Airway Obstruction as the First Clue: Syndromic Neurocristopathy With Neuroblastoma, Hirschsprung Disease, and PHOX2B Mutation in a Neonate
Puntos clave
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
Resumen
The authors declare no conflicts of interest. Data sharing not applicable to this article as no datasets were generated or analyzed during the current study.