1/389. Through a shade darkly. A 43-year-old man complained of difficulty seeing in dim light (nyctalopia). A prolonged photostress test and abnormal electroretinogram confirmed retinal rather than optic nerve dysfunction. vitamin a deficiency secondary to remote ileal-jejunal bypass was diagnosed, and his visual symptoms and signs reversed with oral vitamin A supplementation. ( info) |
2/389. Missense mutations in SGLT1 cause glucose-galactose malabsorption by trafficking defects. glucose-galactose malabsorption (GGM) is an autosomal recessive disorder caused by defects in the Na /glucose cotransporter (SGLT1). Neonates present with severe diarrhea while on any diet containing glucose and/or galactose [1]. This study focuses on a patient of Swiss and Dominican descent. All 15 exons of SGLT1 were screened using single stranded conformational polymorphism analyses, and aberrant PCR products were sequenced. Two missense mutations, Gly318Arg and Ala468Val, were identified. SGLT1 mutants were expressed in xenopus laevis oocytes for radiotracer uptake, electrophysiological experiments, and Western blotting. Uptakes of [14C]alpha-methyl-d-glucoside by the mutants were 5% or less than that of wild-type. Two-electrode voltage-clamp experiments confirmed the transport defects, as no noticeable sugar-induced current could be elicited from either mutant [2]. Western blots of cell protein showed levels of each SGLT1 mutant protein comparable to that of wild-type, and that both were core-glycosylated. Presteady-state current measurements indicated an absence of SGLT1 in the plasma membrane. We suggest that the compound heterozygote missense mutations G318R and A468V lead to GGM in this patient by defective trafficking of mutant proteins from the endoplasmic reticulum to the plasma membrane. ( info) |
3/389. Familial enteropathy: a syndrome of protracted diarrhea from birth, failure to thrive, and hypoplastic villus atrophy. We have studied 5 infants with persistent severe diarrhea from birth and marked abnormalities of absorption associated with failure to thrive leading to death in 4 infants. Three had siblings who died and a sibling of a 4th is ill at present, all with a similar illness; 2 were the products of consanguinous marriages. Exhaustive investigation failed to identify a recognized disease entity in any patient. steatorrhea, sugar malabsorption, dehydration, and acidosis were severe in all patients, whatever the diet fed. Total parenteral nutrition was used, but excessive stool water and electrolyte losses persisted even when nothing was fed by mouth. There was no evidence of a hematological or consistent immunological defect in any infant and no abnormalities of intestinal hormones were noted. In the duodenal mucosa of all infants we saw similar abnormalities characterized by villus atrophy, crypt hypoplasia without an increase in mitoses or inflammatory cell infiltrate in the lamina propria and in villus enterocytes absence of a brush border, increase in lysosome-like inclusions, and autophagocytosis. In 3 infants studied by marker perfusion of the proximal jejunum we found abnormal glucose absorption and a blunted response of Na absorption to actively transported nonelectrolytes; in 2 there was net secretion of Na and H2O in the basal state. Our patients evidently suffered from a congenital enteropathy which caused profound defects in their capacity to assimilate nutrients. The similar structural lesion seen in the small intestinal epithelium of all of our cases undoubtedly contributed to their compromised intestinal function, but the pathogenesis of this disorder, if indeed it is a single disease, remains obscure. ( info) |
| After transit through the small intestine barium enters the large intestine and its characteristics in that gut segment can be studied. The pattern of distribution of barium in the colon is always altered in patients with malabsorption syndromes. The physical basis for this alteration is analysed in a manner analagous to that used in soil mechanics. The dispersal of barium granules within the liquid-solid content of the colon is related to certain factors among which is the polarisation and electrical potential of barium particles. A technique using four radiographs which permits evaluation of barium dispersal in the colon - colonic granulometry - is described. Lastly, the authors point out the necessity of classical barium studies in identifying the rare anatomical anomalies that can be the starting point of a typical clinical coeliac syndrome. ( info) |
