The Leading Diagnosis

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2390 derlying hematologic disorder (such as sickle cell disease, thalassemia, or glycerophosphoryl diester phosphodiesterase deficiency, all of which are more common in blacks) might also underlie her previously diagnosed anemia. Other less common causes of small-intestinal bleeding and pain include tumors, mesenteric ischemia, Meckel’s diverticulum (although the pain is typically less severe), and endometrial deposits along the intestinal tract with pain that may correlate with the periodicity of the menses. On examination, the patient was afebrile, with a heart rate of 100 beats per minute, a respiratory rate of 16 breaths per minute, an oxygen saturation of 100% while she was breathing ambient air, and a blood pressure of 115/65 mm Hg. Her height was 65 in. (165.1 cm), and she weighed 115 lb (52.3 kg). She was restless on the gurney, clutching her abdomen. Her sclerae were anicteric, and her conjunctivae were pale. The oropharynx was normal, and the neck was supple, without lymphadenopathy. The heart sounds were regular, and the lungs clear. There was no chestwall or flank tenderness. Abdominal examination revealed hyperactive bowel sounds and diffuse tenderness on palpation without rebound tenderness, organomegaly, or masses. The rectal examination showed no masses. A stool sample was brown and was negative for occult blood. The pelvic examination revealed no masses, cervical motion, or adnexal tenderness. There was no edema in the legs. The neurologic examination was normal. The observations that the patient is restless (as compared with the still appearance that would be expected in diffuse peritonitis), that she is clutching her abdomen but not avoiding touch, and that she has hyperactive bowel sounds and no rebound tenderness argue against generalized peritonitis, although these findings do not rule out early peritoneal inflammation. On this occasion, there is no occult blood in her stool, but conjunctival pallor suggests profound anemia. Given her history, I continue to be concerned about gastrointestinal blood loss, and I wonder in particular about inflammatory bowel disease as the cause of her condition. Admission to the hospital is warranted to determine the cause of her severe pain. A negative serum human chorionic gonadotropin (hCG) test would rule out ectopic pregnancy. If routine labo- T h e n e w e ng l a nd j o u r na l o f m e dic i n e n engl j med 357;23 www.nejm.org december 6, 2007 ratory tests do not point to the source of pain, urgent abdominal imaging with computed tomography (CT) is indicated. CT is more sensitive than plain radiography for detecting the presence and source of intraabdominal free air, and it may reveal small-bowel obstruction or bowel-wall thickening. This latter result, although nonspecific, would be compatible with bowel-wall edema due to ischemia, infection, inflammation, or neoplastic infiltration. Given my low suspicion for infection, this finding might lead to endoscopic evaluation of the bowel. The serum sodium, potassium, and calcium levels were normal. The blood urea nitrogen level was 9 mg per deciliter (3.2 mmol per liter), creatinine 0.6 mg per deciliter (53 μmol per liter), lipase 22 U per liter (normal range, 1 to 60), aspartate aminotransferase 25 U per liter (normal range, 8 to 31), alanine aminotransferase 10 U per liter (normal range, 7 to 31), alkaline phosphatase 55 U per liter (normal range, 39 to 117), and total bilirubin 0.3 mg per deciliter (5.1 μmol per liter) (normal range, 0.1 to 1.2 mg per deciliter [2 to 21 μmol per liter]). The white-cell count was 6400 per cubic millimeter, with 87% neutrophils, 9% lymphocytes, and 4% monocytes. The hematocrit was 23%, with a mean corpuscular volume of 65 μm 3 . A peripheral-blood smear showed 2+ microcytosis, 2+ hypochromia, and no other abnormal cells. A serum test for hCG was negative. Dipstick testing of a specimen of voided urine revealed a specific gravity of 1.022 and a pH of 5.0; tests for protein, leukocyte esterase, nitrites, and blood were negative. Urine microscopical examination showed no white or red cells. These results rule out ectopic pregnancy. Pyelonephritis would be unlikely without pyuria, and, although no amylase level was reported, the normal lipase level argues against pancreatitis. Advanced cholecystitis and cholangitis are unlikely given the normal results of the liver-function tests. A normal white-cell count soon after the onset of symptoms does not rule out bowel obstruction or inflammatory processes such as appendicitis. The most salient findings are the low hematocrit and mean corpuscular volume. Iron deficiency and thalassemia are the most common causes of these values. In this patient with metromenorrhagia and bleeding from the rectum, iron deficiency is a more likely cause. Although her menorrhagia could ac- The New England Journal of Medicine Downloaded from nejm.org by LOKESH VUYYURU on May 18, 2012. For personal use only. No other uses without permission. Copyright © 2007 Massachusetts Medical Society. All rights reserved.
