Foregut duplication cyst with vertebral anomalies

Case contributed by Marya Hameed
Diagnosis almost certain

Presentation

Recurrent chest infection and vomiting since birth.

Patient Data

Age: 8 months
Gender: Male

CASE OF THE MONTH: This case was selected as the Case of the Month for December 2023.

A tubular cystic lesion in the posterior mediastinum extends craniocaudally from subcarinal region through esophageal hiatus to the abdomen along the entire length of esophagus and stomach. It displaces and compresses the carina. It measures 166 x 62 x 81 mm. No enteric communication identified. No evidence of esophageal atresia.

Associated failure-of-formation vertebral anomalies, including hemivertebra and butterfly vertebra of the upper dorsal spine.

Case Discussion

Foregut duplication cysts are congenital malformations due to abnormal division of the primitive foregut during early intrauterine life.

They can be classified into three groups:

Enteric cysts are typically closely related to the gastrointestinal tract and may contain one or two muscle layers. The cyst may lie within the musulcaris propria which splits around the lesion. Muscle contraction is sometimes observed in the cyst wall on ultrasound. The less common tubular cysts may communicate with the gut lumen. Vertebral anomalies occur infrequently.

Biopsy carries a significant risk of infection and is usually avoided. Symptomatic lesions are excised and histology is characteristic. Ectopic elements may be present including gastric mucosa or pancreatic tissue which can give rise to ulceration, hemorrhage or perforation. Malignancy is rare.

Uncomplicated bronchogenic cysts are thin-walled and typically parabronchial. Neurenteric cysts present with neurological features due to their intraspinal location and have associated vertebral anomalies.

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