Metastatic Intrahepatic Cholangiocarcinoma Presenting as an Achalasia-like Syndrome

Abstract

The authors present a case of a 53-year-old woman with cutaneous lupus erythematosus without systemic involvement and no current medication, who was evaluated at our department due to a 4-month history of significant weight loss (approximately 25%) and an initially selective dysphagia for solids, that progressively became non-selective for liquids and solids. The patient denied recent endemic trips, ingestion of caustics, or exposure to radiation. Esophagogastroduodenoscopy revealed a slight dilatation of the esophageal lumen with food stasis, a regular and easily traversed gastroesophageal junction (GEJ), and absence of gastric and duodenal lesions. Esophageal biopsies excluded eosinophilic esophagitis. High-resolution manometry revealed 100% of failed contractions (10% with esophageal pressurization) with an increased integrated relaxation pressure (33.9 mmHg), characteristic of a type I achalasia (Chicago classification version 3.0) (Fig. 1). Pneumatic dilation at 30 mm and 35 mm (Rigiflex, Boston Scientific, Boston, Massachusetts) was performed, without symptomatic improvement. CT detected a solid mass with central hypodensity and peripheral uptake with 4.4 × 3.0 cm in segment II, without clear margins within GEJ structures suggesting infiltration (Fig. 2). In segments V and IV, 2 other hypodense lesions with 2.2 cm and 2.0 cm were identified, suggestive of secondary nature. Histology of the lesion in segment II was obtained through a percutaneous biopsy, showing the presence of an adenocarcinoma with diffuse expression of Cytokeratin (CK)-19 and CK-20, multifocal of Caudal type homeobox-2, and focal of CK-7 (without expression of Thyroid transcription factor-1, aspects favoring a primary neoplasia of the gastrointestinal tract, without microsatellite instability expression. Colonoscopy did not reveal an invasive colorectal neoplasia and subsequent CT for staging presented a dimensional increase in the main lesion and mesenteric enlarged lymph nodes. Positron emission tomography study (F-18 fluorodeoxyglucose) corroborated pericardial, peritoneal, ganglionic, and hepatic metastasis. In a multidisciplinary team discussion, intrahepatic cholangiocarcinoma with distant metastasis was assumed, conditioning invasion at the GEJ level with a consequent pseudoachalasia. The patient was proposed for palliative chemotherapy with cisplatin/gemcitabine and enteral feeding.