title: Neonatal mucolipidosis 2. The spontaneous evolution of early bone lesions and the effect of vitamin D treatment. Report of two cases.
abstract: Evolution of the early bone lesions in two children with mucolipidosis 2 was followed from birth. The progression of the bone changes did not differ from healing of rickets. Low levels of 1,25-(OH)2-D3 were found in one child and he was treated with vitamin D; resolution of the rachitic changes was more rapid than in the untreated child. It is suggested that in mucolipidosis 2 bone reacts to two independent factors, one controlling calcium metabolism, the other depending on the primary lysosomal enzyme defect. Since ricket-like features are not present in the other mucolipidoses or mucopolysaccharidoses, the defect of calcium metabolism seems to be related to the specific enzyme defect of mucolipidosis 2.
authors.affiliation: Clinica Ortopedica dell'Università di Pavia, Italy.
authors.forename: U E
authors.initials: UE
authors.lastname: Pazzaglia
authors.forename: G
authors.initials: G
authors.lastname: Beluffi
authors.forename: C
authors.initials: C
authors.lastname: Danesino
authors.forename: P V
authors.initials: PV
authors.lastname: Frediani
authors.forename: G
authors.initials: G
authors.lastname: Pagani
authors.forename: G
authors.initials: G
authors.lastname: Zatti
mesh_terms: D000375:Aging / Q000378:metabolism; D001851:Bone Diseases, Metabolic / Q000151:congenital / Q000000981:diagnostic imaging; D001842:Bone and Bones / Q000000981:diagnostic imaging* / Q000378:metabolism; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D009081:Mucolipidoses / Q000150:complications / Q000000981:diagnostic imaging / Q000188:drug therapy*; D010024:Osteoporosis / Q000000981:diagnostic imaging / Q000209:etiology; D011859:Radiography; D014807:Vitamin D / Q000627:therapeutic use*
chemical_list: D014807:Vitamin D