A 39-year old woman was admitted to Severance Hospital via the emergency room with symptoms of palpitation, dyspnea on exertion and tarry stool for 20 days.
There was no history of pulmonary tuberculosis, hypertension and diabetes mellitus. There was no family history of neurofibromatosis. Five years prior to admission, she visited a private clinic for multiple skin nodules, which she had had since birth, and biopsy from the lesion of the thigh revealed neurofibromatosis. Three years before admission, she had palpitation and dizziness and was hospitalized in another general hospital, where she was discharged with the diagnosis of anemia of unknown origin, in spite of all kinds of examinations. Later she had experienced the above events three times for two years before admission.
Laboratory findings showed iron deficiency anemia at the first admission (October 1988). Simultaneously, UGI series showed no abnormality. Abdominal ultrasonography showed gall bladder dilatation with cystic duct stone and splenomegaly. Endoscopic retrograde cholangiopancreatography showed cystic duct stone. On sigmoidoscopy, internal hemorrhoid with some blood was noticed. After hemorrhoidectomy, she had taken iron pills. For twenty days before readmission, she had had tarry stool with pale face.
On admission, the temperature was 36.9 C, the pulse 70/min and the respirations 14/min. The blood pressure was 100/70 mmHg. The height was 151 cm and the body weight 53 kg. She had a chronically ill-looking appearance. The conjunctivae were pale and the sclerae were not icteric. There were multiple 1-2 cm sized neurofibromas on the whole body, especially on the back (Fig. 1). The chest, heart and abdomen were normal.
The hemoglobin was 5.1 g/dl, the hematocrit 17.4 percent, the white cell was 6,200/mm3 with 66 percent neutrophil. The platelet was 339,000/mm3. The reticulocyte count was 1.6 percent. The corrected erythrocyte sedimentation rate was 0 mm/hr. The urine was normal. The prothrombin time was 12.3 seconds. The calcium was 8.5 mg/dl, the phosphorus 3.1 mg/dl, the glucose 95 mg/dl, the blood urea nitrogen 9.0 mg/dl, the creatinine 0.7 mg/dl, the uric acid 4.4 mg/dl, the total bilirubin 1.2 mg/dl, the alkaline phosphatase 53 IU/l, the SGOT 13 IU/l and the SGPT was 5 IU/L. The electrolyte was within normal limit. The serum iron was 12 mg/dl, the total iron binding capacity was 355 mg/dl and the iron saturation 3.4 percent. The occult blood examination of stool was negative. The antinuclear antibody titration was 1:20 positive and 1:80 negative, and the anti-DNA was 1:10 negative. The electrocardiography was normal.
After transfusion of 5 units of packed red cell, the hemoglobin was 9.9 g/dl, the hematocrit 31.1 percent. The fiberoptic gastroscopy showed mild diffuse chronic superficial gastritis. The UGI series and small bowel series (Fig. 2) revealed no specific abnormal findings. The radionuclide scanning, using 99mTc pertechnate-labelled RBC, revealed abnormal radioactivity in the right lower abdomen and increased activity by the time sequence, which was suggestive of lower gastrointestinal bleeding from the right hypogastric arterial branch (Fig. 3). On the flexible sigmoidoscopy, internal hemorrhoid without evidence of recent active bleeding was found. The superior mesenteric and ileal arteriogram showed bleeding from the left ileal arterial branches (Fig. 4). On the 15th hospital day, operation was performed under the diagnosis of small bowel tumor. There were two masses on jejunum located 60 and 120 cm from the ligament of Treitz, respectively. The distal mass was irregulary lobulated with some ulcerations on its surface, and tumor bleeding into the lumen was noted.
Segmental resection of jejunum with end to end anastomosis and cholecystectomy were performed. Also the skin biopsy on the left breast was performed during the operation. The pathologic diagnosis was neurofibromas of the jejunum (Fig. 5-, 8) and the skin (Fig. 9). The patient has been in good health without intestinal bleeding until now.