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La enfermedad de Gaucher es un desorden hereditario en el metabolismo de los glucocerebrósidos (glucosil ceramidas). Es causada por la deficiencia de glucocerebridasa lisosomal que cataliza la liberación de glucosa de la glucosil ceramida. El exceso de este glucocerebrósido se acumula en las células reticuloendoteliales, las cuales toman su apariencia característica. Masas de estas células de Gaucher infiltran y hacen crecer órganos como el bazo, hígado, nodos linfáticos y alternan la estructura y función de otros órganos como huesos y pulmones. Se han reconocido variantes de esta enfermedad, las cuales parecen ser debidas a diferentes mutaciones, afectando el mismo locus genético o un similar. Se presentan dos casos de esta enfermedad en dos hermanos de raza negra, procedentes de Buenaventura (Valle). El mayor se sexo masculino tiene 18 años, y la hermana 16 años. No hay otros casos en la familia. Se presentan con hepatoesplenomegalia gigante, retardo en el desarrollo físico y sexual y uno de ellos con convulsiones. Se hace el diagnóstico por medio de aspirado y biopsia de medula osea

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El motivo de presentar esta paciente es hacer consciencia entre el cuerpo médico de la existencia de esta entidad, de la cual hay muy pocos casos reportados en la literatura y sólo informe reciente en nuestro país. La colitis colágena es una entidad de etiología no aclarada que se caracteriza histológicamente por la presencia de una banda de colágeno mayor de 7 micras a nivel subepitelial de la mucosa colorrectal y clínicamente por diarrea crónica acuosa profusa, que puede asociarse con dolor abdominal tipo cólico, y estudios tanto de laboratorio como endoscópicos negativos. Se presenta un caso de esta entidad manejado recientemente en el Hospital Universitario del Valle, en quien se tomaron las biopsias aún en presencia de cambios endoscópicos. La respuesta terapéutica a la sulfasalazina y esteroides ha sido aceptable. Finalmente, sugerimos como recomendación que en pacientes con diarrea crónica no explicada, deben tomarse biopsias de colon y recto, a pesar de no presentar cambios endoscópicos

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Se presentan dos casos de tuberculosis rectal: en uno de ellos habia además lesiones de la piel perianal, cuyas biopsias fueron positivas para Bacilo de Koch. Ambos casos presentaban compromiso pulmonar. Se hace asi mismo una breve revisión de la literatura

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Se presentan dos casos de esofagitis aguda severa relacionada con la ingestión de doxiciclina y se lleva a cabo una revisión breve de la literatura, hacindo énfasis en algunas recomendaciones para evitar esta entidad severa

