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Orsucci et al. Neuroimmunol Neuroinflammation 2018;5:7 Neuroimmunology and
DOI: 10.20517/2347-8659.2017.67 Neuroinflammation

Case Report Open Access

Steroids and plasma exchange in Isaacs' syndrome
with anti-Caspr2 antibodies

Daniele Orsucci *, Gianfranco Cafforio *, Gianluca Moscato , Alessandro Napolitano , Marco Margelli ,
1
1
2
1
1
Monica Mazzoni 1
1 Neurological Unit, San Luca Hospital, Lucca 55100, Italy.
2 Unit of Immunohematology and Transfusional Medicine, San Luca Hospital, Lucca 55100, Italy.
* Both authors contributed equally to this work.
Correspondence to: Dr. Daniele Orsucci, Unit of Neurology, San Luca Hospital, Via Lippi-Francesconi, Lucca 55100, Italy.
E-mail: orsuccid@gmail.com
How to cite this article: Orsucci D, Cafforio G, Moscato G, Napolitano A, Margelli M, Mazzoni M. Steroids and plasma exchange in
Isaacs' syndrome with anti-Caspr2 antibodies. Neuroimmunol Neuroinflammation 2018;5:7.
http://dx.doi.org/10.20517/2347-8659.2017.67
Received: 24 Dec 2017 Frist Decision: 2 Feb 2018 Revised: 13 Feb 2018 Accepted: 13 Feb 2018 Published: 8 Mar 2018

Science Editor: Athanassios P. Kyritsis Copy Editor: Jun-Yao Li Production Editor: Huan-Liang Wu

Abstract
Isaacs’ syndrome is a disease characterized by nerve hyperexcitability. The patients are commonly treated with
symptomatic therapies and immunomodulatory approaches, but no clinical trials are available to date. Here, we report
the case of an anti-Caspr2-positive patient, presenting with continuous muscle twitches and diffuse muscle pain. He
experienced a nearly complete clinical response to intravenous high-dose steroids combined with plasma exchange,
sustained for at least 1 year. Our experience suggests that methylprednisolone 1000 mg/day × 5 days and consecutive
tapering followed by plasma exchange may be efficient and well tolerated in patient with Isaacs’ syndrome due to anti-
Caspr2 antibodies.

Keywords: Contactin-associated protein-2, Isaac, neuromuscular hyperexcitability, neuromyotonia, voltage-gated
potassium channel

INTRODUCTION
Isaacs’ syndrome (“acquired neuromyotonia”) is a disease characterized by peripheral nerve hyperexcitability
and spontaneous and continuous skeletal muscle overactivity presenting as twitching and painful cramps,
[1]
often accompanied by stiffness, pseudomyotonia, pseudotetany and weakness . The commonest acquired
form is autoimmune, caused by antibodies against nerve voltage-gated potassium channels (VGKC). Patients
are commonly treated with symptomatic therapies (carbamazepine, phenytoin, lamotrigine or valproate) and

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