Grange syndrome: an identifiable cause of stroke in young adults

Am J Med Genet A. 2012 Nov;158A(11):2894-8. doi: 10.1002/ajmg.a.35593. Epub 2012 Sep 17.

Abstract

Grange syndrome is a disorder characterized by arterial occlusive disease, hypertension, congenital cardiac defects, bone fragility, brachysyndactyly, and learning disabilities. It was first described in four members of the same family and in two sporadic cases thereafter, suggesting the possibility of various patterns of inheritance. We report on the case of an 18-year-old female presenting with subarachnoid hemorrhage due to the rupture of a basilar artery aneurysm, and with distinctive systemic features including extensive vasculopathy, facial dysmorphisms and brachysyndactyly, consistent with the diagnosis of Grange syndrome. Although rare and not fully characterized, Grange syndrome should be included in the differential diagnosis of stroke at young age.

Publication types

  • Case Reports

MeSH terms

  • Adolescent
  • Arterial Occlusive Diseases / complications*
  • Bone and Bones / abnormalities
  • Brachydactyly / complications*
  • Cerebral Angiography
  • Facies
  • Female
  • Foot Deformities, Congenital
  • Hand Deformities, Congenital
  • Heart Defects, Congenital / complications*
  • Humans
  • Hypertension / complications*
  • Intracranial Aneurysm / diagnosis
  • Phenotype
  • Stroke / diagnosis
  • Stroke / etiology*
  • Subarachnoid Hemorrhage / diagnosis
  • Subarachnoid Hemorrhage / etiology
  • Syndactyly / complications*

Supplementary concepts

  • Arterial Occlusive Disease, Progressive, with Hypertension, Heart Defects, Bone Fragility, and Brachysyndactyly