INTRODUCTION: Dysphagia may result from a variety of different disease processes, including inflammation, infection, motility disorders, mechanical causes, or even functional. The etiology is less clear when a patient presents with multiple individual causes of dysphagia, each alone which may account for their symptoms. Our case report describes the coexistence of dysphagia due to several factors in a single patient, and a puzzling presentation warranting further evaluation to ultimately alleviate the underlying complaint. CASE DESCRIPTION/METHODS: We present a case of a 62-year-old female with a past medical history of hypertension that presented to her PCP with 6 months of weakness and limited oral intake. She endorsed issues swallowing and sensation of food stuck in her throat. Dysphagia to solids progressed to include liquids, and with nausea, vomiting, and 40 lbs unintended weight loss. The patient was admitted and failed bedside swallow study. Upper GI series and CT thorax showed hiatal and paraesophageal hernias. EGD revealed GE junction angulation from hernias, as well as esophagitis and gastritis. Manometry demonstrated weak swallows and sparse motility representative of a motility disorder. A gastric tube was placed for continued poor oral intake. She did not tolerate tube feeds, and gastric emptying study showed decreased emptying with marked GERD. EGD biopsies resulted and were consistent with eosinophilic esophagitis and H. pylori. She was prescribed triple therapy and started on PPI. She then had good symptom improvement and was discharged. At 6 week follow-up, the patient was able to tolerate oral intake and plans were initiated for gastric tube removal. DISCUSSION: Our patient exhibited numerous clinical findings that could account for her symptoms: esophageal herniations, eosinophilic esophagitis, H. pylori, an intrinsic motility disorder, and GERD. Though dysphagia has various etiologies, it is exceedingly rare for a single patient to display multiple simultaneous findings that might each individually explain their symptoms. Our case is unique in that the patient demonstrated sources from many different levels, yet given resolution with medication, likely originated from the primary eosinophilic esophagitis. Further investigation revealed the complexities of her case, and culminated in the eventual diagnosis, treatment, and symptomatic improvement. Our case also emphasizes the importance of thorough evaluation, as initial findings may be more complex than first realized.

No abstract

INTRODUCTION: Familial adenomatous polyposis (FAP) accounts for 1% of colorectal cancers (CRC), and if left untreated, has a 100% lifetime probability of developing CRC. Close monitoring is required to mitigate effects. Though rarely reported in literature, neuroendocrine tumors are also noted to occur in FAP despite adenomatous predominance. Our case report describes a patient diagnosed with FAP that underwent prophylactic colectomy and initial treatment, and then decided to cease screening. 16 years later, she presented with metastatic disease arising from a gastric source of neuroendocrine origin. We highlight a rare case of gastric neuroendocrine tumor in FAP without surveillance, a less-understood disease process. CASE DESCRIPTION/METHODS: We present a case of a 38-year-old female with a past medical history of FAP diagnosed at age 22. She underwent prophylactic colectomy with internal ileostomy and treated for several years with imatinib; however, she stopped medication due to side effects, and chose to end routine surveillance. She presented with acute abdominal pain 16 years later, with physical exam findings of abdominal distension, epigastric tenderness, and palpable liver. CT abdomen/pelvis showed gastric mass, innumerable liver masses, and rectal masses. EGD revealed innumerable polyps carpeting entirety of stomach extending into duodenum, and a 5.3cm ulcerated gastric mass. Colonoscopy demonstrated diffuse polyps through the neo-rectal vault and anal canal. Multiple samples were obtained for study, including liver biopsy. Pathology revealed primary gastric neuroendocrine carcinoma with metastasis to liver, while rectal polyps were tubular adenomas. Whole-body imaging did not show any further spread. The patient was informed of her poor prognosis, and opted for discharge on palliative chemotherapy. DISCUSSION: A genetic risk for CRC exists in FAP patients, though they can also develop other cancers, as did our patient. Our case is unique in that a metastatic neuroendocrine gastric tumor in FAP has seldom been reported. An added angle of interest derives from the patient declining standard surveillance, which may have yielded prompt detection of disease progression. However, even if identified early, the paucity of understanding between FAP and neuroendocrine tumors still exists, limiting evidenced-based instruction for intervention and treatment. An inappreciable amount of such cases reported in literature means the association is poorly understood and warrants further study for clinical guidance.

No abstract

INTRODUCTION: Cystic fibrosis (CF) poses considerable morbidity and mortality. Largely identified in children with “typical” pulmonary problems, some present past adolescence and instead display “atypical” complaints. CF liver disease (CFLD) has a significant disease burden as a leading cause of death in CF. Symptom variation makes diagnosing CF in adults difficult. Our case report describes a diagnosis of atypical CF and CFLD in adulthood after nearly two decades of inconclusive findings. The case highlights hepatic sequelae of CF, disease diversity, and the impact of delayed diagnosis. CASE DESCRIPTION/METHODS: We present a 32-year-old African American female first noted to have elevated liver function tests (LFTs) on routine labs at age 16, yet was asymptomatic. Despite numerous clinical encounters over 17 years - including chemistry panels, imaging, and biopsies - the etiology remained unclear. In adulthood, she began experiencing chronic abdominal pain, and was later found to have critically low magnesium levels resulting in a seizure. The differential was expanded, and sweat chloride testing was positive, though genetic testing was negative. Given clinical history of high LFTs with abdominal pain and hypomagnesemia, appearance of symptoms past age 18, and unfixed results, she qualified for the diagnosis of atypical CF with CFLD. Her delayed diagnosis was further masked by unconventional misnomers not typically seen in CF. The patient was enlisted by our CF team for treatment and surveillance, and her LFTs improved. DISCUSSION: Our patient's clinical course made the diagnosis of CF less obvious, including: age, race, lack of family history, absence of pulmonary complications, presence of fertility, and vagueness of complaints. While sweat chloride testing was positive, genetic testing was negative. Retrospectively, each result lends itself to the diagnosis of atypical CF, which may show negative genetics despite sweat testing. The presence of a positive sweat test and clinical history is consistent with non-classic CF, and the chronically elevated LFTs and abdominal complaints were indicative of CFLD. Formal declaration of CFLD is important, as it leads to biliary cirrhosis and portal HTN, imposing high mortality. No gold standard modality exists for CFLD, further making diagnosis difficult in lieu of typical CF features. Our case emphasizes the importance of identifying both atypical CF and CFDL, how limited findings confound diagnosis, and the role of a multi-disciplinary team approach for CF patients.