title: Study of the bone pathology in early mucolipidosis II (I-cell disease).
abstract: Histological examination of the bones obtained on autopsy of a 5-month-old child with mucolipidosis II (I-cell disease) revealed inhibition of the growth plate calcification with defective vascular invasion and signs of hyperparathyroidism. These findings are the chondro-osseous basis of the early radiological ricket-like appearance of bones in the neonatal period or soon thereafter. Whether the early skeletal abnormalities of mucolipidosis II result from a primary enzymatic defect of cartilage and bone cells or from factors controlling bone metabolism deserves further study.
authors.affiliation: Clinica Ortopedica e Traumatologica dell'Universitá di Pavia, Italy.
authors.forename: U E
authors.initials: UE
authors.lastname: Pazzaglia
authors.forename: G
authors.initials: G
authors.lastname: Beluffi
authors.forename: E
authors.initials: E
authors.lastname: Bianchi
authors.forename: A
authors.initials: A
authors.lastname: Castello
authors.forename: A
authors.initials: A
authors.lastname: Coci
authors.forename: A
authors.initials: A
authors.lastname: Marchi
mesh_terms: D004413:Dysostoses / Q000000981:diagnostic imaging / Q000209:etiology / Q000473:pathology*; D006132:Growth Plate / Q000000981:diagnostic imaging / Q000473:pathology; D006801:Humans; D006961:Hyperparathyroidism / Q000000981:diagnostic imaging / Q000209:etiology / Q000473:pathology; D007223:Infant; D008297:Male; D009081:Mucolipidoses / Q000150:complications / Q000000981:diagnostic imaging / Q000473:pathology*; D011859:Radiography