Authors: Managi A et al.
Cureus 17(12): e99213, December 14, 2025
This case report describes the successful use of synchronized nasal intermittent positive pressure ventilation (SNIPPV) with the MEdiTRIG pressure trigger system in a full-term neonate diagnosed with Joubert syndrome (JBS), a rare ciliopathy characterized by cerebellar vermis agenesis and the classic “molar tooth sign” on MRI.
JBS is frequently associated with alternating tachypnea and apnea in infancy, likely due to brainstem malformations involving pontine and medullary respiratory centers. These abnormal breathing patterns are notoriously difficult to manage with conventional noninvasive ventilation strategies and are associated with increased neonatal morbidity and mortality.
The patient, a 37-week male infant, presented with median cleft lip, abnormal palate with lingual hamartoma, bilateral polydactyly, and hypotonia. MRI confirmed the molar tooth sign, and genetic testing identified a pathogenic splice-site OFD1 mutation (c.2387+1G>T), consistent with JBS10.
Initial management with biphasic noninvasive positive pressure ventilation (Infant Flow SiPAP®) failed to adequately control frequent apnea episodes, which occurred 30–50 times daily despite FiO2 optimization and initiation of caffeine therapy. On day eight of life, the team transitioned to SNIPPV using the Medin CNO® system with the MEdiTRIG pressure trigger.
Following transition, apnea frequency decreased dramatically to approximately five episodes per day. The system allowed synchronization with spontaneous breathing during tachypnea and delivered backup ventilation during apnea without requiring an invasive catheter or full-feature mechanical ventilator. Importantly, no complications such as nasal trauma, air leak, or hemodynamic instability were observed during SNIPPV use.
Although neonatal stabilization was achieved, long-term home SNIPPV was not feasible due to equipment limitations in Japan, and the patient ultimately underwent tracheostomy on day 82. At one year of age, the child remains ventilator-dependent.
The authors highlight several important considerations:
• SNIPPV provides synchronized support and may reduce work of breathing more effectively than NCPAP.
• The MEdiTRIG pressure trigger allows high-quality synchronization without abdominal pneumatic capsules or diaphragmatic electrical activity catheters (as required for NIV-NAVA).
• This approach may be applicable to other neonatal respiratory disorders involving central dysregulation, including hypoxic-ischemic encephalopathy and neuromuscular conditions.
Limitations include the single-case design and lack of quantitative respiratory data. Additionally, although caffeine has been reported to improve apnea in JBS, no short-term benefit was observed in this case.
Key Points
• Joubert syndrome often causes alternating tachypnea and apnea due to brainstem malformations.
• Standard biphasic noninvasive ventilation may be insufficient for this breathing pattern.
• SNIPPV with MEdiTRIG pressure triggering markedly reduced apnea frequency (30–50/day down to ~5/day).
• The system achieves synchronization without invasive diaphragmatic sensing or full ventilators.
• Equipment limitations prevented long-term home SNIPPV use, leading to tracheostomy.
This case expands the literature by demonstrating feasibility of SNIPPV with precision pressure triggering in a non-preterm neonate with central respiratory dysregulation.
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