Brain hemorrhages in Jacobsen syndrome: A retrospective review of six cases and clinical recommendations

Am J Med Genet A. 2017 Mar;173(3):667-670. doi: 10.1002/ajmg.a.38032.


Jacobsen syndrome is a rare chromosomal disorder caused by distal deletions in the long arm of chromosome 11. All patients with Jacobsen syndrome have Paris-Trousseau syndrome, a bleeding disorder that causes neonatal thrombocytopenia, and persistent platelet dysfunction. Despite that, to date there are no reported cases of hemorrhagic strokes occurring in patients with Jacobsen syndrome. In the last 6 years at least six cases of brain hemorrhages in patients with Jacobsen syndrome have occurred. In this report, we perform a retrospective review of these six cases. The analysis indicates that the etiology of brain hemorrhages in Jacobsen syndrome is likely multifactorial. A likely cause (or causes) was identified in three of the cases, and additional potential risk factors were identified. Based on these findings, clinical recommendations are provided that should aid in the identification of those individuals with Jacobsen syndrome that are at increased risk for brain hemorrhages, and will hopefully decrease the occurrence of this devastating complication in people with Jacobsen syndrome.© 2017 Wiley Periodicals, Inc.

Keywords: Jacobsen syndrome; Paris-Trousseau syndrome; hemorrhagic stroke.

Publication types

  • Case Reports
  • Review

MeSH terms

  • Adolescent
  • Child
  • Diagnostic Imaging
  • Disease Management
  • Fatal Outcome
  • Female
  • Hematologic Tests
  • Humans
  • Infant
  • Intracranial Hemorrhages / diagnosis*
  • Intracranial Hemorrhages / etiology*
  • Jacobsen Distal 11q Deletion Syndrome / complications*
  • Jacobsen Distal 11q Deletion Syndrome / diagnosis
  • Jacobsen Distal 11q Deletion Syndrome / genetics
  • Male
  • Risk Factors
  • Young Adult