title: Distribution of myofibroblastic cells in the liver and kidney of Meckel-Gruber syndrome.
abstract: Meckel-Gruber syndrome (MGS) is a rare disorder characterized by occipital encephalocele, polydactyly and polycystic kidney. Early diagnosis is very important because MGS has a high risk of recurrence and infants with MGS are frequently stillborn or die soon after birth. An autopsy case of MGS is presented and the focus is specifically on the myofibroblastic cells of the liver and polycystic kidney. Although routine histological examination did not reveal hepatic fibrosis, a specific distribution of alpha smooth muscle actin (alpha-SMA)-positive and h-caldesmon (h-CD)-negative stromal cells (myofibroblastic cells) was observed along the limiting plate of the portal area. Furthermore, myofibroblastic cells were focally distributed along the sinusoidal wall and around the bile ducts in the portal area. In the polycystic kidney, the presence of myofibroblastic cells in the stroma between the cystic lesions was also confirmed by electron microscopy. In conclusion, myofibroblastic cells were distributed in the liver and kidney of a patient with MGS and their specific distribution in the liver may be indicative of prestage hepatic fibrosis.
authors.affiliation: Department of Pathology, Kochi Medical School, Kochi, Japan. nkuroda@kochi-ms.ac.jp
authors.forename: Naoto
authors.initials: N
authors.lastname: Kuroda
authors.forename: Yoshihito
authors.initials: Y
authors.lastname: Ishiura
authors.forename: Masaaki
authors.initials: M
authors.lastname: Kawashima
authors.forename: Eriko
authors.initials: E
authors.lastname: Miyazaki
authors.forename: Yoshihiro
authors.initials: Y
authors.lastname: Hayashi
authors.forename: Hideaki
authors.initials: H
authors.lastname: Enzan
mesh_terms: D000015:Abnormalities, Multiple / Q000378:metabolism / Q000473:pathology*; D000199:Actins / Q000378:metabolism; D000328:Adult; D015415:Biomarkers / Q000378:metabolism; D002148:Calmodulin-Binding Proteins / Q000378:metabolism; D017809:Fatal Outcome; D005260:Female; D005347:Fibroblasts / Q000378:metabolism / Q000648:ultrastructure*; D006801:Humans; D007231:Infant, Newborn; D007668:Kidney / Q000002:abnormalities* / Q000378:metabolism; D052177:Kidney Diseases, Cystic / Q000378:metabolism / Q000473:pathology; D008099:Liver / Q000002:abnormalities* / Q000378:metabolism; D008297:Male; D009130:Muscle, Smooth / Q000378:metabolism / Q000648:ultrastructure*; D017689:Polydactyly / Q000473:pathology*; D011247:Pregnancy
chemical_list: D000199:Actins; D015415:Biomarkers; D002148:Calmodulin-Binding Proteins