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Description

Congenital diaphragmatic hernia (CDH) occurs in 2.3:10K births. CDH is a developmental defect of the diaphragm allowing abdominal contents to herniate into the thoracic cavity. About 50% of CDH cases are diagnosed antenatally. Clinical presentation varies from asymptomatic to severe respiratory failure at birth. Congenital neuroblastoma (CNB) occurs in 1:8K live births and is an embryonal neural crest tumor. About 20% of cases are diagnosed antenatally and 16% are diagnosed within the first month of life. Presentation of CNB is highly variable; about 20% present with spinal cord compression. The co-occurrence of these two rare diseases has been described in 1 other case report. Both diseases have proposed pathophysiologic mechanisms involving disturbance of the retinoic acid pathway. This case describes a baby girl incidentally diagnosed with both CDH and CNB.

Publication Date

5-9-2025

Disciplines

Pediatrics

Comments

2025 Research Day Corewell Health West, Grand Rapids, MI, May 9, 2025. Abstract 1803

Serendipitous X-Rays: Back-to-Back Incidental Findings of Congenital Diaphragmatic Hernia and Congenital Neuroblastoma on Routine Neonatal XR

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