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Brain abnormalities in patients with hyperimmunoglobulin E syndrome.

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Title: Brain abnormalities in patients with hyperimmunoglobulin E syndrome.
Authors: Freeman AF (AUTHOR), Collura-Burke CJ (AUTHOR), Patronas NJ (AUTHOR), Ilcus LS (AUTHOR), Darnell D (AUTHOR), Davis J (AUTHOR), Puck JM (AUTHOR), Holland SM (AUTHOR)
Source: Pediatrics. May2007, Vol. 119 Issue 5, pe1121-5. 1p.
Abstract: 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. [ABSTRACT FROM AUTHOR]
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Database: Psychology and Behavioral Sciences Collection
Description
Abstract: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. [ABSTRACT FROM AUTHOR]
ISSN:00314005
DOI:10.1542/peds.2006-2649