A Curious Case of Multimorbidity in a Patient With Goldenhar Syndrome Presenting With Vomiting

Abstract

Goldenhar syndrome, also known as oculo-auriculo-vertebral dysplasia or hemifacial microsomia, is a rare congenital anomaly involving the first and second branchial arches. In this case report, we present a distinctive instance of a 43-year-old male with Goldenhar syndrome who presented with nausea and recurrent bilious vomiting. Initial diagnostic imaging raised concerns about pancreatitis, leading to a comprehensive evaluation that revealed gallstone pancreatitis as the cause of his symptoms. Despite the seemingly straightforward diagnosis, the case was complicated by anatomical abnormalities that required multiple interventions and led to additional complications related to the patient's underlying condition. The complexities of this case highlight the potential challenges in managing what may initially appear to be uncomplicated presentations in patients with Goldenhar syndrome, emphasizing the critical importance of a multidisciplinary approach. This report underscores the need for timely, well-reasoned clinical strategies to ensure optimal care and prevent adverse outcomes in such patients.

Keywords: anatomical variability; gallstone pancreatitis; goldenhar syndrome surgery; hepatitis c (hcv) infection; primary biliary cirrhosis (pbc).

Figure 1. Initial X-ray demonstrating opacification of the right middle and right lower lobes

Figure 2. CT scan of the abdomen and pelvis

The red arrow indicates acute pancreatitis with peri-pancreatic edema and linear fluid, and the blue arrow indicates a 1.3 cm gallstone.

Figure 3. Angiogram of the mesenteric vessels

The blue arrow indicates the superior mesenteric artery, and the red arrow indicates the common hepatic artery.

Figure 4. Angiogram of the mesenteric vessels

The orange arrow indicates the celiac trunk, the blue arrow indicates the splenic artery, and the green arrow indicates the left gastric artery.

Figure 5. MRCP

The red arrow indicates the non-obstructed portal vein. MRCP was performed due to the patient’s elevated LFTs. During the evaluation of the increased LFTs, imaging was conducted to rule out portal vein thrombosis and biliary duct obstruction as potential underlying causes. LFT, liver function test; MRCP, magnetic resonance cholangiopancreatography

Figure 6. Liver biopsy showing mild lobular inflammation and scattered necrotic hepatocytes