Congenital diaphragmatic hernia differential diagnosis
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Arooj Naz, M.B.B.S
Overview
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
| Condition | Cause | Presenting Symptoms | Workup to differentiate condition from CDH |
|---|---|---|---|
| Congenital Cystic Adenomatoid Malformation[3] | 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[4] | 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[5] | 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[6] | 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[7] |
| Hiatal Hernia (Paraesophageal)[8] | Herniation of a portion of the stomach through the phrenoesophageal membrane | Heart burn, Regurgitation, Dysphagia; most commonly present in adults | Manometry, Endoscopy |
| Pulmonary agenesis[9] | 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 |
References
References
- ↑ “StatPearls”. 2022. PMID 32310536 Check
|pmid=value (help). - ↑ Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Gripp KW; et al. (1993). “GeneReviews®”. ( ): . PMID 20301533.
- ↑ Adin ME (2016). “Ultrasound as a screening tool in the follow-up of asymptomatic congenital cystic adenomatoid malformation”. Ultrasound. 24 (3): 175–179. doi:10.1177/1742271X16657120. PMC 5105364. PMID 27867411.
- ↑ “StatPearls”. 2022. PMID 30335347.
- ↑ Elahi S, Fecher A, Birdas T, Bridas T (2004). “Mediastinal bronchogenic cyst”. J Ayub Med Coll Abbottabad. 16 (1): 64–5. PMID 15125186.
- ↑ “StatPearls”. 2022. PMID 33231995 Check
|pmid=value (help). - ↑ Rha SE, Byun JY, Jung SE, Chun HJ, Lee HG, Lee JM (2003). “Neurogenic tumors in the abdomen: tumor types and imaging characteristics”. Radiographics. 23 (1): 29–43. doi:10.1148/rg.231025050. PMID 12533638.
- ↑ Chang P, Friedenberg F (2014). “Obesity and GERD”. Gastroenterol Clin North Am. 43 (1): 161–73. doi:10.1016/j.gtc.2013.11.009. PMC 3920303. PMID 24503366.
- ↑ Chawla RK, Madan A, Chawla A, Arora HN, Chawla K (2015). “Pulmonary Agenesis”. Indian J Chest Dis Allied Sci. 57 (4): 251–3. PMID 27164736.
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