EVALUATION AND DIAGNOSIS OF APPENDICITIS. S. Elad 1 ; 1 UCLA San Fernando Valley/ Olive View Medical Center, Los Angeles, CA LEARNING OBJECTIVES: 1. Recognize the clinical feautures of early appendicitis. 2. Identify atypical presentation of appendicitis. 3. Review common signs and symptoms of appendicitis. CASE INFORMATION: A 30 year old African American male with no significant past medical history presents with a one day history of right lower quadrant pain and constipation. Pt denied nausea, vomiting and anorexia. Pt was able to eat and tolerate both breakfast and lunch without incident. He denied fevers, chills. He was not taking any medications. Family history was noncontributory. He denied allergies and did not use tobacco, alcohol or drugs. On exam the patient was afebrile, pulse rate was 80 and blood pressure was 120/70. The cardiovascular exam was normal and his lungs were clear bilaterally. Abdominal exam revealed normoactive bowel sounds and mild right lower quadrant tenderness to palpation. He had no psoas and no murphys sign. No rebound, no guarding. His stool was heme negative. Neurological exam was within normal limits. Abdominal x-ray revealed right colon full of stool with no air fluid levels and no fecalith. Lab studies: NA 138 K 3.8 Cre 1.2 ALT 29 WBC 8 Hgb 12 Hct 39 Alk P 73 AST 36 TBili 0.5 Pt was sent home with diagnosis of constipation and given milk of magnesium and fleets enema. Pt returned to ER the following morning with complaints of worsening abdominal pain and anorexia. CT of abdomen revealed para appendiceal stranding. Pt was taken to the operating room for emergent appendectomy. Pt was found to have a gangrenous appendix with micro-perforations. Pt required a five day hospitalization and was discharged on oral antibiotics. DISCUSSION: The diagnosis of early appendicitis is often difficult to make. Classically appendicitis presents as a pentad of signs and symptoms consisting of RLQ pain, anorexia, vomitting, low grade fever and leukocytosis. Typically, there is a history of pain beginning in the peri-umbilical region that migrates to the RLQ. However, this presentation occurs in only 50% of patients. The location of the appendix may also alter the presentation of pain. A retrocecal appendix may cause flank pain whereas an appendix in the pelvis may elicit tenderness on rectal exam. Although the WBC is elevated in 80% of patients, patients with early appendicitis may have a normal WBC. The diagnosis of acute appendicitis remains a challenge to clinicians with up to a 20% missed diagnosis rate. Recently, studies have suggested that the introduction of focused appendiceal CT would reduce the cost of caring for patients with suspected appendicitis and aid in diagnosis. Prompt diagnosis of appendicitis can avert the development of complications such as perforation and subsequent septicemia. Physicians should rely on both their clinical judgement and the aid of radiological evaluation in the diagnosis of acute appendicitis. year-old male presented in clinic requesting genetic testing for Huntington's Disease (HD). Several of his family members had developed late-onset choreiform disorders. His nearest affected relative was an uncle who developed symptoms after age 60, progressively worsening until his death 5 years later. The patient's parents died of other causes and his siblings were well. The patient's physical exam was unremarkable. He demonstrated no involuntary movements; no abnormalities in sensation, motor strength, coordination, or gait; and no deficits in concentration, memory, or intellect. The patient was counseled as to the risks and benefits of testing. In particular, he was informed that no treatment exists to cure or forestall the course of the disease nor could the advent of symptoms be predicted. The patient continued to express a desire for testing, primarily to alleviate his anxiety with possibly harboring a genetic predisposition to HD. Laboratory testing revealed alleles with approximately 28 and 40 CAG repeats, consistent with high genetic burden for HD. 28 CAG repeats indicated a normal mutable HD allele which may expand upon transmission to offspring (27±35) while 40 CAG repeats was consistent with individuals who typically show features of HD ( > 39). The patient was informed of the results and their interpretation and referred to a neurologist for further discussion and counseling. DISCUSSION: Huntington's disease is a degenerative brain disorder with autosomal dominant inheritance manifested by chorea and dementia. Initial involuntary movements may not be noticed by the patient, but symptoms progress to irregular, sudden movements of the limbs and trunk, which can be disabling. Deficits in attention, memory, and judgment can be present as well as depression, social withdrawal, and disinhibition. Genetic testing for HD carries with it several important clinical and ethical implications. A positive test result implies an inherited mutation that will lead to the disaese at some unknown future date, with no available cure or even effective treatment. Protocols for pre-and post-test counseling have been proposed to address the potential psychological consequences, including anxiety, depression, family and marital stress, survivor's guilt, and even suicide. Anonymous testing has also been suggested to alleviate fears of discrimination in employment and insurance. year-old female presented with several days of increasing cough, wheezing, and dyspnea. She was in good health until 18 months prior when she first developed a non-productive cough. Six months later, she noted intermittent wheezing that increased in frequency and intensity. Recently she developed dyspnea at night when lying down. Inhaled steroids and bronchodilators gave little improvement. She denied fevers, chills, abdominal pain, and symptoms of acid reflux. Her past medical history was significant only for hypothyroidism treated with thyroxine. She had never smoked and had no pets. On examination, the patient was afebrile and not tachypneic. She was able to speak in complete sentences and coughed frequently. A loud, monophasic, inspiratory wheeze was audible without a stethoscope. Auscultation of the lungs revealed stridor. Prior pulmonary functions tests were reported as normal. Inspiratory and expiratory PA and lateral radiographs of the chest revealed a 2 cm diameter soft tissue mass in the tracheal air column. This mass moved from the carina at inspiration to the level of the clavicular heads at expiration. A subsequent CT scan of the thorax confirmed a distal tracheal mass. The patient was admitted for bronchoscopy to remove the tumor. Pathological examination found that the tumor did not fit with any known entity and was conjectured to be a hamartoma-like lesion of the seromucinous glandular tissue normally present in the distal trachea. DISCUSSION: Primary tracheal neoplasms are extremely rare, accounting for fewer than 0.1% of cancer deaths. They occur with equal frequency in men and women, most often between the ages of 30±50. The most common presenting symptoms relate to airway obstruction, notably cough, wheezing, dyspnea, and recurrent pneumonia. A "tracheal syndrome" of dyspnea, wheezing, stridor, hemoptysis, and voice change is present in up to 85 percent of patients with primary tracheal neoplasms. As this case illustrates, the diagnosis of primary tracheal neoplasms is typically marked by significant delay between the onset of symptoms and proper diagnosis. One study reported an average delay of eight months for malignant lesions and 25 months for benign tumors. Most patients are unsuccessfully treated for presumptive diagnoses of asthma or chronic bronchitis, with little improvement, before a diagnosis of a tracheal neoplasm is made. Other diagnoses, including tracheal neoplasms, should be considered when the usual treatment for asthma does not improve the symptoms.