5/389. early diagnosis of pediatric Wernicke's encephalopathy. Wernicke's encephalopathy may be fatal if untreated. Because Wernicke's encephalopathy is suspected to be underdiagnosed in children, the authors wished to assess the frequency of overlooked diagnosis and to establish pertinent findings that could lead to early identification of pediatric Wernicke's encephalopathy. The authors performed multiple literature searches seeking pediatric patients with Wernicke's encephalopathy (age = 20 years or younger). A total of 30 patients was found, and the authors added a new patient. Each case report had its clinical, radiologic, and laboratory data, diagnostic method, and outcome analyzed. Of 31 patients, 16 were female and 15 male; the median age /- S.D. was 11 /- 6.5 years. The most frequent underlying disorder was malignancy in 11. Thirteen patients died undiagnosed, 16 recovered with thiamine therapy (eight with sequelae), and two died of infection soon after thiamine replacement was initiated. Only six presented with the Wernicke's encephalopathy clinical triad (mental status changes, ocular signs, and ataxia) at neurologic onset; nine eventually demonstrated this triad. The high rate of patients diagnosed only at postmortem examination (41.9%) confirms that Wernicke's encephalopathy is underdiagnosed in children. thiamine therapy is warranted if any component of the Wernicke's encephalopathy triad is present in an appropriate clinical setting. ( info) |
6/389. Primary hypomagnesemia caused by isolated magnesium malabsorption: atypical case in adult. Isolated magnesium malabsorption is a rare disorder, which bas been described in no more than 30 patients worldwide. patients with this disorder typically present with convulsion and diarrhea in early infancy. Hypomagnesemia and hypocalcemia were found in a 35-year-old man with muscle cramps, who bad been diagnosed as primary hypoparathyroidism. Oral magnesium therapy corrected the low serum calcium, magnesium and parathyroid hormone levels. We report an atypical case of isolated magnesium malabsorption in an adult. ( info) |
7/389. Imerslund-Grasbeck syndrome in an African patient. Imerslund-Grasbeck syndrome (IGS) is a rare cause of megaloblastic anaemia in young children. We wish to report the first case described from africa. The diagnosis of IGS was made on the findings of a low vitamin B12 level, mild proteinuria, and a vitamin B12 absorption test unaffected by the intrinsic factor. The patient responded well to treatment with intramuscular vitamin B12. ( info) |
8/389. Musculoskeletal manifestations of osteomalacia: report of 26 cases and literature review. OBJECTIVE: This study was undertaken to describe the musculoskeletal manifestations in a selected population of 26 patients with biopsy-proven osteomalacia (OM) and provide a literature update. methods: The 26 patients with biopsy-proven OM were selected from a total number of 79 patients who underwent anterior iliac crest biopsy. The diagnosis of OM was confirmed by the presence of an osteoid volume greater than 10%, osteoid width greater than 15 microm, and delayed mineralization assessed by double-tetracycline labeling. RESULTS: OM was caused by intestinal malabsorption in 13 patients, whereas six other patients presented with hypophosphatemia of different causes. Five elderly patients presented with hypovitaminosis D, and in two patients the OM was part of renal osteodystrophy. Twenty-three patients presented with bone pain and diffuse demineralization, whereas three other patients had normal or increased bone density. Characteristic pseudofractures were seen in only seven patients. Six of the 23 patients with diffuse demineralization had an "osteoporotic-like pattern" without pseudofractures. Prominent articular manifestations were seen in seven patients, including a rheumatoid arthritis-like picture in three, osteogenic synovitis in three, and ankylosing spondylitis-like in one. Two other patients were referred to us with the diagnosis of possible metastatic bone disease attributable to polyostotic areas of increased radio nuclide uptake caused by pseudofractures. Six patients also had proximal myopathy, two elderly patients were diagnosed as having polymalgia rheumatica, and two young patients were diagnosed as having fibromyalgia. One of the patients who presented with increased bone density was misdiagnosed as possible fluorosis. CONCLUSION: OM is usually neglected when compared with other metabolic bone diseases and may present with a variety of clinical and radiographic manifestations mimicking other musculoskeletal disorders. ( info) |
9/389. Unusual combination of night blindness and optic neuropathy after biliopancreatic bypass. night blindness and optic neuropathy were the presenting symptoms of an iatrogenic malabsorption syndrome in a 64-year old female. This case illustrates the necessity of lifelong vitamin supplementation after biliopancreatic bypass for morbid obesity. ( info) |
10/389. vitamin a deficiency phrynoderma: due to malabsorption and inadequate diet. We describe a patient with vitamin a deficiency phrynoderma caused by a combination of inadequate dietary intake of vitamin A and beta-carotene and malabsorption secondary to primary visceral myopathy and total colectomy. ( info) |