Purpose or Case Report: A 15 year old female with no significant past medical history except for long standing dysphagia and intermittent chest pain presented for a frontal and lateral radiograph. The x-ray showed a long segment density along the right heart border concerning for mediastinal mass. The patient subsequently underwent a contrast enhanced CT. Diffuse circumferential thickening of the esophagus began just below the thoracic inlet and extending for approximately 17cm to the level of the esophageal hiatus.

Evaluation of the esophageal lumen was performed at our institution utilizing reduced pediatric dose pulsed fluoroscopy with a barium esophagram. While the cervical and upper 1/3 of the thoracic esophagus had a normal lumen diameter and contour, there was irregular contractility and motility throughout the upper esophagus. The lower 2/3 showed narrowing which did distend with barium passage.

At this juncture a biopsy of the lesion was performed with the resulting pathology consistent with a leiomyoma. Preoperative planning MRI was then undertaken. As seen with the CT, diffuse circumferential thickening of the esophagus began just below the thoracic inlet with progressive thickening continuing distally to a maximum thickness just above the GE junction.

The patient subsequently went on to have an Ivor-Lewis esophagectomy with gastric pull through. The diagnosis of diffuse esophageal leiomyomatosis was confirmed by pathology.

Diffuse esophageal leiomyomatosis (DEL) was probably first described by Hall in 1916 in a case report of a 17 year old female who died of starvation due to dysphagia, with the diagnosis subsequently made on autopsy. While some cases of DEL are sporadic, as in our case, there is a well-established association with the x-linked Alport Syndrome, especially in the pediatric population. Up to 5% of Alport patients are affected by DEL and as much as 2/3 of pediatric patients with DEL carry the diagnosis of Alport Syndrome. Esophageal-Vulvar syndrome, characterized by leiomyomata of both the vulva and esophagus, presents with findings of DEL on imaging in many cases, often in young adult females. While presentations may vary, the majority of patients present with long standing dysphagia. An Iver-Lewis esophagectomy with a gastric pull-through is the treatment of choice.
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