Pathophysiologic and ultrastructural basis for intestinal symptoms in Fabry's disease.

Fabry's disease is a rare, sex-linked disorder of glycolipid metabolism. We describe a patient with watery diarrhea, early satiety, and asymptomatic cholelithiasis. The jejunal aspirate demonstrated bacterial overgrowth; sigmoidoscopy showed rectal angiokeratoma corpora diffusum. The gastric emptying rate measured with 99mTc-sulfur colloid was markedly prolonged and the fasting gastrin was elevated at 276 pg/ml. The (14C)glycocholate breath test demonstrated a markedly elevated peak at 4 h, associated with an increased fecal bile acid loss of 0.82 g/day. Oral cholecystogram showed a solitary radiolucent stone in a functioning gallbladder. The bile acid pool size and lithogenic index were normal. Light microscopy of small bowel and rectal biopsy specimens revealed normal surface epithelium, but enlarged and vacuolated ganglion cells in Meissner's plexus. Electron microscopy showed laminated and amorphous osmiophilic deposits within ganglion cells of the submucosal plexus, within smooth muscle cells of the muscularis mucosae, and within endothelial cells lining arterioles, venules, and capillaries, but not in autonomic nerve fibers or enterocytes. The diarrhea and early satiety responded promptly to metoclopramide and to tetracycline. The early satiety was likely on the basis of delayed gastric emptying due to deposition of sphingolipid within ganglion cells of the autonomic nervous system; the diarrhea was likely on the basis of intestinal stasis with bacterial overgrowth and bile salt wastage.

Early lesions of Crohn's disease.

In its early stages, Crohn's disease may be manifested as small aphthoid ulcers. Because these ulcers are small and shallow, they are difficult or impossible to demonstrate on conventional barium-filled studies of the gastrointestinal tract. Using double contrast techniques, we have been able to demonstrate these early lesions of Crohn's disease in the colon, small bowel, and stomach. The aphthoid ulcers produce a "bulls-eye" or "target" lesion consisting of a small central collection of barium surrounded by radiolucent halo due to the granulomatous inflammation. The appearance is identical in the colon, small bowel, and stomach. The early lesions may be seen adjacent to or at a distance from a segment of more severe disease. In some patients, only these early lesions are found. The radiologic demonstration of these aphthoid ulcers allows for early diagnosis, facilitates differentiation between ulcerative and granulomatous collitis, and is important for planning appropriate therapy.

Villous adenoma of the cecum.

Villous adenoma of the cecum developed in a 49-year-old man; the diagnosis was confirmed at operation. The pathologic and radiologic features of villous tumour in this location differ from those of tumours situated in the sigmoid colon and rectum. Signs and symptoms are vague; bleeding per rectum may not occur. Right hemicolectomy is recommended because of the high malignant potential of this tumour.

Pneumonia in Indian and Eskimo infants and children. I. A clinical study.

Ninety-seven Indian and Eskimo infants and children who suffered 112 episodes of pneumonia were the subjects of a prospective study carried out at the Charles Camsell Hospital, Edmonton, Alberta, from August 1963 until August 1964. Investigation included viral studies and an evaluation 10 days after admission. The patients were divided into four diagnostic categories and a comparison was made between cases of bacterial and viral origin. The frequency of right-sided disease, particularly of the upper lobe and/or dependent segment involvement, is described. An evaluation of physical signs is attempted. The problem of recurrent pneumonia and the differential diagnosis of tuberculosis in Indian and Eskimo children with pneumonia is discussed.