Early onset of dysplasia in polyps in children with familial adenomatous polyposis: case report and literature review.

UNLABELLED: Familial adenomatous polyposis (FAP) is one of the most common hereditary syndromes associated with an increased risk of colorectal cancer. Onset of polyp formation and cancer in childhood is very unusual but has recently been associated with a specific mutation at codon 1309 in exon 15 where a more severe phenotype is sometimes observed .We report a 12-year-old girl who presented with haematochezia. The girl's mother and aunt had died of colon cancer which developed from untreated FAP. The other two aunts also had FAP and underwent colectomy. Endoscopy showed extensive polyps presented on the luminal surface of the entire colon. Histomorphology confirmed a low grade of intraepithelial neoplasia (IEN) in three polyps and the patient underwent colectomy. We present a review of the literature focussed on early onset of IEN in polyps in children with FAP. CONCLUSION: Clinicians should take note of the family history and be prepared to consider much earlier intervention if symptoms occur in a child with a family history of FAP.

The role of D-dimer in prediction of the course and outcome in pediatric acute pancreatitis.

BACKGROUND: Current predictive severity scores for pediatric acute pancreatitis are either extrapolated from adult studies or difficult to use in practice. The aim of this study was to assess the value of the plasma D-dimer level as a marker of severity and outcome in pediatric AP. METHODS: 36 patients (aged 1-17 yrs) with AP were included in the study. Levels of D-dimer and other routine laboratory parameters for AP were determined on admission. The Pediatric Acute Pancreatitis Severity Score was used to assess disease severity. The development of systemic and local complications was also recorded. RESULTS: D-dimer level was significantly higher in a group of patients with complications, median 1189.5 (271-4800) vs 172.5 (105-1086) in a group of patients without complications (p < 0.001). D-dimer showed high precision in the prediction of acute necrotic collection, with the optimal cut-off values of 442.5 µg/L, Sensitivity (Sn) 100%, Specificity (Sp) 62.1% and in the prediction of multiple organ failure with optimal cut-off value 1189 µg/L, Sn 100% and Sp 87.5%. According to the areas under the curve (AUCs) of each parameter, D-dimer seemed to have predictive power similar to PAPS score and higher than C-reactive protein and Lactate dehydrogenase level. CONCLUSION: D-dimer level may be a simple clinical predictor of severity in pediatric acute pancreatitis.

Predictive value of hepatic ultrasound, liver biopsy, and duodenal tube test in the diagnosis of extrahepatic biliary atresia in Serbian infants.

BACKGROUND/AIMS: Extrahepatic biliary atresia (EHBA) is the most important cause of neonatal cholestasis. The validity of different diagnostic methods in the diagnosis of EHBA in developed countries has been presented elsewhere, but data from developing countries with low national incomes are scarce. The aim of this study was to investigate the relative accuracy and roles of abdominal ultrasonography, duodenal tube test (DTT), and liver biopsy in the diagnosis of EHBA in Serbia. MATERIALS AND METHODS: The study included 156 infants with cholestasis admitted at the Mother and Child Health Care Institute. Data were collected according to the medical records observation technique. RESULTS: Extrahepatic biliary atresia was diagnosed in 72 of 156 infants with cholestasis. The frequency was insignificantly higher in females than in males (1.25:1). Most patients were diagnosed prior to 60 days of life (median 58, range 30-67). In a group of 156 infants with cholestasis, 109 had ultrasound, liver biopsy, duodenal tube test, and intraoperative cholangiography done. Liver biopsy confirmed surgical disease in 71/109 patients and denied it in 38/109 patients (sensitivity- Sn 98%, specificity- Sp 100%, diagnostic efficiency of test- DgEf 99.08%). Duodenal tube test had Sn 97%, Sp 72%, and DgEf 88.99%, and the ultrasound findings showed Sn 78%, Sp 81%, and DgEf 77.92%. Five-year survival rate after Kasai operation was 76%. CONCLUSION: A well-coordinated multidisciplinary approach is required in the assessment of suspected cases of biliary atresia. Histology examination of biopsy specimens is an integral part of the diagnostic algorithm and, therefore, plays a pivotal role in the diagnostic evaluation of this disease.

Axonal and demyelinating polyneuropathy associated with celiac disease.

BACKGROUND: The involvement of the peripheral nervous system in children with celiac disease is rare. CASE CHARACTERISTICS: A 15- year- old girl affected by celiac disease, who presented with an acute polyneuropathy after accidental reintroduction of gluten in her diet. OBSERVATION: Neurological examination suggested asymmetric weakness of both legs distally. Anti-tissue transglutaminase antibodies were positive. Nerve conduction studies were consistent with a sensory-motor demyelinating peripheral neuropathy. OUTCOME: Symptoms improved spontaneously on a gluten-free diet. MESSAGE: Polyneuropathy may occur as a complication of celiac disease in childhood.

