Resting energy expenditure in Gaucher's disease type 1: effect of Gaucher's cell burden on energy requirements.

The resting energy expenditure (REE; kcal/d) of 25 patients with Gaucher's disease type 1 was determined by indirect calorimetry. The average observed REE for the group was approximately 44% greater (P less than .01) than that predicted (predicted REE) for these patient's age, sex, height, and weight. The increased caloric requirements of these patients was manifested by a height-for-age less than or equal to the fifth percentile in seven of nine growing children and a muscle mass of less than the fifth percentile in 15 of 19 patients studied. The excess REE (observed REE--predicted REE) for individual Gaucher's disease type 1 patients was directly related to their liver volume as estimated from radionuclide scans and to the mass of the spleen as measured at splenectomy. The relationship between spleen mass and excess REE was demonstrated by an average 22.0% decrease in REE following splenectomy in five patients. Based on these data, the metabolic rate of the splenic tissue removed from the patients was calculated to be 96.8 kcal/d/kg, about twofold to threefold less than that of normal splenic tissue. These findings indicate that the elevated REE observed in these patients resulted from the large mass of Gaucher's cells, which although individually hypometabolic, were cumulatively an excessive metabolic burden. Furthermore, they suggest that indirect calorimetry may be a quantitative tool for measuring disease progression and the effect of therapeutic intervention in Gaucher's disease type 1.

Nutritional assessment of pediatric patients admitted to an acute-care pediatric service utilizing anthropometric measurements.

Two hundred consecutive pediatric patients were given a nutritional assessment at the time of their admission to the hospital. A weight-for-height below the 5th percentile was an indication of acute depletion and a height-for-age below the 5th percentile a sign of chronic depletion. Measurement of weight-for-height and/or height-for-age was below the 5th percentile in 32% of those assessed. Seventy-five percent of the acutely depleted children and 60% of the acute and chronically depleted children had midarm circumferences below the 5th percentile. Midarm muscle circumference below the 5th percentile was significantly more prevalent in all the depleted children. This paper reports the results of our study of the objective (quantitative) elements of our nutritional assessment. These measurements indicate that a significant number of patients are at nutritional risk at the time they are admitted to the hospital. An adequate nutritional assessment cannot be limited to objective considerations, however. A complete medical evaluation of the patient is required, including objective and subjective considerations.

Growth failure as the first expression of malnutrition in children with human immunodeficiency virus infection.

BACKGROUND: To define the onset, pattern, and earliest manifestations of malnutrition related to HIV infection. METHODS: A retrospective cross-sectional analysis of changes in weight and growth in a group of 54 children with perinatally acquired HIV infection was conducted. Eight children had asymptomatic HIV infection, 26 had symptomatic infection, and 20 had symptomatic infection and were referred for nutritional support. RESULTS: We found an early decline in the rate of linear growth with a relative preservation of the weight-for-age. Weight-for-height measurements were preserved until there was advanced HIV-related disease. CONCLUSIONS: This pattern can result in a false impression of adequate nutrition and emphasizes the importance of longitudinal growth data of the child with HIV infection. Evidence of linear growth failure before clinical wasting is apparent is an absolute indication for aggressive nutritional support.

Osseous metaplasia in benign colorectal polyps.

We report two unique cases of metaplastic ossification occurring within a tubulovillous adenoma and a juvenile polyp. In both lesions, well-formed bony spicules were present that were adjacent to living epithelial cells. The metaplastic bone revealed vimentin positivity and cytokeratin negativity. The pathogenesis of osseous metaplasia in colorectal tumors remains unclear, but the process seems to have no clinical significance.

Chronic active hepatitis in a child with human immunodeficiency virus infection.

The pathologic changes in the liver of a child with human immunodeficiency virus infection are described. The liver biopsy specimens show chronic active hepatitis with bile duct damage. To our knowledge, the etiology and pathogenesis of chronic liver disease in children with acquired immunodeficiency syndrome is not known. In this child, chronic active hepatitis is probably related to hepatitis B.

Restorative proctocolectomy in children with ulcerative colitis utilizing rectal mucosectomy with or without diverting ileostomy.

