Successful Respiratory Management Using Synchronized Nasal Intermittent Positive Pressure Ventilation for Abnormal Breath Patterns Associated With Joubert Syndrome

Patients diagnosed with Joubert syndrome (JBS) frequently present with differing respiratory irregularities, including tachypnea followed by apnea, particularly during infancy. Consequently, it is essential to adopt respiratory support strategies tailored to atypical breathing patterns associated with high mortalities. Herein, we report a case of successful respiratory management of abnormal breathing patterns associated with JBS based on synchronized nasal intermittent positive pressure ventilation (SNIPPV) using the MEdiTRIG (Medin Medical Innovations GmbH, Puchheim, Germany) pressure trigger system. A full-term male newborn presented with median cleft lip, abnormal palate with lingual hamartoma, and bilateral polydactyly. Brain magnetic resonance imaging revealed the characteristic molar tooth sign, and subsequent genetic testing identified a pathogenic splice-site variant of the OFD1 gene (c.2387+1G>T), confirming the diagnosis of JBS. Although respiratory management was initially established using bilevel non-invasive positive pressure ventilation, frequent episodes of apnea were observed. However, after transitioning to SNIPPV using the MEdiTRIG pressure trigger system at eight days of life, the frequency of apnea episodes was markedly reduced. This respiratory support enables high synchronization without requiring a conventional ventilator or additional catheter insertion. Our findings indicate that this system is effective for managing neonatal conditions characterized by differing degrees of respiratory disorders, such as JBS, leading to improved clinical outcomes for this patient population.