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

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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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  1. 1.

    Babcock DS, Bove KE, Hug G, Dignan PSJ, Soukup S, Warren WS (1986) Fetal mucolipidosis II (I-cell disease): radiologic and pathologic correlation. Pediatr Radiol 16:32–39

  2. 2.

    Baggio P (1978) I-cell disease. Mucolipidosi II o Sialidosi. Min Ped 30:865–884

  3. 3.

    Gilbert EF, Dawson G, Zu Rhein GM, Opitz JM, Spranger JW (1973) I-cell disease, mucolipidosis II. Histochemical Ultrastructural and biochemical observations in four cases. Z Kinderheilkd 114:259–292

  4. 4.

    Hickman S, Neufeld EF (1972) A hypothesis for I-cell disease: defective hydrolases that do not enter lysosomes. Biochem Biophys Res Commun 49:992–999

  5. 5.

    Lemaitre L, Remy T, Farriaux JP, Dhondt JL, Walbaum R (1978) Radiological signs of mucolipidosis II or I-cell disease. Pediatr Radiol 7:97–105

  6. 6.

    Martin JJ, Leroy JG, Farriaux JP, Fontaine G, Desnick RJ, Cabello A (1975) I-cell disease (mucolipidosis II). A report on its pathology. Acta Neuropathol (Berl) 33:285–305

  7. 7.

    Patriquin HB, Kaplan P, Kind HP, Giedion A (1977) Neonatal mucolipidosis II (I-cell disease): clinical and radiological features in three cases. Am J Roentgenol 129:37–43

  8. 8.

    Taber P, Gyepes MT, Phillippart M, Ling S (1975) Roentgenographic manifestation of Leroy's I-cell disease. Am J Roentgenol 118:213–221

  9. 9.

    Terashima Y, Tsuda K, Isomura S, Sugiura Y, Nogami H (1975) I-cell disease. Am J Dis Child 129:1083–1090

  10. 10.

    Tondeur M, Vamos-Hurwitz E, Mockel-Pohl J, Dereume JP, Cremer N, Loeb H (1971) Clinical, biochemical and ultrastructural studies in a case of chondrodystrophy presenting the I-cell phenotype in tissue culture. J Pediatr 79:366–378

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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