Internal Ileal Diversion as Treatment for Progressive Familial Intrahepatic Cholestasis Type 1-Associated Graft Inflammation and Steatosis after Liver Transplantation.

Background: Progressive Familial Intrahepatic cholestasis type I (PFIC1) is a rare congenital hepatopathy causing cholestasis with progressive liver disease. Surgical interruption of the enterohepatic circulation, e.g.

Stereotactic radiofrequency ablation of a variety of liver masses in children.

Background And Aims: Surgical resection is currently the cornerstone of liver tumor treatment in children. In adults radiofrequency ablation (RFA) is an established minimally invasive treatment option for small focal liver tumors. Multiprobe stereotactic RFA (SRFA) with intraoperative image fusion to confirm ablation margins allows treatment for large lesions.

Co-existence of ABCB11 and DCDC2 disease: Infantile cholestasis requires both next-generation sequencing and clinical-histopathologic correlation.

A boy exhibiting conjugated hyperbilirubinemia from birth, with elevated serum gamma-glutamyl transpeptidase activity (GGT), developed liver failure unusually early (7mo); GGT concomitantly normalized. ABCB4 disease was suspected, but no ABCB4 lesion was found. The boy was instead homozygous for ABCB11 variant c.

Biallelic IARS Mutations Cause Growth Retardation with Prenatal Onset, Intellectual Disability, Muscular Hypotonia, and Infantile Hepatopathy.

tRNA synthetase deficiencies are a growing group of genetic diseases associated with tissue-specific, mostly neurological, phenotypes. In cattle, cytosolic isoleucyl-tRNA synthetase (IARS) missense mutations cause hereditary weak calf syndrome. Exome sequencing in three unrelated individuals with severe prenatal-onset growth retardation, intellectual disability, and muscular hypotonia revealed biallelic mutations in IARS.

A novel therapeutic approach for LPIN1 mutation-associated rhabdomyolysis--The Austrian experience.

Introduction: Lipin 1 gene (LPIN1) mutations lead to cellular energy deficiency and cause up to 50% of the rhabdomyolysis episodes seen in pediatric patients. These episodes are associated with poor prognosis, as treatment options have been limited. We propose a novel therapeutic strategy based on prevention and early treatment of catabolism.

Effectiveness and safety of ferric carboxymaltose treatment in children and adolescents with inflammatory bowel disease and other gastrointestinal diseases.

Background: The treatment of iron deficiency anemia in children with inflammatory bowel disease is a particular challenge and often insufficient. Absorption of orally given iron may be impaired by intestinal inflammation and treatment with oral iron may aggravate intestinal inflammation. This retrospective study is the first to describe the use of intravenous ferric carboxymaltose (FCM) in the pediatric setting.

Intestinal microvascular malformations and congenital asplenia in an adolescent possibly expanding the phenotype of Ivemark syndrome.

Intestinal vascular malformations in children and adolescents are rare but must be considered in the differential diagnosis of gastrointestinal bleeding and chronic anemia. We report a 16-year-old girl who developed chronic iron-deficiency anemia due to recurrent bleeding from multiple angiodysplastic lesions of the stomach, duodenum, and jejunum. The cause of blood loss remained unclear for several years while the girl received numerous blood transfusions.

Early onset systemic lupus erythematosus: differential diagnoses, clinical presentation, and treatment options.

Juvenile systemic lupus erythematosus is a rare multisystemic autoimmune disease with variable clinical manifestations, and disease onset before 16 years of age. Patients younger than 5 years are rarely affected and the age of onset may contribute to the course of disease in terms of clinical presentation, organ involvement, and serological findings. Here, we report two exemplary early-onset SLE patients, a 28-month-old patient with WHO class IIB kidney disease, arthritis, and a typical antibody constellation and an 11-month-old infant that presented with microcytic anemia, leukocytosis, arthritis, fasciitis, fatty liver disease, protein losing enteropathy, edema, and minimal change glomerulonephritis.