Agenesis of the Dorsal Pancreas with Cat Eye Syndrome in an Adolescent Presenting with Abdominal Pain and Pancreatitis

Abstract

Purpose: Case Report: A 17-year-old female with prior diagnoses of Cat Eye Syndrome (CES) and Ehlers-Danlos Syndrome (EDS) Type 1 presented with chronic abdominal pain. Seven weeks prior to presentation she was diagnosed with pancreatitis with an elevated lipase level. CT and ultrasound studies at that time revealed an atrophied and partially fat-replaced pancreas. On presentation at our institution her amylase and lipase were within normal limits however on review of the prior images it was found that the body and tail of the pancreas were absent. An MRCP with secretin revealed an abnormally formed head, neck and proximal body of the pancreas with an absent distal body and tail. There was a small caliber main pancreatic duct but no dilated side branches of the pancreatic duct or calcifications. The gall bladder and intra/extrahepatic bile ducts appeared normal. Secondary to the association of CES with malrotation, an upper GI barium study was obtained and was normal. Fat-soluble vitamin levels were normal. Investigations to rule out autoimmune pancreatitis, cystic fibrosis and diabetes mellitus were normal. Conclusion: We describe an adolescent with CES and EDS with newly diagnosed agenesis of the dorsal pancreas (ADP). This is a rare anomaly with 54 reported cases - predominantly in adults. ADP results from developmental failure of the dorsal pancreatic bud during embryogenesis resulting in agenesis of the neck, body and tail. It can present with hyperglycemia, abdominal pain, pancreatitis, or pancreatic tumors. To our knowledge, CES has never been reported to be associated with ADP, other pancreatic structural anomalies or pancreatitis. In addition, using US and CT, the diagnosis was missed as the absence of the body and tail in the setting of pancreatitis was interpreted as atrophy and fat replacement of the pancreatic tissue. MRCP with secretin provided an invaluable tool to allow further delineation of the pancreatic ductal and parenchymal anatomy without the risk of post-procedure pancreatitis from ERCP. Although we were unable to demonstrate pancreatic exocrine insufficiency, she had some improvement in her pain with pancreatic enzyme supplementation. Many patients with ADP also develop hyperglycemia presumably from loss of beta-islet cell mass. Due to the functional reserve of the endocrine and exocrine pancreas it is possible that these complications may arise with advancing age. We started our patient on an antioxidant cocktail (selenium, ascorbic acid, beta-carotene, α-tocopherol, methionine) to help prevent further free radical injury to the pancreas and help preserve the existing pancreatic tissue.