title: Steatosis associated with immotile cilia syndrome: an unrecognized relationship?
abstract: The present study deals with a case of hepatic parenchymal steatosis in a child with primary ciliary dyskinesia (immotile cilia syndrome) well documented by functional and ultrastructural evaluation of the ciliary epithelia. Hepatic steatosis was associated with ultrastructural evidence of retention of material either in the cisternae of the endoplasmic reticulum or in proximity of the Golgi apparatus of hepatocytes. It is suggested that the absence of dynein in the axoneme is probably part of a diffuse genetic defect which may extend to cytoplasmic, non axonemal, dynein and lead to a disturbance of various microtubule-dependent cell activities.
authors.affiliation: Clinica di Gastroenterologia, Università di Ancona, Italy.
authors.forename: F
authors.initials: F
authors.lastname: Paolucci
authors.forename: S
authors.initials: S
authors.lastname: Cinti
authors.forename: A
authors.initials: A
authors.lastname: Cangiotti
authors.forename: N
authors.initials: N
authors.lastname: Oggiano
authors.forename: P L
authors.initials: PL
authors.lastname: Giorgi
authors.forename: R
authors.initials: R
authors.lastname: Mancini
authors.forename: A M
authors.initials: AM
authors.lastname: Jezequel
authors.forename: F
authors.initials: F
authors.lastname: Orlandi
mesh_terms: D001707:Biopsy, Needle; D001980:Bronchi / Q000473:pathology / Q000648:ultrastructure; D002648:Child; D002923:Cilia / Q000648:ultrastructure*; D002925:Ciliary Motility Disorders / Q000150:complications* / Q000473:pathology; D003094:Collagen / Q000032:analysis; D005234:Fatty Liver / Q000150:complications* / Q000473:pathology; D005260:Female; D006801:Humans; D008099:Liver / Q000473:pathology* / Q000648:ultrastructure; D008854:Microscopy, Electron; D009092:Mucous Membrane / Q000473:pathology / Q000648:ultrastructure; D009297:Nasal Mucosa / Q000473:pathology* / Q000648:ultrastructure; D014617:Vacuoles / Q000648:ultrastructure
chemical_list: D003094:Collagen