Titre
CASPR2 autoimmunity in children expanding to mild encephalopathy with hypertension
Type
article
Institution
Externe
Périodique
Auteur(s)
Syrbe, S.
Auteure/Auteur
Stettner, G. M.
Auteure/Auteur
Bally, J.
Auteure/Auteur
Borggraefe, I.
Auteure/Auteur
Bien, C. I.
Auteure/Auteur
Ferfoglia, R. I.
Auteure/Auteur
Huppke, P.
Auteure/Auteur
Kern, J.
Auteure/Auteur
Polster, T.
Auteure/Auteur
Probst-Muller, E.
Auteure/Auteur
Schmid, S.
Auteure/Auteur
Steinfeld, R.
Auteure/Auteur
Strozzi, S.
Auteure/Auteur
Weichselbaum, A.
Auteure/Auteur
Weitz, M.
Auteure/Auteur
Ziegler, A.
Auteure/Auteur
Wandinger, K. P.
Auteure/Auteur
Leypoldt, F.
Auteure/Auteur
Bien, C. G.
Auteure/Auteur
Liens vers les personnes
ISSN
1526-632X
Statut éditorial
Publié
Date de publication
2020
Volume
94
Numéro
22
Première page
e2290
Dernière page/numéro d’article
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.
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.
PID Serval
serval:BIB_786C892AD52B
PMID
Date de création
2021-05-21T08:09:44.459Z
Date de création dans IRIS
2025-05-21T02:40:55Z