Neonatal mucolipidosis 2. The spontaneous evolution of early bone lesions and the effect of vitamin D treatment. Report of two cases

Pediatr Radiol. 1989;20(1-2):80-4. doi: 10.1007/BF02010640.

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.

Publication types

  • Case Reports

MeSH terms

  • Aging / metabolism
  • Bone Diseases, Metabolic / congenital
  • Bone Diseases, Metabolic / diagnostic imaging
  • Bone and Bones / diagnostic imaging*
  • Bone and Bones / metabolism
  • Humans
  • Infant, Newborn
  • Male
  • Mucolipidoses / complications
  • Mucolipidoses / diagnostic imaging
  • Mucolipidoses / drug therapy*
  • Osteoporosis / diagnostic imaging
  • Osteoporosis / etiology
  • Radiography
  • Vitamin D / therapeutic use*

Substances

  • Vitamin D