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Although protein-calorie malnutrition (PCM) is known to result in various abnormalities of thyroid function, the exact relationship between the two is not clearly understood. Therefore, the thyroid function of 10 men, 13-55 yr of age, with severe PCM was studied in a clinical research ward before and 3-4 months after protein-calorie repletion. Before repletion, all subjects had low serum T4 (mean +/- SEM, 5.1 +/- 0.5 micrograms/dl) and T3 (74 +/- 6 ng/dl) concentrations. Eight subjects were chemically euthyroid, and their free T4 (1.5 +/- 0.1 ng/dl) and serum TSH (2.9 +/- 1.4 microU/ml) values were normal. Two subjects were chemically hypothyroid, with low free T4 values and high serum TSH values. After repletion, the 8 euthyroid subjects had significant increases in serum T4 (P less than 0.01) and T3 (P less than 0.005), but TSH did not change. Serum T4 and T3 were still lower (P less than 0.05-0.001) and TSH higher (P less than 0.01) than in 28 normal men of comparable age coming from the same area. After repletion, values remained unchanged in the 2 hypothyroid subjects, except for moderate increases in serum T3 and slight decreases in TSH. In all PCM subjects, values of thyroidal exchangeable iodine (23.1 +/- 7 vs. 42.9 +/- 8 mg; P less than 0.02), estimated thyroidal I per g wet wt (1.05 +/- 0.3 vs. 1.99 +/- 0.36 mg; P less than 0.02), and thyroidal iodide clearance (13.8 +/- 1.6 vs. 19.4 +/- 1.3 ml/min; P less than 0.002) were lower before repletion than after; the protein-bound 131I level (72 h; 0.27% vs. 0.08 dose/liter; P less than 0.05) was higher, but thyroid hormone secretion rates (200 +/- 49 vs. 153 +/- 25 micrograms/day) were not significantly different. Thyroid iodide clearance was lower even though plasma inorganic iodine (6.3 +/- vs. 12.5 +/- 3 micrograms/liter; P less than 0.05) and daily urinary iodine excretion (158 +/- 43 vs. 395 +/- 62 micrograms; P less than 0.01) were lower before than after repletion. In 2 PCM euthyroid subjects, baseline thyroid 131I uptake was lower before than after repletion, and the magnitude of the increase after TSH (10 U, im) stimulation was greater when the malnourished state improved. TSH increased concentrations of serum T4 and T3 both before and after protein repletion. After repletion, one hypothyroid patient failed to respond to TSH; the other had a small increase in 131I uptake but not in serum T4 or T3. The results indicate defective thyroid iodine concentration in human PCM, but adequate hormone secretion. This situation leads to depletion of thyroid iodine stores. This alteration, if extreme, might result in hypothyroidism. Adequate protein-calorie intake tends to reverse these abnormalities.

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Divergent available information on the capability of Strongyloides stercoralis to cause malabsorption prompted a long-term observation in which the nutritional state of the subjects was carefully defined. In spite of moderate to severe symptoms, well nourished patients, even with segmental jejunitis, did not show malabsorption. All patients presenting this parasitic infection with concomitant malnutrition showed absorptive defects. Abnormal absorption persisted in spite of parasitic cure when malnutrition was not immediately corrected, and disappeared with correction of the malnutrition even if parasitic infection was allowed to continue. The present experience indicates that the malabsorption syndrome seen in some cases of S. stercoralis infection is secondary to the concomitant malnutrition and not to the parasite per se.

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When 23 healthy native Southwestern Colombian men were studied to determine the prevalence of Enterobacteriaceae in the jejunal microflora in a sample of thoroughly evaluated tropical inhabitants who were normal by physical examination, chest x-ray, and medical history, 14 of the 23 proved to be Enterobacteriaceae-positive, with counts of 10(3) to 10(9) per milliliter of jejunal aspirate. Thirteen had Escherichia coli, and the fourteenth had Klebsiella pneumoniae. Four had a second species of Enterobacteriaceae associated with E. coli: three were K. pneumoniae, and one was Proteus morganii. Laboratory studies routinely done on all subjects disclosed a total of 18 low biochemical values, 17 of which were associated with 12 of the 14 Enterobacteriaceae-positive subjects: six were low in serum cholesterol, four low in serum vitamin B12, four low in D-xylose excretion, and three low in creatinine coefficient; whereas, the Enterobacteriaceae-negative subjects had normal values for all biochemical tests except for serum vitamin B12 in one case. Nitrogen balance means were significantly different for the two groups: 3.39 g for the Enterobacteriaceae-positive subjects and 1.94 g for the Enterobacteriaceae-negative. No relationship was evident when the histology of the jejunal biopsies was compared with the microbiological or laboratory findings. When the 23 subjects were grouped into those (N = 19) with significant microbial recoveries of any type and those (N = 4) without, the data yielded no meaningful relationships.

