Manifestations and linkage analysis in X-linked autoimmunity-immunodeficiency syndrome.

The clinical findings of a kindred with an X-linked disorder are characterized by autoimmune polyendocrinopathy, enteropathy with villous atrophy, chronic dermatitis, and variable immunodeficiency. Linkage analysis was performed on 20 members of the affected kindred to determine the location of the responsible locus. Informative recombinations limited the region to an approximate 20 cM interval bordered by DXS1055 and DXS1196/DXS1050. Multipoint analysis generated a lod score >3 for the region contained between DXS8024 and DXS8031. The candidate region includes the Wiskott-Aldrich syndrome (WAS) locus. Evaluation of the Wiskott-Aldrich syndrome protein gene by single strand conformational analysis, heteroduplex analysis, and direct sequencing of the 12 exons in an affected male and two carrier females revealed no abnormalities. We conclude that this kindred has an X-linked disorder, distinct from WAS, that results in autoimmunity and variable immunodeficiency. The responsible locus maps to the pericentromeric region Xp11.23 to Xq21.1.

Differences in toileting habits between children with chronic encopresis, asymptomatic siblings, and asymptomatic nonsiblings.

No studies have compared toileting-specific behaviors of encopretic children with those of asymptomatic children and have controlled for environmental factors such as parental attitudes, parenting styles, and bathroom facilities. This study prospectively examined the toileting habits of 86 chronically encopretic children compared with those of 27 asymptomatic siblings and 35 asymptomatic nonsiblings. Although encopretic children experienced significantly more soiling than did controls, the total number of daily bowel movements passed in the toilet (+/-SD) was comparable in the three groups (.92 +/- .76 in encopretic children compared with 1.14 +/- .43 and 1.08 +/- .47 in siblings and nonsiblings, respectively). Encopretic children experienced pain with defecation more often than did controls. During the 14-day study period, encopretic children complained of pain on 2.75 +/- 4.03 days compared with .58 +/- 1.84 days among sibling controls and 2.31 +/- 3.21 days among nonsibling controls. The mean pain score in encopretic children was .76 +/- 1.00 compared with .05 +/- .15 and .26 +/- .38 among siblings and nonsiblings, respectively. All three groups of children sat on the toilet without parental prompting the same number of times each day. In summary, children with chronic encopresis do not seem to avoid toileting, and they exhibit toileting behaviors that are very similar to those of asymptomatic siblings as well as to those of nonsibling controls.

Alteration of normal gastric flora in neonates receiving ranitidine.

OBJECTIVES: To determine if the administration of ranitidine to neonates leads to an increase in gastric pH to > or = 4 and if this increase in gastric pH correlates with gastric colonization. STUDY DESIGN: 628 pH measurements and 276 gastric cultures were obtained from 86 neonates. Twenty-three patients received ranitidine and 63 patients served as controls. RESULTS: Treated patients had a mean gastric pH of 5.6 compared with a control mean pH of 4.4 (p < 0.0001). Gastric pH was significantly affected by feeding and postnatal age. 54 patients were colonized with pathogenic bacteria and/or yeast (n = 20 treated, n = 34 control). Length of hospitalization (p < 0.0001), increase in gastric pH (p < 0.01), days of antibiotics before culture (p < 0.0001), and ranitidine use (p < 0.0001) were associated with an increased rate of colonization. CONCLUSIONS: The use of ranitidine did lead to a significant increase in gastric pH and with this increase in gastric pH gastric colonization rates increased. No increased frequency of infection was found in ranitidine-treated infants.

Percutaneous endoscopic gastrostomy without an antireflux procedure in neurologically disabled children.

In children with major neurologic impairment, gastrostomies are often used to alleviate malnutrition and feeding difficulties. There has been a trend toward performing "protective" antireflux surgery in these children. Nineteen children with major neurologic impairment and feeding failure were prospectively evaluated and followed up after placement of a percutaneous endoscopic gastrostomy (PEG) without any antireflux procedure. Mean age at PEG placement was 34 months with mean follow-up of 20.7 months. All parents would recommend PEG to families with disabled children, and if given the chance, 95% would elect PEG again for their child. No child developed choking, gagging, or retching postoperatively. At the time of follow-up, postoperative gastroesophageal reflux did not appear to be a major clinical problem.

Long-term follow-up of medically treated childhood constipation.

We describe the long-term (mean 6.8 years) follow-up of 43 children treated medically for chronic constipation and encopresis. Overall outcome was quite good. Thirty children (70%) were entirely asymptomatic at follow-up. Intermittent mild constipation persisted in 13 patients; only two required persistent but infrequent laxative therapy. Encopresis persisted in three of 17 children who initially reported this symptom, and was associated with significant behavioral problems.

Crohn's disease complicating cystic fibrosis.

We report the 10th known case of Crohn's disease associated with cystic fibrosis. Because the symptoms of Crohn's disease may easily be confused with those of cystic fibrosis, this association probably exceeds that predicted by existing prevalence data.

Medium chain triglyceride in the therapy of gastroesophageal reflux.

Carbohydrate solutions that empty rapidly from the stomach have been shown to produce less gastroesophageal reflux (GER) during the postcibal period than more slowly emptying formulas. These observations have not been extended to complete infant formulas containing fat, carbohydrate, and protein constituents. Medium chain triglyceride has been shown to significantly accelerate gastric emptying compared to long chain triglyceride for preterm infants when investigated in commercial infant formulas. Using a previously reported acidified formula model coupled with esophageal pH probe testing, we have documented in a group of 28 infants that modification of formula by enrichment with medium chain triglyceride produced no improvement in rates of GER during the first 2 h after feeding.

Dietary treatment of lactose intolerance in infants and children.

