MR findings of the brain in children and adolescents with portal hypertension and the relationship with blood manganese levels.

BACKGROUND: Few studies have evaluated abnormalities on brain magnetic resonance imaging (MRI) in children and adolescents with chronic liver disease. AIMS: The aim of this study was to investigate the presence of T1 hyperintensity in the basal ganglia of pediatric patients with portal hypertension and its association with blood manganese levels. METHODS: A case control study of 22 patients with portal hypertension (14 Child-Pugh A cirrhosis, 8 non-cirrhotic portal hypertension) and 15 controls was conducted from 2006 to 2007. Blood manganese levels were measured using atomic absorption spectrophotometry. Brain MRI scans were performed using a 1.5 Tesla (Philips) scanner. RESULTS: Blood manganese levels were 26.01+/-12.82 microg/L for patients with portal hypertension (cirrhotic: 22.73+/-11.67 microg/L, non-cirrhotic: 32+/-13.32 microg/L) and 15.64+/-6.61 microg/L for controls (p=0.003). 14/22 patients with portal hypertension presented T1 hyperintensity in the basal ganglia [6/14 cirrhotic; 8/8 non-cirrhotic (p=0.018); zero controls (p=0.001)]. Mean blood manganese levels of patients with liver disease and normal vs. abnormal brain MRI scans were 18.45+/-8.38 microg/L and 30.47+/-13.07 microg/L, respectively (p=0.04). CONCLUSIONS: Brain MRI showed a high frequency (64%) of T1 hyperintensity in the basal ganglia of patients with portal hypertension, which correlated positively with blood manganese levels. This abnormality was found in 100% of the patients with portal hypertension and in 43% of those with mild cirrhotic disease.

Molecular analysis of the Pi*Z allele in patients with liver disease.

Alpha1-antitrypsin (AAT) is the main protease inhibitor in human plasma. There are more than 75 variants of this protein that differ from each other by their isoelectric point. Most of these alleles cause a reduction in AAT levels; the most common allele is Pi*Z. The main complications related to the Pi*Z allele are obstructive pulmonary disease and liver disease. Some Pi*Z allele carriers present cholestatic jaundice and cirrhosis. The Z type is associated with a secretion defect, which leads to deficiency of AAT and to the formation of intrahepatocytic inclusions in affected subjects. The diagnosis of AAT deficiency can be made by different techniques, including molecular analysis, although the final diagnosis should be done in conjunction with demonstration of the periodic acid-Schiff-positive globules on liver biopsy. In this study, specimens of 29 patients with cryptogenic cirrhosis between age 1 month and 18 years, and of 100 controls were submitted to polymerase chain reaction followed by digestion with TaqI enzyme. Five of the 29 patients had undergone liver transplantation. Three patients were heterozygous for the Pi*Z allele, and two were homozygous (allele frequency = 12.07%; 7/58). Among the controls, who represented the population of Porto Alegre, 1 in 100 individuals was heterozygous for the Pi*Z allele, resulting in an allele frequency of 0.5% (1/200). The high frequency of Pi*Z alleles among the patients indicates the usefulness of AAT molecular testing in children with cholestatic jaundice and cirrhosis.

Evoked potentials for the evaluation of latent hepatic encephalopathy in pediatric liver transplant candidates.

BACKGROUND: Visual evoked potentials (VEPs) and brain stem auditory evoked potentials (BAEPs) have been proposed as tools in the diagnosis of subclinical hepatic encephalopathy (HE). However, little information exists to determine their usefulness in pediatric patients. This study was undertaken to evaluate both methods in the detection of subclinical HE in pediatric liver transplant candidates. METHODS: VEPs and BAEPs were recorded in 15 pediatric liver transplant candidates with no clinical signs of HE. The wave latencies found in these examinations were then compared with those in 16 healthy controls of similar age. Laboratory data on liver function and electroencephalographic data from the patients were also recorded to examine their correlation with the evoked potentials results. RESULTS: No differences were found in the BAEP results between patients and controls. However, in the VEPs, the liver transplant candidates had significantly prolonged N1 (N75) latencies when compared with controls; no significant delay was found in the other waves. In contrast, among the children with liver disease, higher BAEP peak latencies correlated positively with electroencephalographic abnormalities, but this correlation was not observed in VEPs. CONCLUSIONS: Evoked potentials might be of use in detecting alterations related to HE in children. However, further studies are necessary to determine their sensitivity and specificity in this situation.

Relationship between nutritional status and histologic findings in small bowel mucosa of children presenting with diarrhoea of more than 14 days' duration.

In order to study the eventual effects of malnutrition on small intestinal mucosa, we evaluated 85 children with diarrhoea of more than 14 days' duration, aged from 4 to 114 months (median 17 months). A proximal small intestinal biopsy was obtained and villus height, crypt depth, mucosal thickness, and total mucosal thickness were measured. Gomez, Waterlow, and Z score criteria were applied. Statistical analyses were performed with the Spearman correlation test and the non-parametrical tests of Wilcoxon, Mann-Whitney, and Kruskal-Wallis. A value of p < 0.05 was considered significant. Average villus height was 269.2 microns (+/- 87.5 microns); crypt depth 113.0 microns (+/- 33.8 microns); mucosal thickness 210.5 microns (+/- 73.2 microns); total mucosal thickness 485.9 microns (+/- 111.8 microns); and villus height/crypt depth ratio 2.5:1 (+/- 0.8:1). Five children had kwashiorkor and 13 had marasmus. Villus height for kwashiorkor children ranged from 151 microns to 353.3 microns (average 286.7 microns), crypt depth from 90.3 microns to 154 microns (average 111.11 microns). According to Gomez criteria, as malnutrition increased, mucosal thickness and the villus/crypt ratio decreased. Waterlow criteria had no relation to mucosal sizes. When distributed in sequential decrease according to their nutritional state, the Z score for weight for age and weight for height indices showed a positive correlation with villus height, total mucosal thickness, and villus/crypt ratio.

