Congenital diaphragmatic hernia differential diagnosis

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Arooj Naz, M.B.B.S

Overview

Congenital diaphragmatic hernia is a condition that often presents in infants, but there are differential diagnosis' to be considered. Some of these include congenital cystic adenomatoid malformation, bronchopulmonary sequestration, bronchogenic cyst, cystic teratoma, neurogenic tumors, and Pulmonary agenesis. Hiatal hernia is often seen in adults rather than neonates but should still be differentiated from congenital hernias. Various imaging modalities may be utilized to further differentiate the potential diagnosis'.

Differential Diagnosis

Differential Diagnosis for CDH

Condition	Cause	Presenting Symptoms	Workup to differentiate condition from CDH
Congenital Cystic Adenomatoid Malformation	Abnormal cell proliferation and apoptosis; a developmental abnormality	Symptoms present upon compression of surrounding structures in the mediastinum upon growth of cyst	Ultrasound
Bronchopulmonary Sequestration	Lung tissue unconnected to the tracheobronchial tree	Often asymptomatic; larger defects may present with respiratory distress, high output cardiac failure or pleural hemorrhage	Imaging (digital angiography, CT, MRA)
Bronchogenic Cyst	Abnormal budding of the ventral foregut	These often remain asymptomatic and undiagnosed, but may be detected in the setting of an underlying infection	CT
Cystic Teratoma	Rare tumors composed of cells derived from the endoderm, ectoderm, and or mesoderm	Often asymptomatic; an increase in size may result in increased abdominal girth and gastrointestinal and urinary symptoms due to compression	Ultrasound, Pathology specimen examination
Neurogenic Tumors	A lesion of neural crest origin most commonly found in the posterior mediastinum	Symptoms of compression of surrounding structures; cough, shortness of breath, hoarseness	CT, MRI
Hiatal Hernia (Paraesophageal)	Herniation of a portion of the stomach through the phrenoesophageal membrane	Heart burn, Regurgitation, Dysphagia; most commonly present in adults	Manometry, Endoscopy
Pulmonary agenesis	Failure of lung bud development resulting in complete or partial absence of lung tissue; associated with congenital defects	Respiratory distress in newborns	Chest X-ray