During the past several years there have been many reports of alternative dietary therapies for primary and secondary lactose intolerance. We have learned that it is useful to feed through most episodes of mild diarrhea that previously would have been treated with clear liquid diets. Infant formulas, including both soy-protein and hydrolysate formulas with specially designed carbohydrate, protein, and fat components, are available to treat the infant with diarrheal syndromes and secondary lactase deficiency. Also, the diet can be supplemented with lactase. Specialized lactose-reduced products as well as cultured and fermented dairy products may be used in varying degrees for lactose-intolerant children. The ingestion of milk with food and fiber components in the diet has also been shown to improve symptoms of lactose intolerance. This review summarizes the essentials of diagnosis of and dietary therapy for lactose intolerance. Our findings indicate that a number of specialized formulas and products are available for successful dietary management of lactose intolerance in infants and children.

pH-adjusted formula and gastroesophageal reflux.

To facilitate the detection of postcibal gastroesophageal reflux (GER), we have constructed an infant formula from modular carbohydrate, fat, and protein components with a pH of 4 and a nutrient composition identical to standard infant formula. In comparison to standard infant formula and sugar solutions, this pH-adjusted formula demonstrates a significantly greater amount of gastroesophageal reflex during the first postcibal hour. We speculate that the greater caloric density and slower gastric emptying of regular infant formula promotes greater gastroesophageal reflux than is observed with regular dextrose feedings. This effect is obscured unless the pH of the formula is adjusted. Use of this weakly acid formula in conjunction with postcibal esophageal pH probe recording facilitates the detection and, during simultaneous apnea monitoring, potential association of symptoms with postcibal gastroesophageal reflux.

Hepatobiliary cystadenoma: a rare hepatic tumor in a child.

This report describes a 3-year-old child with a hepatobiliary cystadenoma. Cystadenomas are benign, multilocular, cystic neoplasms that usually occur in middle-aged women. The patients may be asymptomatic, but often there are vague abdominal complaints related to extrinsic compression of the stomach, duodenum, or biliary tree. Recurrence following incomplete excision and the presence of carcinoma within otherwise benign cysts has been documented. Complete resection is the therapy of choice, and thorough histopathologic evaluation is imperative.

Pediatric gastroesophageal reflux disease.

Gastroesophageal reflux is a recognized clinical problem in infancy. To a great extent it represents a normal behavior that improves with maturation. The identification of appropriate candidates for medical and surgical therapy of GER during infancy is difficult and deserves further study. There are few well-conducted clinical trials of therapy for infantile GER that compare the usual drugs used for adults with GER. Moreover, medications currently licensed for adults are often not approved for pediatric use in the United States. Surgical therapy for GER should be reserved for infants with severe disease that does not respond to medical therapy.

Dietary caloric density and osmolality influence gastroesophageal reflux in infants.

In a group of 19 infants being evaluated for gastro-esophageal reflux, we investigated the effects of various carbohydrate solutions (glucose polymers, 5% dextrose in water, and 10% dextrose in water) on the rate of postcibal gastroesophageal reflux during the first 2 h after a test feeding. The high-osmolality feeding (10% dextrose in water) produced significantly more postcibal gastroesophageal reflux over the entire 2-h interval. The major difference occurred in the second postcibal hour when the amount of gastroesophageal reflux was persistently high for 10% dextrose in water in contrast to the other feedings. We speculate that more rapid gastric emptying of low-osmolality solutions may account for these differences. Clear liquid feeding composition should be standardized during pH testing. Low-osmolality glucose polymer solutions may be more easily tolerated by infants with gastro-esophageal reflux who require carbohydrate or fluid supplements.

Characterization of sulfasalazine's interference in the measurement of conjugated bilirubin by the Ektachem slide method.

We describe the cases of four patients who were taking sulfasalazine for inflammatory bowel disease, whose conjugated bilirubin concentrations in serum exceeded their corresponding total bilirubin concentrations as measured with a multilayer film analyzer, the Ektachem 400. Sulfasalazine added to pooled human serum at therapeutic concentrations increased the apparent conjugated bilirubin, as measured with the Ektachem, in a linear and dose-related fashion. Measured unconjugated bilirubin was simultaneously decreased to values less than -3 mg/L. The same interference occurred on the Ektachem 700, but an algorithm prevented the instrument from reporting the results. The major metabolites of sulfasalazine in blood did not interfere with analysis for those fractions of bilirubin. Sulfasalazine's strong absorbance at 400 nm explains its interference with determination of conjugated bilirubin in this instrument.

Intentional ipecac poisoning: Munchausen syndrome by proxy.

The intentional poisoning of two children with ipecac by their mothers is described. Intractable vomiting and diarrhea were the initial symptoms in both patients. In addition, one patient had clinical and laboratory evidence of skeletal and cardiac myopathy. Both children were subjected to extensive and invasive diagnostic evaluations before the correct diagnosis of chronic ipecac poisoning was made. These cases illustrate the toxic effects of ipecac ingestion and serve to alert physicians to child abuse by ipecac poisoning.

Effect of feeding volume on early postcibal gastroesophageal reflux in infants.

Using esophageal pH monitoring, we have investigated the effect of feeding volume on early (1 h) postcibal gastroesophageal reflux (GER) in a population of 50 infants referred for evaluation. Two feedings with the volume of both feedings specified (9 and 18 ml/kg) were given to one group of infants. A second group was given one feeding ad libitum and another specified at 9 ml/kg. Volume of intake was a very significant determinant of both the total duration and the maximum single continuous episode of GER during early postcibal esophageal pH monitoring in both groups by paired analyses. This effect was observed in infants with significant GER (n = 44) and in a subgroup of infants who were normal (n = 6).