Virchows Archiv A

, Volume 391, Issue 3, pp 275–289 | Cite as

An unusual case of metaphyseal chondrodysplasia with an abnormal perilacunar matrix associated with agranulocytosis and hypoplasia of the thymus

  • Kunio Ichijima
  • Hirohiko Yamabe
  • Yoichiro Kobashi
  • Haruo Ogawa
  • Kyoji Akaishi
Original Articles

Summary

We report herein an unusual skeletal dysplasia in a 6-month-old boy characterized by metaphyseal dysplasia associated with agranulocytosis and hypoplasia of the thymus. A radiological survey revealed generalized metaphyseal abnormalities showing widening and increased density. Pathological changes in the chondro-osseous tissues were unusual and distinctive. There was widespread evidence of abnormal chondrocytes with an abnormal perilacunar matrix containing a PAS-positive, diastase resistant substance. Chondrocyte maturation and regular columnar arrangement were absent in most growth plates with only scattered ball-like nests of chondrocytes showing incomplete maturation. This case is a newly described form of osteochondrodysplasia.

Key words

Bone disease, developmental Dwarfism Metaphyseal chondrodysplasia Agranulocytosis Hypoplasia of the thymus 

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Copyright information

© Springer-Verlag 1981

Authors and Affiliations

  • Kunio Ichijima
    • 1
  • Hirohiko Yamabe
    • 1
  • Yoichiro Kobashi
    • 1
  • Haruo Ogawa
    • 2
  • Kyoji Akaishi
    • 2
  1. 1.Department of PathologyTenri HospitalNaraJapan
  2. 2.Department of PediatricsTenri HospitalNaraJapan

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