Terminal transverse limb defects associated with familial cavernous angiomatosis

Authors

  • Michele R. Filling-Katz,

    1. Laboratory of Neurogenetics, National Institute on Alcohol Abuse and Alcoholism
    Search for more papers by this author
    • Deceased.

  • Dr. Sondra W. Levin,

    Corresponding author
    1. Genetics, Exceptional Family Member Program, Department of Pediatrics, Walter Reed Army Medical Center, Washington, DC 20307
    2. Department of Pediatrics, Uniformed Services University of the Health Sciences, Bethesda, Maryland
    3. Human Genetics Branch, National Institute of Child Health and Human Development
    • Exceptional Family Member Program, Building 38, Department of Pediatrics, Walter Reed Army Medical Center, Washington, D.C. 20307-5001
    Search for more papers by this author
  • Nicholas J. Patronas,

    1. Warren G. Magnuson Clinical Center, Department of Radiology
    2. National Institutes of Health, Bethesda, Maryland
    Search for more papers by this author
  • Norman N. K. Katz

    1. Division of Ophthalmology, Uniformed Services University of the Health Sciences, Department of Surgery, Uniformed Services University of the Health Sciences, Bethesda, Maryland
    Search for more papers by this author
    • Deceased.


Abstract

Terminal transverse limb defects rarely are reported as familial. Multiple pathogenetic mechanisms, including vascular disruption, have been proposed to account for these defects. We report on a family followed over the past 6 years known to have familial cavernous angiomatosis in which 2 relatives have similar terminal transverse defects at the mid-forearm. Multiple relatives have had episodic bleeding from intracranial cavernous angiomas, a distinct finding in this disorder. Other findings in this family include retinal cavernous angiomas (2 patients), a high incidence of skin angiomas (12 patients), cavernous angiomas of the soft tissue (2 patients), and a hepatic angioma (one patient). One of the 2 individuals with the limb defect was evaluated extensively. Magnetic resonance imaging of the forearm with the terminal transverse defect using gadolinium-DTPA enhancement showed abrupt termination of all structures distal to the normal radial and ulnar heads. We propose that familial cavernous angiomatosis may be a new cause of vascular disruption resulting in terminal transverse limb defects.

Ancillary