BACKGROUND: Controversies continue concerning the best way to perform restorative proctectomy (RP) for ulcerative colitis (UC). Can rectal mucosectomy and hand-sewn ileoanal anastomosis (IAA) withstand the challenge posed by extrarectal dissection with a double-stapled technique and no mucosectomy? Is a diverting ileostomy mandatory after RP? METHODS: The authors describe 30 consecutive children with UC who underwent RP with rectal mucosectomy and hand-sewn IAA. The authors assess the results and compare the first 14 patients (group 1) treated with temporary diverting ileostomies with the next 16 consecutive patients (group 2) without diverting ileostomies. RESULTS: The average age (13.8 years in group 1 v 10.4 in group 2), duration of illness before resection (3.2 years in group 1 v 1.5 in group 2), and gender breakdown (10 of 14 were girls in group 1, 10 of 16 were girls in group 2) were similar between the two groups. Outcome was not significantly different between the two groups. Average bowel movements per 24-hour period was 5.5 in group 1 and 4.2 in Group 2. Occasional nighttime staining occurred in two patients in group 1 and five in group 2. No one suffered daytime staining in group 1, and one patient had occasional daytime staining in group 2. Average quality of life (on a scale of 0 to 5) as assessed by the patients or parents was 4.4 in group 1 and 4.9 in group 2. There were 10 total complications in group 1. One child required a permanent stoma for ileoanal separation. Two patients required reoperations for complications caused by the diverting ileostomy. The single instance of peritonitis was in group 1 caused by anastomotic leak after ileostomy closure. There were five total complications in group 2, of which, two required temporary stomas for ileoanal separations. CONCLUSIONS: RP with rectal mucosectomy and hand-sewn IAA in children with UC provides good functional results. Peritonitis did not occur in the absence of diversion. Eliminating routine diverting ileostomy avoids the considerable complications and morbidity from the stoma and its closure.

Fatal massive hepatic necrosis: a probable hypersensitivity reaction to sulfasalazine.

Sulfasalazine (salicylazosulfapyridine) is a commonly prescribed oral medication for inflammatory bowel disease. We report a case of a 15-yr-old boy with ulcerative colitis who developed a generalized hypersensitivity reaction with a serum sickness-like syndrome and severe hepatotoxicity while taking sulfasalazine, perphenazine, and amitriptyline. The injury to the liver persisted for 5 months after withdrawal of the drugs, and the patient died of terminal hepatic failure with massive hepatic necrosis. Severe hepatic toxicity to sulfasalazine is uncommon, but it can be fatal.

Esophageal cryptosporidiosis in a child with acquired immune deficiency syndrome.

Oral Candida and Candida esophagitis are common findings in patients with the acquired immune deficiency syndrome. The intestinal protozoan, Cryptosporidium, is known to cause gastrointestinal symptoms in these patients. We report a 2-yr-old child with acquired immune deficiency syndrome, who had oral candidiasis, dysphagia, and vomiting. Upper gastrointestinal endoscopy and esophageal biopsy led to a diagnosis of esophageal cryptosporidiosis. We recommend upper gastrointestinal endoscopy as a diagnostic tool in selected patients with acquired immune deficiency syndrome. This is in contradistinction to a previous report that concludes that endoscopy is not necessary in this setting.

Failure to thrive associated with chronic ulcer disease in a 9-year-old boy.

Chronic peptic ulcer disease is not generally considered to cause failure to thrive. We are reporting a 9-year-old child who suffered from chronic recurrent abdominal pain and failure to thrive. Investigation revealed that the child also had bacterial overgrowth and evidence of malabsorption. These findings were considered to be due to chronic peptic ulcer disease which caused intermittent small bowel obstruction and gastric outlet obstruction. Successful treatment of the ulcer alone resulted in catch-up growth and an end to the chronic recurrent pain. Recurrent abdominal pain when associated with atypical features or failure to thrive should be adequately investigated. Although rare, chronic peptic ulcer disease with its sequelae should be considered in the differential diagnosis of failure to thrive.

Cyclosporine as an alternative to surgery in children with inflammatory bowel disease.

Five children with ulcerative colitis for whom surgery was recommended were treated with cyclosporine. The five had received corticosteroids for 1-24 months. The group included two patients with acute-onset ulcerative colitis and three with acute exacerbations of intractable corticosteroid-dependent chronic ulcerative colitis. The average age at initiation of cyclosporine therapy was 13.8 years (range, 11.5-16); all five patients were boys. Cyclosporine was initiated in the hospital by continuous i.v. infusion. Trough levels of 400-600 ng/dl (measured by radioimmunoassay) were achieved, at which point oral cyclosporine was given and oral dosage was adjusted to similar levels. Significant hypertension requiring medical attention was seen in one patient. Of the two recently diagnosed acute cases, one failed to respond and required subtotal colectomy after 2 weeks of treatment, and the other, despite an initial response, had a subtotal colectomy 10 months later. Of the three corticosteroid-dependent children, none was able to be weaned from corticosteroids and all underwent subtotal colectomy. Our experience emphasizes that the appropriate role of cyclosporine as therapy for children with ulcerative colitis is yet to be determined. Cyclosporine was not effective as an alternative to surgery in our patients.

Salmonella typhimurium appendicitis.

