Schimke immunoosseous dysplasia complicated by moyamoya phenomenon

Am J Med Genet. 1998 Jun 30;78(2):118-22. doi: 10.1002/(sici)1096-8628(19980630)78:2<118::aid-ajmg4>;2-k.


Schimke immunoosseous dysplasia (SID) is an autosomal recessive spondyloepiphyseal dysplasia that was first described by Schimke et al. [1971: Lancet 2:1088-1089]. It is associated with premature arteriosclerosis and cerebral ischemia; however, the cerebral vascular abnormalities causing ischemia have not been described [Spranger et al., 1991: J Pediatr 119:64-72; Ehrich et al., 1995: Clin Nephrol 43:89-95]. Based on magnetic resonance angiography (MRA) and magnetic resonance venography (MRV), we now report on 2 girls with SID who have cerebral ischemia associated with moyamoya phenomenon. In addition, one patient also has an absent or occluded left transverse sinus and diffuse aortic narrowing. This is the first characterization of the cerebral vascular abnormality found in SID and raises the possibility that cerebral moyamoya may represent another major manifestation of the underlying genetic defect in SID.

Publication types

  • Case Reports

MeSH terms

  • Brain Ischemia / complications*
  • Brain Ischemia / diagnostic imaging
  • Brain Ischemia / genetics
  • Brain Ischemia / physiopathology
  • Child
  • Female
  • Humans
  • Male
  • Moyamoya Disease / complications*
  • Moyamoya Disease / diagnostic imaging
  • Moyamoya Disease / genetics
  • Moyamoya Disease / physiopathology
  • Osteochondrodysplasias / complications*
  • Osteochondrodysplasias / diagnostic imaging
  • Osteochondrodysplasias / genetics
  • Osteochondrodysplasias / physiopathology
  • Pedigree
  • Radiography