CASPR2 autoimmunity in children expanding to mild encephalopathy with hypertension

Détails

ID Serval
serval:BIB_786C892AD52B
Type
Article: article d'un périodique ou d'un magazine.
Collection
Publications
Titre
CASPR2 autoimmunity in children expanding to mild encephalopathy with hypertension
Périodique
Neurology
Auteur(s)
Syrbe S., Stettner G. M., Bally J., Borggraefe I., Bien C. I., Ferfoglia R. I., Huppke P., Kern J., Polster T., Probst-Muller E., Schmid S., Steinfeld R., Strozzi S., Weichselbaum A., Weitz M., Ziegler A., Wandinger K. P., Leypoldt F., Bien C. G.
ISSN
1526-632X (Electronic)
ISSN-L
0028-3878
Statut éditorial
Publié
Date de publication
2020
Volume
94
Numéro
22
Pages
e2290-e2301
Langue
anglais
Notes
Syrbe, Steffen
Stettner, Georg M
Bally, Julien
Borggraefe, Ingo
Bien, Corinna I
Ferfoglia, Ruxandra Iancu
Huppke, Peter
Kern, Jan
Polster, Tilman
Probst-Muller, Elisabeth
Schmid, Silvia
Steinfeld, Robert
Strozzi, Susi
Weichselbaum, Annette
Weitz, Marcus
Ziegler, Andreas
Wandinger, Klaus-Peter
Leypoldt, Frank
Bien, Christian G
eng
Research Support, Non-U.S. Gov't
Neurology. 2020 Jun 2;94(22):e2290-e2301. doi: 10.1212/WNL.0000000000009523. Epub 2020 May 18.
Résumé
OBJECTIVE: To delineate autoimmune disease in association with contactin-associated protein 2 (CASPR2) antibodies in childhood, we reviewed the clinical phenotype of children with CASPR2 antibodies. METHODS: Retrospective assessment of patients recruited through laboratories specialized in autoimmune CNS disease. RESULTS: Ten children with serum CASPR2 antibodies were identified (age at manifestation 18 months to 17 years). Eight children with CASPR2 antibody titers from >/=1:160 to 1:5,120 had complex autoimmune diseases with an age-dependent clinical phenotype. Two children with structural epilepsy due to CNS malformations harbored nonspecific low-titer CASPR2 antibodies (serum titers 1:80). The clinical symptoms of the 8 children with high-titer CASPR2 antibodies were general weakness (8/8), sleep dysregulation (8/8), dysautonomia (8/8) encephalopathy (7/8), neuropathic pain (7/8), neuromyotonia (3/8), and flaccid paresis (3/8). Adolescents (3/8) showed pain, neuromyotonia, and encephalopathy, whereas younger children (5/8) displayed severe hypertension, encephalopathy, and hormonal dysfunction mimicking a systemic disease. No tumors were identified. Motor symptoms remitted with immunotherapy. Mild behavioral changes persisted in 1 child, and autism spectrum disorder was diagnosed during follow-up in a young boy. CONCLUSION: High-titer CASPR2 antibodies are associated with Morvan syndrome in children as young as 2 years. However, CASPR2 autoimmunity mimics systemic disease and hypertensive encephalopathy in children younger than 7 years. The outcome following immunotherapy was mostly favorable; long-term behavioral impairment may occur in younger children.
Mots-clé
Adolescent, Autoantibodies/*blood/immunology, Autoimmunity/*physiology, Brain Diseases/*blood/immunology/therapy, Child, Child, Preschool, Female, Humans, Hypertension/*blood/immunology/therapy, Immunotherapy/methods, Infant, Male, Membrane Proteins/*blood/immunology, Nerve Tissue Proteins/*blood/immunology, Retrospective Studies, Syringomyelia/*blood/immunology/therapy
Pubmed
Création de la notice
21/05/2021 10:09
Dernière modification de la notice
22/05/2021 6:34
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