A child with signs and symptoms of acute gastroenteritis developed localization of her pain to the right lower quadrant. A clinical diagnosis of appendicitis was made and an inflamed appendix was found at surgery. The postoperative period was marked by high spiking fevers and profuse nonbloody diarrhea. Cultures of the appendix and the stool revealed Salmonella typhimurium. Nontyphoidal Salmonella organisms are a rare cause of acute suppurative appendicitis. Intraoperative cultures of the appendix and peritoneal fluid as well as postoperative cultures of the diarrheal fluid were crucial in elucidating the cause of this patient's unusual course.

Identical twins concordant for Crohn's disease.

Identical twin adolescent girls developed Crohn's disease within 15 months of each other. Clinical symptoms, growth retardation, barium studies, disease course, and pathologic findings at the time of resection were remarkably similar. Seventeen pairs of twins concordant for Crohn's disease have now been reported, but only four discordant pairs. Such observations lend support to a considerable genetic influence on the development and course of Crohn's disease.

Helicobacter pylori and gastric lymphonodular hyperplasia in children.

The association of gastric lymphonodular hyperplasia and Helicobacter pylori infection has been reported only in children. Lymphonodular hyperplasia of the stomach is a well known radiographic and endoscopic entity. Over the past three decades, it has been associated with many conditions, ranging from a normal variant to a premalignant lesion. We have recently encountered five children with gastric lymphonodular hyperplasia, all of whom had H. pylori infection of the antrum. The literature regarding this association is reviewed, and a possible explanation for this age-dependent expression of H. pylori infection is offered.

Recurrence of autoimmune hepatitis in children after liver transplantation.

BACKGROUND: Liver transplantation is recognized as the appropriate treatment for end-stage liver disease due to chronic active autoimmune hepatitis. While it was initially thought that the disease did not recur after transplant, it is now generally accepted that adult patients may develop recurrent disease, with studies reporting a recurrence rate of < or = 25%. We have noted a higher incidence of recurrent autoimmune hepatitis in our pediatric patients undergoing liver transplant, with a high incidence of associated morbidity. METHODS: We reviewed the records of six children followed up for autoimmune hepatitis who underwent orthotopic liver transplant for complications of end-stage liver disease. RESULTS: Of the six, five developed recurrent autoimmune hepatitis at a mean time of 11.4 months after transplant. The disease was aggressive, leading to cirrhosis and retransplant in three patients, within 1 year of recurrence. A second recurrence of disease occurred in all three retransplanted patients. One patient has received a third liver transplant, one has died, and one patient is asymptomatic on medical therapy. Autoimmune hepatitis recurred in all four patients receiving tacrolimus. CONCLUSION: We conclude that liver transplant for autoimmune hepatitis is likely to be palliative for most pediatric patients. Potent immunosuppressives such as tacrolimus do not protect against the development of recurrent autoimmune hepatitis.

Double-blind, placebo-controlled trial of famotidine in children with abdominal pain and dyspepsia: global and quantitative assessment.

To determine the benefit of using an H2-receptor antagonist in children with abdominal pain and dyspepsia, 25 such children were enrolled in a double-blind, placebo-controlled trial of famotidine. Global and quantitative pain assessments were done before and after each treatment period. The quantitative assessment was calculated based on the abdominal pain score that was the sum of three components. Based on the global evaluation, there was a clear benefit of famotidine over placebo (68% vs 12%). Using the quantitative assessment, however, the mean improvement of the score using famotidine versus placebo was not statistically significant (3.37+/-3.53 vs 1.66+/-2.7). There was a significant improvement in this score during the first treatment period regardless of medication used (period effect: P = 0.05). A subset of patients with peptic symptoms demonstrated a significant drug effect that outweighed the period effect (drug effect: P = 0.01; period effect: P = 0.02). We conclude that famotidine subjectively improves the symptoms of children with recurrent abdominal pain but not objectively using the derived score. However, famotidine is significantly more effective than placebo among children with peptic symptoms. The use of this simple scoring scale may facilitate selecting those children who will benefit from H2-receptor antagonist therapy.

Sonographic evaluation of portal hypertension in children.

Portal hypertension, an expected consequence of cirrhosis, often has an insidious course in children. A noninvasive technique using abdominal sonography has been previously employed by several investigators as a means of diagnosing this condition. Their technique involves sonographically measuring the diameter of the lesser omentum, which increases as a result of engorged collaterals. In this communication, the method is successfully employed in two children, an infant in whom cirrhosis developed who eventually died from acquired immunodeficiency syndrome, and one whose portal hypertension was relieved after orthotopic liver transplantation. Although successful in these two instances, the theoretical basis on which this technique is based is critically evaluated. Anatomical relationships are reviewed that would caution sonographers who attempt to duplicate these studies. Modifications of the technique that will minimize potential false positive results are also discussed.