Congenital diaphragmatic hernia - right-sided

Case contributed by Dr Fabien Ho

Presentation

Unremarkable history. Incidental findings on routine pregnancy US screening.

Patient Data

Age: 26 weeks gestation
Gender: Female

Thoracic and abdominal situs concords, with both heart and stomach on the left side.
US assessment of cardiac anatomy is difficult due to poor acoustic window in this patient.
Cardiac axis looks normal, but heart position is shifted to the left: this situation suggests absence of a left-sided structure or a compressive right-sided structure.
Color Doppler shows on the right side a vessel which could be clearly followed from the umbilical cord, compatible with a portal vein sinus. Suspicion of liver ascension within a normal sized-thorax: right diaphragmatic hernia?

MR allows better visualization of lung and liver: lung's signal is hyper T2W while liver's signal is hypo T2W.
MR confirms the right-sided diaphragmatic defect with an intrathoracic liver. Portal vein sinus is seen in the coronal and axial planes as a tubular structure without signal due to flow-voids.
Right lung is not seen.
Left lung is atrophic. Pulmonary volumetry 7 mL, while expected volumetry for gestational age is ~40 mL.

T1 sequence allows meconium identification: hence the colon is found here in the right abdominal upper quadrant. Note that liver is slightly hyper T1W compared to lung as well.

Case Discussion

Most diaphragmatic hernias (90%) are left-sided, thus right-sided account for only 10% of the cases. Diagnosis of left-sided is usually easier thanks to the stomach acting as an acoustic window. US contrast resolution often results in difficulties in distinguishing lung from liver in standard screening, hence small right-sided diaphragmatic hernias may be missed.

MR imaging depicts a clearer image of the anatomy, thanks to its multiplanar analysis and improved contrast.  In fetal US the lung to head ratio is employed, whilst with MR provides additional prognostic factors with estimated fetal lung volume assessment, which is compared to normal fetal lung volume expected for gestational age.

Right-sided hernia may be part of a wider pathology, e.g. Fryns syndrome, which includes additional facial and limb anomalies; this is not the case here.

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Case information

rID: 61528
Published: 6th Jul 2018
Last edited: 14th Aug 2019
Inclusion in quiz mode: Included
Institution: CHU de la Reunion

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