Craniosynostosis as a cause of intracranial hypertension in Alagille syndrome: a case series of 6 consecutive pediatric patients.

Objective: Craniosynostoses are an underrecognized cause of intracranial hypertension (ICH), especially when associated with congenital syndromes. Alagille syndrome (ALGS) is a multisystem disorder with typical facial features and hepatobiliary, cardiac, vascular, skeletal, and ocular manifestations. The occurrence of craniosynostosis in ALGS is rare and can be associated with chronic ICH, requiring craniofacial surgery to increase the intracranial volume.

Disrupted BMP-9 Signaling Impairs Pulmonary Vascular Integrity in Hepatopulmonary Syndrome.

Hepatopulmonary syndrome (HPS) is a severe complication of liver diseases characterized by abnormal dilation of pulmonary vessels, resulting in impaired oxygenation. Recent research highlights the pivotal role of liver-produced BMP-9 (bone morphogenetic protein-9) in maintaining pulmonary vascular integrity. This study aimed to investigate the involvement of BMP-9 in human and experimental HPS.

∆-3-oxo-5β-reductase deficiency: favorable outcome in 16 patients treated with cholic acid.

Background: Oral cholic acid therapy is an effective therapy in children with primary bile acid synthesis deficiencies. Most reported patients with this treatment have 3β-hydroxy-Δ-C-steroid oxidoreductase deficiency. The aim of the study was the evaluation of cholic acid therapy in a cohort of patients with the rarer Δ-3-oxosteroid 5β-reductase (Δ-3-oxo-R) deficiency.

Outcomes of 38 patients with PFIC3: Impact of genotype and of response to ursodeoxycholic acid therapy.

Background & Aims: Progressive familial intrahepatic cholestasis type 3 (PFIC3) is a rare liver disease caused by biallelic variations in . Data reporting on the impact of genotype and of response to ursodeoxycholic acid (UDCA) therapy on long-term outcomes are scarce.

Methods: We retrospectively describe a cohort of 38 patients with PFIC3 with a median age at last follow-up of 19.

Prognosis of Children Undergoing Liver Transplantation: A 30-Year European Study.

Objectives: The European Liver Transplant Registry has been collecting data on virtually all pediatric liver transplant (PLT) procedures in Europe since 1968. We analyzed patient outcome over time and identified parameters associated with long-term patient outcome.

Methods: Participating centers and European organ-sharing organizations provided retrospective data to the European Liver Transplant Registry.

ATP7B variant spectrum in a French pediatric Wilson disease cohort.

Background/aim: The spectrum of ATP7B variants varies significantly according to geographic distribution, and there is insufficient data on the variants observed in the French population.

Methods: Clinical data of 113 children included in the French WD national registry were gathered from March 01, 1995 to July 01, 2020. Data included epidemiological, clinical, laboratory, genetics.

Pediatric Wilson's Disease: Phenotypic, Genetic Characterization and Outcome of 182 Children in France.

Objectives: To describe a cohort of Wilson disease (WD) pediatric cases, and to point out the diagnostic particularities of this age group and the long-term outcome.

Methods: Clinical data of 182 pediatric patients included in the French WD national registry from 01/03/1995 to 01/06/2019 were gathered.

Results: Diagnosis of WD was made at a mean age of 10.

International clinical guidelines for the management of phosphomannomutase 2-congenital disorders of glycosylation: Diagnosis, treatment and follow up.

Phosphomannomutase 2 (PMM2-CDG) is the most common congenital disorder of N-glycosylation and is caused by a deficient PMM2 activity. The clinical presentation and the onset of PMM2-CDG vary among affected individuals ranging from a severe antenatal presentation with multisystem involvement to mild adulthood presentation limited to minor neurological involvement. Management of affected patients requires a multidisciplinary approach.

CCDC115-CDG: A new rare and misleading inherited cause of liver disease.

Congenital disorders of glycosylation (CDG) linked to defects in Golgi apparatus homeostasis constitute an increasing part of these rare inherited diseases. Among them, COG-CDG, ATP6V0A2-CDG, TMEM199-CDG and CCDC115-CDG have been shown to disturb Golgi vesicular trafficking and/or lumen pH acidification. Here, we report 3 new unrelated cases of CCDC115-CDG with emphasis on diagnosis difficulties related to strong phenotypic similarities with mitochondriopathies, Niemann-Pick disease C and Wilson Disease.