiratory failure can manifest suddenly or gradually, characterized by a rapid decline in PaO2 and a rapid rise in PaCO2. This situation indicates a severe respiratory problem that may quickly become a life-threatening emergency. One of the early signs of hypoxemic Acute Respiratory Failure (ARF) is a change in mental status due to the brain's sensitivity to oxygen levels and changes in acid-base balance. Symptoms such as restlessness, confusion, and agitation suggest inadequate oxygen...
01:21Acute Respiratory Failure-II
Type I Respiratory Failure, or hypoxemic respiratory failure, occurs when the partial pressure of oxygen (PaO2) in arterial blood falls below 60 mmHg while breathing room air without a corresponding increase in arterial carbon dioxide levels (PaCO2). This condition highlights a significant impairment in the lungs' capacity to oxygenate the blood.
The underlying physiological abnormalities that contribute to hypoxemic respiratory failure include:
The underlying physiological abnormalities that contribute to hypoxemic respiratory failure include:
01:29Acute Respiratory Failure-V
The treatment for acute respiratory failure varies based on factors like the underlying cause, overall health, and severity. A collaborative healthcare team is essential for early detection, often through arterial blood gas analysis. Identifying the cause is the primary goal, with treatment strategies adjusted for ventilation/perfusion (V/Q) mismatch, shunting, or diffusion impairment.
Ensure that patients are monitored continuously for their response to therapy, including changes in...
Ensure that patients are monitored continuously for their response to therapy, including changes in...