What question did this study set out to answer?

To examine a case of syndromic neurocristopathy presenting with airway obstruction in a neonate.

March 18, 2026

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

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.

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Authors

Olaf Zabłocki

Medical University of Warsaw

Michał Zieliński

Arkadiusz Bołkun

Medical University of Warsaw

Journals

Pediatric Blood & Cancer

Actions

Institutions

Medical University of Warsaw

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

Key Points

Abstract

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Discussion

Authors

Journals

Actions

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References and Citations

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