Central nervous system involvement in Erdheim-Chester disease: a magnetic resonance imaging study.
Clin Imaging
; 115: 110281, 2024 Nov.
Article
em En
| MEDLINE
| ID: mdl-39270429
ABSTRACT
PURPOSE:
To characterize brain MR imaging findings in a cohort of 58 patients with ECD and to evaluate relationship between these findings and the BRAFV600E pathogenic variant.METHODS:
ECD patients of any gender and ethnicity, aged 2-80 years, with biopsy-confirmed ECD were eligible to enroll in this study. Two radiologists experienced in evaluating ECD CNS disease activity reviewed MRI studies. Any disagreements were resolved by a third reader. Frequencies of observed lesions were reported. The association between the distribution of CNS lesions and the BRAFV600Epathogenic variant was evaluated using Fisher's exact test and odd ratio.RESULTS:
The brain MRI of all 58 patients with ECD revealed some form of CNS lesions, most likely due to ECD. Cortical lesions were noted in 27/58 (46.6 %) patients, cerebellar lesions in 15/58 (25.9 %) patients, brain stem lesions in 17/58 cases (29.3 %), and pituitary lesions in 10/58 (17.2 %) patients. Premature cortical atrophy was observed in 8/58 (13.8 %) patients. BRAFV600E pathogenic variant was significantly associated with cerebellar lesions (p = 0.016) and bilateral brain stem lesions (p = 0.043). A trend toward significance was noted for cerebral atrophy (p = 0.053).CONCLUSION:
The study provides valuable insights into the brain MRI findings in ECD and their association with the BRAFV600E pathogenic variant, particularly its association in cases with bilateral lesions. We are expanding our understanding of how ECD affects cerebral structures. Knowledge of MRI CNS lesion patterns and their association with mutations such as the BRAF variant is helpful for both prognosis and clinical management.Palavras-chave
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Imageamento por Ressonância Magnética
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Doença de Erdheim-Chester
Limite:
Adolescent
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Adult
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Aged
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Aged80
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Child
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Child, preschool
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Female
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Humans
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Male
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Middle aged
Idioma:
En
Revista:
Clin Imaging
Assunto da revista:
DIAGNOSTICO POR IMAGEM
Ano de publicação:
2024
Tipo de documento:
Article
País de afiliação:
Estados Unidos