An Unusual Case of the Hiccups and the Blues: Blue Rubber Bleb Nevus Syndrome

Abstract

Introduction: Persistent hiccups or singultus are quite bothersome but seldom a reason for consultation. Gastrointestinal etiologies are related mainly to esophageal or gastric causes (1). Here we describe the first known case of blue rubber bleb nevus syndrome (BRBNS) leading to persistent hiccups and its subsequent treatment. Case Presentation: A 47-year-old male presented with persistent hiccups associated with nausea and vomiting for the past 6 days. Medical history was significant for recurrent GI bleeding episodes from arteriovenous malformations in the esophagus and sigmoid colon. On physical examination, multiple scattered small flat blue nevi were noted on the face, oral mucosa, chest, extremities, and soles. Neurologic exam revealed no obvious focal deficits with specifically no hearing deficits or vertigo and a narrow-based gait. Initial labs were unremarkable with Hgb of 12.5 mg/dL and normal levels of electrolytes, liver function tests, and lipase. A CT scan of the chest demonstrated a long segment of nodular circumferential esophageal thickening. MRI did not reveal any local phrenic nerve compression. An EUS depicted hypertrophied thickened vascular esophageal mucosa in the upper third of the esophagus with no endoscopic evidence of GERD or gastric distention. Fine needle aspiration was performed of the thickened wall but was unremarkable. After excluding CNS causes, cardiothoracic surgery consultation was obtained, but given the history of known esophageal vascular ectasias, medical management was deemed appropriate. The patient was treated symptomatically with chlorpromazine, phenergan, and baclofen. Chlorpromazine was subsequently held secondary to pancytopenia. His hiccups eventually resolved with scheduled metoclopramide and baclofen (2). He continues to follow up in our clinic for surveillance endoscopies. Summary: BRBNS is a rare condition characterized by hemangiomas in the skin, GI tract, and rarely other viscera. Most common clinical presentation is GI bleeding (3). There is suggestion of chromosome 9p involvement with a tyrosine kinase receptor mutation leading to inherited or de novo mutations (2). Differential diagnoses include Sturge-Weber, Von-Hippel Lindau, and Cobb's disease. Current treatment is aimed at surveillance and management of complications. Esophageal causes of persistent hiccups include GERD, esophageal stents, and local nerve compression have been described before (1,4). In the absence of these, we propose that the extraluminal vascular ectasias caused nerve compression and stimulation of the proximal esophageal mechanoreceptors leading to the persistent hiccups.