Congenital diaphragmatic and perineal hernias

Case contributed by Heba Abdelrahman

Presentation

Severe respiratory distress. Generalized skin laxity and redundancy (cutis laxa).

Patient Data

Age: 20 days
Gender: Female

Nasogastric tube (arrow) coiled in the lower part of the left side of the chest above the left diaphragmatic copula.

X-ray

Chest and upper abdomen - follow up

Gas-filled gastric shadow (arrows) with a nasogastric tube inside, below the level of diaphragm in the abdomen.

CT

Chest with oral contrast

Contrast-filled stomach at the left side of the chest above the diaphragm.

CT

Chest, abdomen and pelvis with oral contrast

Hiatus hernia containing the contrast-filled stomach.

Part of the rectum and sigmoid colonic loops herniating posteriorly to the left ischiorectal fossa.

Case Discussion

Congenital hiatus hernia is a very rare disease and congenital posterior perineal hernia is even rarer and considered one of the least common types of hernias.

The presence of both congenital hernias in the same patient suggests marked tissue laxity as in this case of cutis laxa (CL) which is a general term for a group of rare disorders named after the characteristic skin phenotype; they are multi-systemic disorders and commonly involve the visceral organs.

Repeated herniation and repositioning of the stomach that was noted in the serial follow up x-ray can cause serious respiratory distress and alarms for rapid surgical correction to avoid serious complications.

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Case information

rID: 66359
Published: 8th Jun 2019
Last edited: 8th Jun 2019
Inclusion in quiz mode: Included

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