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Since 1964, 41 patients with strictly defined, severe primary (dietetic) protein malnutrition have been studied under metabolic ward conditions during prolonged periods, initially on a low (20 g) and later on a high (100 g) protein diet. Clinical, nutritional, hematological, intestinal absorptive and histological studies were performed in the malnourished state, during and after protein repletion. Classical signs and symptoms of malnutrition, lasting for at least 4 months, were present in most patients. Mild diarrhea was frequent. All were normoblastically anemic, hypoproteinemic, and hypocholesterolemic; serum folate values were normal or low but serum B12 values were normal or high. Liver biopsy showed fatty liver in the cases where it was performed. Mild malabsorption was detected in over one-half of the patients, with moderate intestinal radiological abnormalities. Malabsorption was independent of concomitant folate deficiency. All the clinical, absorptive and histological abnormalities reversed with treatment consisting only of a high protein diet. In addition to protein lack, another factor has to be invoked in the pathogenesis of the intestinal abnormalities present in severely malnourished adults from rural areas in the tropics.

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Light microscopy evaluation of the intestinal abnormalities seen in 35 severely malnourished adults revealed changes which are common to other well-documented enteropathies. These included shortening, widening and fusion of the villi, lost convolution of the nuclear line, and diminished epithelial cell height. With Masson's trichrome stain, dense material was seen to have accumulated in a subepthelial location in villi (as described in other enteropathies), in crypts, and perivascularly around the capillaries of the lamina propria. Two findings however appear to characterize the severely malnourished state: a consistent, significant reduction of intestinal mucosal thickness, and in many cases atrophy of the crypts. Statistical analysis of the total mucosal thickness data does not justify five but rather three histological categories. With protein repletion as the sole therapeutic modality, 17 patients in which adequate biopsy samples were available at its completion showed significant amelioration of the aforementioned histological abnormalities, as well as normalization of their previous absorptive defects. The mild enteropathy of severe protein malnutrition must be considered in the differential diagnosis of malabsorption in a tropical setting.

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As part of a comprehensive study in adult patients with severe primary protein malnutrition, jejunal ultrastructural studies have been performed in nine adults in the malnourished state. Malnutrition was severe in all. D-Xylose malabsorption and abnormal fecal fat excretion were present in most. The main ultrastructural abnormalities encountered were: microvillar abnormalities such as shortening, diminished numbers, abnormal positioning, branching, and mesalike fusion of the microvilli; and abnormalities in the lamina propria characterized by deposits of osmiodense material and collagen fibers below the basement membrane of the epithelial cells and of the capillaries. None of the aforementioned findings were noted in our control cases. These ultrastructural alterations of severely malnourished adults are nonspecific, since they have already been described in other enteropathies frequently encountered in the tropics.

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PIP: This group of researchers recently reported findings on the overall effect of Ascaris lumbricoides infection on human nutrition. On the basis of available data, it was suggested that intestinal malabsorption is a potential cause of nutritional impairment in children infected with Ascaris lumbricoides. The purpose of this discussion is to present additional data on the effect of Ascaris infection on small bowel function and structure in children. 5 children with heavy Ascaris infection without any evidence of clinical malnutrition were admitted to a metabolic unit. On admission, each child was placed on a constant diet consisting of 82-95 kcal and approximately 1 g protein/kg body weight/day. The amount of dietary fat varied from 55-60 g; the levels of vitamins and minerals in the diet were adjusted to meet the recommended dietary allowances. After an adjustment period of 4-6 days, fecal samples were collected during 2 periods of 4 days each for nitrogen and fat analysis. Peroral jejunal biopsies were obtained using an 8 mm Crosby-Kugler biopsy capsule. The samples were processed and stained according to standard techniques. The children then received deworming treatment consisting of 75 mg piperazine/kg body weight daily for 5 consecutive days. In 4 of 5 children there was reduced fecal nitrogen excretion; the mean reduction represented 6.5% of dietary nitrogen. Steatorrhea was present in 4 children; deworming resulted in a reduction of fecal fat from 9.9-2.3% of dietary fat. 3 children demonstrated an impairment in D-xylose excretion. It returned to normal following deworming in only 1 child. The jejunal morphology was found to be abnormal in all children. In each case a significant improvement was noted soon after deworming. The study results strongly suggest that there is a cause and effect relationship between Ascaris infection and intestinal lesions in children.^ieng

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