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.
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References
Cipolloni C, Boldrini A, Donti E, Coppa GV (1980) Neonatal mucolipidosis II (I-cell disease): clinical, radiological and biochemical studies in a case. Helv Paediatr Acta 35: 85
Iannacone G, Capotorti L (1969) Contribution au syndrome dit “Pseudo-Hurler”. Observations de deux soeurs avec altérations osseuses particulièrment sévères. Ann Radiol (Paris) 12: 355
Joannard A, Bost M, Pont J, Dieterlen M, Frappat P, Beaudoing A (1976) La mucolipidose type II. Etude de deux observations familiales. Aspect cliniques et biochemiques. Pediatrie 29: 825
Lemaitre L, Remy T, Farriaux JP, Dhondt JL, Walbaum R (1978) Radiological signes of mucolipidosis II or I-cell disease. Pediatr Radiol 7: 97
Patriquin HB, Kaplan P, Kind HO, Giedion A (1977) Neonatal mucolipidosios II (I-cell disease): clinical and radiological features in three cases. AJR 129: 37
Maroteaux P (1971) Les mucolipidoses. Jourees Parisienne Pediatrie Flanmanis N, Paris, p 357
Maroteaux P, Hors-Cayla MC, Pont G (1970) La Mucolipidose de type II. Presse Med 78: 179
Pazzaglia UE, Beluffi G, Campbell JB, Bianchi E, Colavita N, Diard F, Gugliantini P, Hirche U, Kozlowski K, Marchi A, Nayanar V, Pagani G (in press) Mucolipidosis II: Correlation between radiological features and istopathology of the bones. Pediatr Radiol 19: 406
Leroy JG, Spranger JW, Feingold ME, Opitz JM, Crocker AC (1971) I-cell disease. A clinical picture. J Pediatr 79: 360
Spritz RA, Doughty RA, Spackman TJ, Murname MT, Coates PM, Koldovky O, Zackai EH (1978) Neonatal presentation of I-cell disease. Pediatr 93: 954
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Pazzaglia, U.E., Beluffi, G., Danesino, C. et al. Neonatal mucolipidosis 2. The spontaneous evolution of early bone lesions and the effect of vitamin D treatment. Pediatr Radiol 20, 80–84 (1989). https://doi.org/10.1007/BF02010640
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DOI: https://doi.org/10.1007/BF02010640