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Alagille Syndrome
Published in Dongyou Liu, Handbook of Tumor Syndromes, 2020
Differential diagnoses for ALGS include other conditions that present with cholestasis (neonates with biliary atresia, sepsis, galactosemia, tyrosinemia, choledochal cyst; patients with progressive familial intrahepatic cholestasis types 1 and 2, arthrogryposis–renal dysfunction–cholestasis syndrome, benign recurrent intrahepatic cholestasis, Norwegian cholestasis [Aagenaes syndrome], benign recurrent intrahepatic cholestasis), interlobular bile duct paucity (patients with alpha-1 antitrypsin deficiency, hypopituitarism, cystic fibrosis, trihydroxycoprostanic acid excess, childhood primary sclerosing cholangitis, mitochondrial disorders, congenital hepatic fibrosis, congenital syphilis, cytomegalovirus, rubella or hepatitis B infection, childhood autoimmune hepatitis, graft-versus-host disease, primary sclerosing cholangitis, Down syndrome, Zellweger syndrome, Ivemark syndrome, and Smith–Lemli–Opitz syndrome), cardiac defects (ventricular septal defect, tetralogy of Fallot), pulmonary stenosis (RAS-MAPK pathway disorders, deletion 22q11 syndrome, Williams syndrome), pulmonic vascular abnormalities (Noonan syndrome, Watson syndrome, William syndrome, Down syndrome, and LEOPARD syndrome), posterior embryotoxon (Rieger syndrome, Bannayan–Riley–Ruvalcaba syndrome, Axenfeld–Rieger syndrome, and 15% of the general population), germline pathogenic variants (Hajdu–Cheney syndrome with pathogenic gain-of-function variant in NOTCH2 exon 34), and somatic pathogenic variants (splenic marginal zone lymphoma with recurrent somatic pathogenic gain-of-function variants in NOTCH2) [1,2].
Comparison of Prenatal and Postmortem Diagnoses from 251 Fetal Autopsies: High Rate of Placenta Pathologies, Low Rate of Discrepancies
Published in Fetal and Pediatric Pathology, 2023
Jan-Theile Suhren, Kais Hussein, Hans Kreipe, Nora Schaumann
Case #2 in our cohort provides another example of how sonography may miss relevant diagnoses in early pregnancy stages. Ivemark syndrome belongs to a heterogeneous group of disorders named heterotaxy syndromes (44). It typically shows asplenia and complex heart defects and may occur in one of 10,000 to 40,000 live births (44). In a previous pregnancy the mother gave birth to a child that developed West syndrome, a condition belonging to a group of neonatal neurological diseases called infantile spasm syndrome, which occur in one of 4,000 live births (45). Since there are no reports of an association between these two syndromes, it must be assumed that fetal pathologies are incidental and not related to a common genetic defect.