count for her iron deficiency, I am very suspicious about a bleeding lesion in the bowel. Her severe pain makes me particularly worried about obstruction or perforation. I would order a CT scan of the abdomen before considering endoscopic evaluation. A CT scan of the abdomen showed intussusception of a segment of small intestine (Fig. 1). Small-bowel intussusception in a 23-year-old is unusual. This finding suggests that there is a “leading edge” (protruding tissue) that has caused the small intestine to telescope on itself. During normal intestinal propulsion, such tissue becomes an intraluminal bolus and moves distally, causing ischemia as the blood supply is compromised. Causes of small-intestinal intussusception include tumors, endometrial implants, foreign bodies, and unusual endoluminal infections such as ascariasis. In the United States, benign and malignant neoplasms are the most likely causes of smallbowel intussusception. I would obtain surgical consultation. The patient received a transfusion of 2 units of packed red cells before laparoscopically assisted surgical exploration. Intraoperatively, a jejunojejunal intussusception was identified, and a firm irregular mass was palpated at the leading edge of the intussusception. There was no evidence of ischemia. The intussusception was manually reduced and the mass and adjacent jejunum were then resected. A pedunculated polyp measuring 4 by 2 by 2 cm was sent to the pathology laboratory. The differential diagnosis of small-bowel polyps includes adenomas, adenocarcinomas, lymphomas, carcinoid tumors, metastases, hamartomas, and hyperplastic polyps. Primary or metastatic intestinal cancer would be unusual at this age. Of the benign tumors, hamartomas can protrude into the intestinal lumen and cause intussusception. Hamartomatous polyps are characteristic of the Peutz– Jeghers syndrome, a disorder that also includes pigmented mucocutaneous lentigines. While awaiting the interpretation of the pathological examination, I would examine the patient for these occasionally overlooked findings. On closer inspection, several small hyperpigmented lentigines were detected on the patient’s fingers (Fig. 2A), tongue, and everted lips (Fig. 2B). clinical problem-solving Figure 1. CT Scan of the Abdomen. Small-bowel intussusception is shown by the “bowelwithin-bowel” appearance (arrow) created when the leading edge telescopes into the lumen. ICM AUTHOR Baudendistel RETAKE 1st REG F FIGURE 1 of 3 2nd CASE 3rd TITLE Revised EMail Line 4-C Enon ARTIST: mst SIZE A H/T H/T FILL Combo 16p6 AUTHOR, PLEASE NOTE: Figure has been redrawn and type has been reset. Please check carefully. B JOB: 35723 ISSUE: 12-6-07 Figure 2. Hyperpigmented Lesions. Hyperpigmented lesions are shown on the fingers (Panel A) and on the lips (Panel B). ICM AUTHOR Baudendistel RETAKE 1st REG F CASE FIGURE 2a&b of 3 TITLE 2nd 3rd Enon ARTIST: mst H/T 4-C H/T FILL Combo 16p6 She stated that these lentigines had been Revised EMail present Line since childhood. SIZE The Peutz–Jeghers AUTHOR, syndrome PLEASE is NOTE: my leading diagno- Figure has been redrawn and type has been reset. sis. It would explain Please the check mucocutaneous carefully. lentigines and intestinal polyp with bleeding. I would also JOB: 35723 ISSUE: 12-6-07 n engl j med 357;23 www.nejm.org december 6, 2007 2391 The New England Journal of Medicine Downloaded from nejm.org by LOKESH VUYYURU on May 18, 2012. For personal use only. No other uses without permission. Copyright © 2007 Massachusetts Medical Society. All rights reserved.
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