Intracranial calcification, retinopathy, and osteopenia: a new syndrome?

Pediatr Neurol. 2002 Apr;26(4):324-8. doi: 10.1016/s0887-8994(01)00398-8.

Abstract

We describe two brothers with bilateral exudative retinopathy, intracranial calcifications, a sclerotic bony disorder, and normal intelligence. The younger brother also has osteopenia, mild splenomegaly, and pancytopenia. We review the literature with emphasis on the unique features of these patients.

Publication types

  • Case Reports

MeSH terms

  • Adolescent
  • Bone Diseases, Metabolic / diagnosis*
  • Bone Diseases, Metabolic / genetics
  • Brain Diseases / diagnosis*
  • Brain Diseases / genetics
  • Calcinosis / diagnosis*
  • Calcinosis / genetics
  • Diagnosis, Differential
  • Humans
  • Male
  • Retina / pathology*
  • Syndrome