Caroli's disease: report of 10 cases in children and adolescents in southern Brazil.

PURPOSE: The aim of this study was to describe the authors' experience with Caroli's disease in children and adolescents. METHODS: The authors reviewed the hospital charts of 10 children and adolescents with Caroli's disease diagnosed between 1968 and 1996. RESULTS: The median age at the onset of symptoms was 5.5 months and the median age at diagnosis was 12 months, both much lower than those reported in the literature. Clinical symptoms were compatible with the classical findings of Caroli's disease, but jaundice and hepatosplenomegaly occurred more frequently. There was an association with congenital renal malformation in eight cases (80%), congenital hepatic fibrosis in five cases, and choledochal cyst in two cases. One case presented the pure form of the disease.

Total and segmental colonic transit time with radio-opaque markers in adolescents with functional constipation.

BACKGROUND: In most instances, constipation is considered idiopathic or functional. The total and segmental colonic transit time, traced by radio- opaque markers, makes possible the identification of the colon segment that has the motility alteration that causes constipation. METHODS: A study was performed of 13 adolescents, aged 12 to 18, with functional chronic constipation and 13 without constipation. In all of them the total and segmental colonic transit times were measured with radio-opaque markers. The adolescents ingested 20 markers each on three successive days, and on the fourth day a plain abdominal radiograph was performed. RESULTS: In the nonconstipated adolescents the total colonic transit time (mean +/- SD) was 30.2 +/- 13.1 hours, in the right colon 5.7 +/- 3.9 hours, in the left colon 7.9 +/- 7.8 hours, and in the rectosigmoid 15.5 +/- 10.6 hours. In the constipated adolescents, the total colonic transit time was 58.3 +/- 17.4 hours, in the right colon 15.9 +/- 12.4 hours, in the left colon 14.7 +/- 13.4 hours, and in the rectosigmoid 17.2 +/- 16.2 hours. There was a statistically significant difference (p < 0.05) in the total colonic transit time, and in both the right and left colon transit times between constipated and nonconstipated adolescents. CONCLUSIONS: The measurement of total and segmental colonic transit times is a simple method that allows one to distinguish constipation due to colonic dysfunction (right colon and left colon) from constipation due to distal obstruction (rectosigmoid).

[Neonatal cholestasis: the delay in referring patients for differential diagnosis]. / Colestase neonatal - atraso no encaminhamento de crianças para diagnóstico diferencial.

OBJECTIVE: An efficient treatment of extrahepatic biliary atresia demands that the diagnostic differentiation between intra- and extrahepatic neonatal cholestasis be performed by the eighth week of life. This study aimed at evaluate the age of the patients admitted to a general hospital for differential diagnosis of cholestatic jaundice. METHODS: Forty nine children from the Pediatric Service at Hospital de Clínicas, in Porto Alegre, have been studied between 1984 and 1991, according to the protocol for diagnostic elucidation followed by this hospital, which includes biliary tract scintigraphy with Tc-99m DISIDA and, depending on its results, an wedge or percutaneous liver biopsy. The ages of the children have been compared on the occasion of the procedures. Twenty six cases have been studied retrospectively and 23, prospectively. RESULTS: Both the patients with intrahepatic and extrahepatic cholestasis underwent scintigraphy, on average at over eight weeks (age 77.94 +/- 42.98 days) and the histopathological study of the liver was performed approximately two weeks after scintigraphy. Only six patients (12.8% of the 47 cases) underwent the liver biopsy before the first eighth week of life. CONCLUSIONS: A delay was observed in referring patients for differential diagnosis of neonatal cholestasis and the performance of tests. The need of hospitalization in order to conduct these procedures delays even further this diagnosis, which should be concluded by the eighth week of life.

[The Steatocrit Test: a semiquantitative method to evaluate the fecal fat excretion--method standardization]. / Esteatócrito: um método semiquantitativo de avaliação de gordura fecal--padronização do teste.

The main objective of this study was to introduce among us this technique. In a first step, steatocrit was compared to Van de Kamer test for 30 fecal samples. A significant positive correlation was found. In a second step, a steatocrit value was determined for normal children aged 0 to 72 months. In children from 0 to 3 months of age, no influence was found of diet (whether exclusively maternal milk or artificial one) on steatocrit value. However, upto the age of 3 months a significant and negative correlation was found between age and steatocrit value. Finally, three age groups were identified with different steatocrit values, as follows: 0-1 month, 4.04%; 1-3 months, 1.38%, 3-72 months, 0.29%. Thus the steatocrit test for fecal fat excretion was again shown to be not only simple, rapid, painless and inexpensive but also a reliable one.

Congenital hepatic fibrosis: a family study.

One family with four of seven siblings with congenital hepatic fibrosis is reported. The proband, the only member of this family with symptoms referable to the disease, was hospitalized because of an upper gastrointestinal hemorrhage. He had a presinusoidal type of portal hypertension. The other three siblings had the latent form of congenital hepatic fibrosis. In the family studied, intravenous pyelography and kidney biopsies showed normal results. This condition is possibly an inherited recessive autosomal disease.