Steroid resistant nephrotic syndrome associated with spondyloepiphyseal dysplasia, transient ischemic attacks and lymphopenia

Clin Nephrol. 1995 Feb;43(2):89-95.


Focal segmental glomerulosclerosis, nephrotic syndrome and chronic renal failure were associated with spondyloepiphyseal dysplasia, growth failure, lymphopenia and transient ischemic attacks leading to severe neurological symptoms in three children. Two boys and one girl developed the full syndrome at the age of 5, 6 and 10 years. Positron emission tomography revealed perfusion defects of both cerebral and cerebellar arteries. A variant of the disease was found in two other children who had a nephrotic syndrome and terminal renal failure with only mild spondyloepiphyseal dysplasia, impaired growth and a normal cerebral function. It is concluded that there may be a close association between focal segmental glomerulosclerosis and spondyloepiphyseal dysplasias.

Publication types

  • Case Reports

MeSH terms

  • Brain / diagnostic imaging
  • Child
  • Child, Preschool
  • Drug Resistance
  • Female
  • Glomerulosclerosis, Focal Segmental / complications*
  • Growth Disorders / etiology
  • Humans
  • Ischemic Attack, Transient / complications*
  • Ischemic Attack, Transient / diagnostic imaging
  • Kidney Failure, Chronic / etiology
  • Kidney Failure, Chronic / surgery
  • Kidney Transplantation
  • Lymphopenia / complications*
  • Male
  • Nephrotic Syndrome / complications*
  • Nephrotic Syndrome / drug therapy
  • Osteochondrodysplasias / complications*
  • Syndrome
  • Tomography, Emission-Computed