Airway Obstruction as the First Clue: Syndromic Neurocristopathy With Neuroblastoma, Hirschsprung Disease, and PHOX2B Mutation in a Neonate

Key Points

• To examine a case of syndromic neurocristopathy presenting with airway obstruction in a neonate.
• Detailed clinical observation of symptoms in the neonate
• Literature review of associated syndromic conditions
• Genetic testing for mutations, including PHOX2B
• Confirmed airway obstruction due to neurocristopathy
• Identified associated conditions: neuroblastoma and Hirschsprung disease
• Detected PHOX2B mutation in the neonate

Abstract