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Study of the bone pathology in early mucolipidosis II (I-cell disease)

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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.

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Correspondence to U. E. Pazzaglia.

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Pazzaglia, U.E., Beluffi, G., Bianchi, E. et al. Study of the bone pathology in early mucolipidosis II (I-cell disease). Eur J Pediatr 148, 553–557 (1989). https://doi.org/10.1007/BF00441557

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Key words

  • Mucolipidosis II
  • I-cell disease
  • Dysostosis multiplex
  • Rickets
  • Hyperparathyroidism