Predictability of gastroesophageal caustic injury from clinical findings: is endoscopy mandatory in children?

INTRODUCTION: The aim of this study was to present our patients with corrosive ingestion retrospectively, to analyze the validity of clinical signs as predictors of outcome, and to emphasize the necessity of esophagogastroduodenoscopy. MATERIALS AND METHODS: Data were evaluated from the medical records of patients admitted at the Mother and Child Health Care Institute, Serbia over a 10-year period. RESULTS: A total of 176 children, mean age 36.2 ± 18.1 months (range 9 months to 18 years), with corrosive ingestion were evaluated. The ingested substances were alkali in 96 cases (54.5%), acid in 41 (23.3%), and others in 39 cases (22.1%). In all, 116 patients (65.9%) were symptom free on admission. Positive clinical findings were observed in 60 (34.1%) patients. Upper endoscopy was performed in all children within the first 48 h. Ninety-five patients (54%) had normal endoscopic evaluation, 54 (30.6%) had mild lesions, and 27 (15.3%) had severe corrosive injuries. The validity of clinical findings in predicting the severity of esophageal and gastric injury was as follows: sensitivity - 74 and 75% and specificity - 73 and 68%, retrospectively. Eighteen patients (10.2%) developed esophageal stricture. CONCLUSION: Endoscopy is a mandatory technique in children with gastroesophageal caustic injuries, and should be performed to prevent unnecessary hospitalization and to plan future treatment. This study emphasizes that clinical signs and symptoms are not predictors of esophageal and gastric injury and that the absence of any clinical findings does not rule out a severe esophageal or gastric injury.

Primary Budd-Chiari syndrome in a 3-year-old boy with homozygous factor V Leiden G1691A mutation.

UNLABELLED: Budd-Chiari syndrome (BCS) is an uncommon disorder characterized by obstruction of hepatic venous outflow. The primary BCS is a rare disease with an incidence about 0.2 per million inhabitants per year. We present a 3-year-old boy with intrahepatic inferior vena cava clot. Because of decreased levels of protein C (38.7 %), F II (69.1 %), and activated protein C resistance (1.43), a mutational gene analysis was performed. The patient was found to be homozygous for the FV G1691A mutation. CONCLUSION: The primary BCS is a rare disease especially in childhood. Activated protein C resistance caused by the factor V Leiden mutation may be responsible for primary BCS. Prompt recognition of underlying prothrombotic disease and early initiation of their specific therapy might translate into rapid improvement of liver disease.

[Sample representativeness and incidence of liver biopsy complications caused by needles of bigger diameter (1.6 mm) and smaller diameter (1.2 mm) in children with cholestatic syndrome].

INTRODUCTION: Percutaneous liver biopsy and histomorphological analysis of liver tissue is an important diagnostic procedure in the investigation of neonates and infants with cholestatic syndrome. This study has been aimed at determining whether there is a difference in the incidence of complications after liver biopsy performed by Menghini technique using a needle of 1.6 mm as compared to 1.2 mm diameter and if there is a difference in the sample representativeness of liver tissue after liver biopsy with those two different needle diameters. MATERIAL AND METHODS: We retrospectively reviewed medical records of 156 neonates and infants with chronic cholestatic syndrome, hospitalized at Mother and Child Health Care Institute, Serbia. RESULTS: One hundred and fifty six children underwent liver biopsy. There was no difference in frequency of liver biopsy complications performed by Menghini technique using a larger diameter needle (1.6 mm) as compared to 1.2 mm diameter. The mortality after liver biopsy was 0% while the frequency of complications with a needle of 1.6 mm in diameter was 3.8% the percentage of serious complications being 0.6%. Among the samples of liver biopsy taken by a larger diameter needle (1.6 mm), 108/109 were representative samples (> 5 portal areas), and among those taken by a smaller diameter needle (1.2 mm), 34/47 were representative samples. Of 109 liver biopsy specimens obtained by Menghini technique using a needle of larger diameter (1.6 mm), 109/109 were representative samples (> 3 portal areas), and when a smaller diameter needle (1.2 mm) was used, 42/47 were representative samples. CONCLUSION: Our results indicate that the sample representativeness was significantly higher when a larger diameter needle was used for liver biopsy by Menghini technique; however, no difference in the incidence of complications was observed.

Twelve-year-old girl with primary biliary cirrhosis.

