Spondyloepiphyseal dysplasia with nephrotic syndrome (Schimke immunoosseous dysplasia)

Am J Med Genet. 1994 Feb 1;49(3):270-3. doi: 10.1002/ajmg.1320490305.


The first symptoms of immunooseous dysplasia were growth retardation and myopia. Nephrotic syndrome was diagnosed at the age of 8 years. Skeletal roentgenograms showed spondyloepiphyseal dysplasia. In the renal biopsy there was nodular accumulations of PAS-positive hyaline material at the base of the granular stalks. There was lymphopenia with decreased CD4 and CD8 subpopulations. The condition of the patient gradually worsened until she died unexpectedly at 10 years with clinical symptoms of encephalitis. Autopsy documented cytomegaloviral pneumonia and advanced mesangioproliferative glomerulonephritis. In the spleen there was PAS-positive hyaline material massively infiltrating the walls of the central arterioles of the splenic follicles. There was marked depletion of lymphocytes in the spleen and in lymph nodes. The differential diagnosis of immunooseous dysplasia in the framework of spondyloepiphyseal dysplasia is discussed.

Publication types

  • Case Reports

MeSH terms

  • Child
  • Diagnosis, Differential
  • Female
  • Growth Disorders / complications
  • Growth Disorders / genetics
  • Humans
  • Immunologic Deficiency Syndromes / complications
  • Immunologic Deficiency Syndromes / genetics
  • Myopia / complications
  • Myopia / genetics
  • Nephrotic Syndrome / complications
  • Nephrotic Syndrome / genetics*
  • Osteochondrodysplasias / complications
  • Osteochondrodysplasias / diagnosis
  • Osteochondrodysplasias / genetics*