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Encephalitis l: Introduction01:19

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Brain abnormalities in patients with hyperimmunoglobulin E syndrome.

Alexandra F Freeman1, Christina J Collura-Burke, Nicholas J Patronas

  • 1National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD, USA.

Pediatrics
|April 18, 2007
PubMed
Summary

Central nervous system abnormalities are common in Hyperimmunoglobulin E syndrome. Brain MRI reveals focal T2 hyperintensities in most patients, a key diagnostic feature for this rare disorder.

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Area of Science:

  • Neurology
  • Immunology
  • Radiology

Background:

  • Hyperimmunoglobulin E syndrome (HIES) is a rare multisystem disorder affecting immunologic, connective, and skeletal tissues.
  • Central nervous system (CNS) involvement has not been a recognized feature of HIES.

Purpose of the Study:

  • To investigate the presence and characteristics of CNS abnormalities using brain MRI in patients with HIES.
  • To determine if CNS abnormalities are a common feature of HIES.

Main Methods:

  • Brain MRI was performed on 50 patients diagnosed with HIES (ages 3-52).
  • Abnormalities were described, measured, and mapped. Neurologic findings and blood pressure were reviewed.

Main Results:

  • Focal brain lesions with high signal intensity on FLAIR/T2-weighted MRI were identified in 35 of 50 patients.
  • These hyperintensities were mainly in the cerebral white matter and more frequent in adults. Other findings included lacunar infarctions, Chiari type 1 malformations, and infectious complications.
  • Neurologic abnormalities were associated with specific MRI findings in a subset of patients.

Conclusions:

  • CNS abnormalities are prevalent in Hyperimmunoglobulin E syndrome.
  • Focal T2 hyperintensities on brain MRI are a prominent, previously unrecognized feature of HIES.
  • Further research is needed to understand the etiology and clinical significance of these CNS findings.