Primary biliary cirrhosis (PBC) is a slowly progressive cholestatic liver disease of autoimmune etiology. The initial presentation of PBC is varies from asymptomatic, abnormal liver biochemical tests to overt cirrhosis. Unlike other autoimmune liver diseases, PBC has rarely been reported in childhood. We report a case of primary biliary cirrhosis in a 12-year-old girl. In addition to characteristic histology features, strongly positive antimitochondrial antibodies, increased liver enzyme levels, increased serum quantitative immunoglobulin M levels, and cholestasis were discovered. She had been treated with ursodeoxycholic acid. In the world literature, we found only few pediatric patients of primary biliary cirrhosis. Aetiology, pathogenesis, the long-term natural history, and prognosis remain obscure. Due to increased awareness of early-onset PBC, rather than typical older ones, further pediatric cases may be discovered.

Cardiomyopathy associated with celiac disease in childhood.

Celiac disease is predominantly a disease of the small intestine characterized by chronic malabsorption in genetically susceptible individuals who ingest grains containing gluten, such as wheat, barley, and rye. Although previously believed to be uncommon, celiac disease may be present in up to 1% of the adult and children population. Celiac disease is associated frequently with iron-deficiency anemia, dermatitis herpetiformis, selective IgA deficiency, thyroid disorders, diabetes mellitus, and various connective tissue disorders but is rarely associated with cardiomyopathy.

Alpha-1-antitrypsin deficiency in early childhood.

Alpha-1-antitrypsin deficiency (AATD), which predisposes liver disease in children, is often undiagnosed. Isoelectric focusing in 161 infants with liver dysfunction revealed 14.7% severe and 12.2% moderate AATD. Positive PAS-D and immunohistochemical staining was found in 60% of severe AATD, but in moderate AATD, only immunohistochemistry was positive in 100%. Bilirubinostasis, hepatomegaly, splenomegaly, cholestasis, hepatomegaly associated with cholestasis, acholia, high transaminases, and low birthweight were significantly more frequent in severe than in moderate AATD. Both AATDs showed significant portal inflammation, hepatic fibrosis, and viral infection. Early screening in children with liver dysfunction can contribute to the successful detection of AATD.

[A histologic variant of autoimmune hepatitis with zonal necrosis]. / Histoloska varijanta autoimunskog hepatitisa sa zonskom nekrozom.

Autoimmune hepatitis type 1 in a 8-year old girl is described. The diagnosis was established using International Autoimmune hepatitis group scoring system. In addition to characteristic histologic features of autoimmune hepatitis (periportal hepatitis, piecemeal necrosis and rozettes) prominent centrilobular necrosis was discovered. As an isolate finding in autoimmune hepatitis, this type was described only in five cases. In our unique case centrilobular necrosis is a very important parallel finding previously not detected in autoimmune hepatitis. Some experimental studies suggest that cytocins present in inflammatory cell infiltrate in the liver play a pathologic role in autoimmune liver cell damage.

[Corticoid-sensitive nephrotic syndrome in children with myelodysplastic syndromes]. / Kortikosteroid-senzitivni nefrotski sindrom kod dece sa sindromom mijelodisplazije.

Several reports have documented various forms of glomerular diseases in adults with myelodysplastic syndromes (MDS), but similar reports in children are lacking. We describe two children with MDS-associated with steroid-responsive nephrotic syndrome (NS). Patient 1, who had MDS with myelofibrosis, presented also hepatosplenomegaly, pancytopenia, chronic hepatitis, moderate proteinuria, hypocomplementamia and elevated ANA titer. During initial prednisone treatment proteinuria markedly diminished and partial but transient haematological improvement occurred. Relapse subsequently occurred that was manifested by overt NS and pancytopenia. High doses of prednisolone led to remission of the renal disease but haematological remission did not occur. Persisting pancytopenia and repeated infections terminated in sepsis, two years after the onset of MDS. Patient 2, who had refractory anaemia with clonal monosomy 19, manifested bowel disease, hepatosplenomegaly, anaemia and non-organic specific autoantibodies. Prednisone led to both clinical and haematological remission. Haematologic disease relapsed 12 months later, when nephrotic-range proteinuria, haematuria and mild azotaemia were also found. Corticosteroid treatment led to long-lasting renal and haematologic remission, maintained by a small dosage of prednisone. In both patients, renal biopsy findings were consistent with those seen in idiopathic NS. A Medline search disclosed 16 cases of glomerulopathy in the course of MDS in adult patients. Clinical features included NS, usually accompanied by renal insufficiency with either acute, chronic, or rapidly progressive glomerulonephritis. On biopsy, membranous nephropathy, crescentic or mesangial proliferative glomerulonephritis and AL amyloidosis, were found. We conclude: (1) that glomerular disease may be present and should be searched for in patients with MDS; (2) that MDS can be added to the list of rare conditions associated with corticosteroid-responsive NS in children.