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Challenges in diagnosing diaphragmatic eventration in a neonate with Fryns syndrome and cleft palate

Year: 2025

Type: article

Abstract: Diaphragmatic eventration is a rare congenital anomaly characterized by the replacement of diaphragmatic muscle with fibroelastic tissue, leading to diaphragm elevation and functional impairment. While it can occur in isolation, it is sometimes associated with congenital syndromes, including septo-optic dysplasia (SOD). This report presents a case of diaphragmatic eventration in a neonate with Fryns syndrome presenting with cleft palate and SOD, highlighting diagnostic challenges. A late preterm female neonate, born via cesarean at 36 weeks gestation, presented with respiratory distress and required intubation and surfactant therapy. Physical examination revealed features suggestive of Fryns syndrome, including coarse facies, microphthalmia, and cleft palate. Imaging studies, including chest X-ray and thoracic ultrasound, raised suspicion of diaphragmatic hernia, but subsequent MRI confirmed diaphragmatic eventration. Additional cranial imaging identified agenesis of the corpus callosum, colpocephaly, and optic nerve hypoplasia, leading to the diagnosis of SOD. Diaphragmatic eventration, though rare, can present in neonates with other congenital anomalies, making diagnosis challenging. In this case, the overlapping symptoms with cleft palate and SOD complicated the clinical picture. Early imaging, including MRI, is crucial for accurate diagnosis and timely management. Multidisciplinary follow-up is essential for optimal patient care.

Source: Radiology Case Reports

DOI: 10.1016/j.radcr.2025.07.049