Case report: An infantile lethal form of Albright hereditary osteodystrophy due to a mutation.

Germline loss-of-function mutations are associated with multiple phenotypes, depending on the parental origin of the mutant allele. Here, we describe an infantile lethal form of atypical pseudohypoparathyroidism type 1a or 1c with severe Albright's hereditary osteodystrophy phenotype, underlying the extremely variable expressivity of this syndrome.

Outcomes of surgical management of familial intrahepatic cholestasis 1 and bile salt export protein deficiencies.

Progressive familial intrahepatic cholestasis (PFIC) with normal circulating gamma-glutamyl transpeptidase levels can result from mutations in the gene (encoding familial intrahepatic cholestasis 1 [FIC1] deficiency) or the gene (bile salt export protein [BSEP] deficiency). We investigated the outcomes of partial external biliary diversion, ileal exclusion, and liver transplantation in these two conditions. We conducted a retrospective multicenter study of 42 patients with FIC1 deficiency (FIC1 patients) and 60 patients with BSEP deficiency (BSEP patients) who had undergone one or more surgical procedures (57 diversions, 6 exclusions, and 57 transplants).

Evaluation of the Explorer Endoscopy Mask(©) for esogastroduodenoscopy in children: a retrospective study of 173 cases.

Aims: The aim of this study was to evaluate the usability and safety of the Explorer Endoscopy Mask(®) (EM) as an alternative to endotracheal intubation in children undergoing elective esogastroduodenoscopy (EGD) under general anesthesia (GA).

Methods: This study was a retrospective observational study. The study was undertaken at the pediatric digestive endoscopy suite in the Cliniques universitaires Saint-Luc, Brussels, Belgium.

Clinical Parameters vs Cytokine Profiles as Predictive Markers of IgE-Mediated Allergy in Young Children.

Background: Allergy afflicts one third of children, negatively impacting their quality of life and generating a significant socio-economic burden. To this day, this disorder remains difficult to diagnose early in young patients, with no predictive test available.

Objective: This study was designed to correlate cytokine profiles with clinical phenotypes of allergy development.

Clinical variability in neurohepatic syndrome due to combined mitochondrial DNA depletion and Gaucher disease.

A 1-year-old girl born to consanguineous parents presented with unexplained liver failure, leading to transplantation at 19 months. Subsequent partial splenectomy for persistent cytopenia showed the presence of foamy cells, and Gaucher disease was confirmed by homozygosity for the p.Leu483Pro mutation in the gene.

Assessment of risk of bleeding from esophageal varices during management of biliary atresia in children.

Objectives: The management of esophageal varices (EV) in children experiencing biliary atresia (BA) remains controversial. Recent studies in children proposed initiating a prophylactic treatment in patients with severe (grade III) EV and/or EV associated with red color signs. Our study was aimed at assessing the risk of bleeding from EV in a series of patients with BA, identifying risk factors for bleeding to develop a predictive model of bleeding.

Post-serial transverse enteroplasty bowel redilatation treated by longitudinal intestinal lengthening and tailoring procedure.

The serial transverse enteroplasty (STEP) is a safe and successful procedure to lengthen the small bowel. Several patients develop postoperative bowel redilatation with loss of bowel adaptation. We describe a 2-month-old male infant with short bowel syndrome who developed dilatation of the lengthened segment after STEP, which was successfully treated by a longitudinal intestinal lengthening and tailoring procedure.

Differences in presentation and progression between severe FIC1 and BSEP deficiencies.

Background & Aims: Progressive familial intrahepatic cholestasis (PFIC) with normal serum levels of gamma-glutamyltranspeptidase can result from mutations in ATP8B1 (encoding familial intrahepatic cholestasis 1 [FIC1]) or ABCB11 (encoding bile salt export pump [BSEP]). We evaluated clinical and laboratory features of disease in patients diagnosed with PFIC, who carried mutations in ATP8B1 (FIC1 deficiency) or ABCB11 (BSEP deficiency). Our goal was to identify features that distinguish presentation and course of these two disorders, thus facilitating diagnosis and elucidating the differing consequences of ATP8B1 and ABCB11 mutations.