Published online April 16, 2007
PEDIATRICS Vol. 119 No. 5 May 2007, pp. e1121-e1125 (doi:10.1542/peds.2006-2649)
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ARTICLE

Brain Abnormalities in Patients With Hyperimmunoglobulin E Syndrome

Alexandra F. Freeman, MDa, Christina J. Collura-Burke, DO, MPHb, Nicholas J. Patronas, MDc, Lidia Stana Ilcus, MDc, Dirk Darnell, MSNa, Joie Davis, APRN, APNGd, Jennifer M. Puck, MDe and Steven M. Holland, MDa

a National Institute of Allergy and Infectious Diseases
c Clinical Center
d National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland
b Walter Reed Army Medical Center, Washington, DC
e Department of Pediatrics, University of California, San Francisco, California

OBJECTIVES. Hyperimmunoglobulin E syndrome is a multisystem disorder with abnormalities of the immunologic, connective tissue, and skeletal tissue systems. Central nervous system abnormalities have not been considered a feature of hyperimmunoglobulin E syndrome. We aimed to determine whether central nervous system abnormalities detected on brain MRI exist in hyperimmunoglobulin E syndrome and to characterize any identified abnormalities.

PATIENTS AND METHODS. Fifty patients aged from 3 to 52 years (mean: 24 years) with established diagnoses of hyperimmunoglobulin E syndrome had MRI of the brain as part of an hyperimmunoglobulin E syndrome natural history protocol. Abnormalities were described, measured, counted, and mapped. Patient charts were reviewed for neurologic findings and blood pressure measurements.

RESULTS. Focal brain lesions exhibiting high signal intensities on flow-attenuated inversion recovery and on T2-weighted techniques were found in 35 of the 50 patients. The focal hyperintensities were predominantly in the white matter of the cerebral hemispheres, and the number ranged from 2 to >50. The hyperintensities occurred more frequently in adults than in children, and no association with elevated blood pressure was found. Five patients had lacunar infarctions. Chiari type 1 malformations were found in 9 of 50 patients. Two patients had infectious complications presenting on MRI as cerebritis in 1 patient and as a hemorrhagic infarct in the other; both were found on autopsy to be fungal. Neurologic abnormalities were present in 1 patient with a lacunar infarction, the 2 patients with infectious complications, and in 1 patient with a subarachnoid hemorrhage secondary to a berry aneurysm.

CONCLUSIONS. Central nervous system abnormalities are common in hyperimmunoglobulin E syndrome. Focal T2 hyperintensities, not appreciated previously, represent a prominent feature of this rare disease that may assist in diagnosis. The etiology and clinical implications of these abnormalities remain to be investigated.

Key Words: immunodeficiency • lacunar infarction • brain imaging • Chiari malformation • hyperintensities

Abbreviations: HIES—hyperimmunoglobulin E syndrome • CNS—central nervous system • TR—repetition time • TE—echo time • FLAIR—fluid-attenuated inversion recovery • NF1—neurofibromatosis type 1

Accepted Nov 14, 2006.




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