SYMPTOMATIC CHOLELITHIASIS AS THE PRESENTATION OF PEDIATRIC PRIMARY SCLEROSING CHOLANGITIS - CASE SERIES AND LITERATURE REVIEW.

Background: Primary sclerosing cholangitis (PSC) is a rare hepatobiliary disorder, whose etiology remains not fully elucidated. Given how rare PSC is in childhood, until the recent publication of a multicenter international collaboration, even data on its characteristics and natural history were scarce. Symptomatic cholelithiasis has not been previously reported as the presentation of PSC.

LONG TERM MANAGEMENT OF GLYCOGEN STORAGE DISEASE TYPE 1B: A BRAZILIAN TERTIARY CENTER EXPERIENCE.

Background: Glycogen storage disease (GSD) type 1b is a multisystemic disease in which immune and infectious complications are present, in addition to the well-known metabolic manifestations of GSD. Treatment with granulocyte-colony stimulating factor (G-CSF) is often indicated in the management of neutropenia and inflammatory bowel disease.

Objective: To report on the demographics, genotype, clinical presentation, management, and complications of pediatric patients with glycogen storage disease type 1b (GSD 1b), with special attention to immune-related complications.

ANTHROPOMETRIC AND DIETARY ASSESSMENT OF PATIENTS WITH GLYCOGENOSIS TYPE I.

Objective: To perform anthropometric and dietary evaluation of patients with glycogenosis type Ia and Ib.

Methods: This cross-sectional study is composed of a sample of 11 patients with glycogenosis divided into two subgroups according to the classification of glycogenosis (type Ia=5 and type Ib=6), aged between 4 and 20 years. The analyzed anthropometric variables were weight, height, body mass index, and measures of lean and fat body mass, which were compared with reference values.

PRE AND POST-OPERATIVE OTORHINOLARYNGOLOGY SURGERY CARE IN PATIENTS WITH GLYCOGEN STORAGE DISEASE TYPE 1.

Objective: To discuss aspects of pre and post-operative otorhinolaryngology surgery in patients with glycogen storage disease type 1b.

Case Description: Description of three clinical cases with probable glycogen storage disease type 1b who underwent otorhinolaryngology surgery, showing the importance of multidisciplinary interaction to avoid episodes of hypoglycemia.

Comments: Patients with glycogen storage disease type 1b present recurrent infections, including the otorhinolaryngology affections.

IMPORTANCE OF LIVER BIOPSY IN THE DIAGNOSIS OF LYSOSOMAL ACID LIPASE DEFICIENCY: A CASE REPORT.

Objective: To describe a case of cholesteryl ester storage disease (CESD) and discuss the importance of liver biopsy for diagnosis.

Case Description: A female patient, aged two years and ten months, presented with an increased abdominal volume following hepatomegaly for four months. Abdominal ultrasound demonstrated hepatomegaly and hepatic steatosis.

Determining mutations in G6PC and SLC37A4 genes in a sample of Brazilian patients with glycogen storage disease types Ia and Ib.

Glycogen storage disease (GSD) comprises a group of autosomal recessive disorders characterized by deficiency of the enzymes that regulate the synthesis or degradation of glycogen. Types Ia and Ib are the most prevalent; while the former is caused by deficiency of glucose-6-phosphatase (G6Pase), the latter is associated with impaired glucose-6-phosphate transporter, where the catalytic unit of G6Pase is located. Over 85 mutations have been reported since the cloning of G6PC and SLC37A4 genes.

Biliary atresia: the Brazilian experience.

Objective: To evaluate epidemiological, clinical and prognostic characteristics of children with biliary atresia.

Methods: Data regarding portoenterostomy, liver transplantation (LTx), age at last follow-up and survival were collected from the records of patients followed up in six Brazilian centers (1982-2008) and compared regarding decades of surgery.

Results: Of 513 patients, 76.

Antibody titers and response to vaccination against hepatitis A and B in pediatric patients with portal hypertension.

In Brazil, approximately 130 new cases of hepatitis A per 100,000 inhabitants occur annually and 15% of the population has been in contact with hepatitis B virus. Portal hypertension causes hypersplenism and reduces T cell production, which may lead to less effective response to hepatitis vaccination. The objective of the study was to evaluate the response to hepatitis A and B vaccination in patients with portal hypertension secondary to chronic liver disease or portal vein thrombosis.

Partial internal biliary diversion through a cholecystojejunocolonic anastomosis--a novel surgical approach for patients with progressive familial intrahepatic cholestasis: a preliminary report.

Background/purpose: The purpose of the study was to describe the initial experience with a novel approach to the surgical treatment of progressive familial intrahepatic cholestasis (PFIC), avoiding the creation of a permanent stoma.

Methods: Two teenaged patients, aged 15 and 17 years, underwent partial internal biliary diversion to treat uncontrollable pruritus associated with PFIC. The surgical technique involved the creation of an isolated jejunal conduit, anastomosed proximally in a terminolateral fashion to the gallbladder and distally to the ascending colon.

Clinical and biochemical features of autoimmune hepatitis in 36 pediatric patients.

Background: Few studies on autoimmune hepatitis have enrolled non-Caucasian groups.

Aims: To evaluate Brazilian children with type 1 and 2 autoimmune hepatitis regarding outcome and clinical and biochemical parameters.

Patients And Methods: Thirty-six patients were submitted to a protocol that evaluated the clinical history, physical and biochemical data, and the course of the disease.

Paucity of intrahepatic bile ducts in infancy--experience of a tertiary center.

Background: Intrahepatic cholestasis secondary to paucity of bile duct is an alteration of the anatomic integrity of the biliary tract. Can be defined only histologically and, clinically, two categories are recognized: syndromic and non-syndromic, where the prognosis is generally more severe.

Aim: To evaluate the history, clinical and biochemical characteristics, etiology and improvement of children who have paucity of intrahepatic bile duct followed at tertiary center.

Caroli's disease: 6 case studies.

Caroll's disease is characterized by congenital non-obstructive dilatation of the intrahepatic bile ducts of undefined etiology. It is a rare disease usually affecting the whole liver but it may affect a lobe or a segment (11). This study shows the evolution of 6 cases (2 boys and 4 giris) that were diagnosed with Caroli's disease at a referral service.