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BMC Neurology

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Open Access 01-12-2018 | Case report

A case report of rigidity and recurrent lower limb myoclonus: progressive encephalomyelitis rigidity and myoclonus syndrome, a chameleon

Authors: Aurélie Degeneffe, Marie Dagonnier, Alain D’hondt, Jose Antonio Elosegi

Published in: BMC Neurology | Issue 1/2018

Abstract

Background

Progressive encephalomyelitis with rigidity and myoclonus (PERM) syndrome is a rare neurological condition. Its clinical characteristics include axial and limb muscle rigidity, myoclonus, painful spasms and hyperekplexia. Diagnosis of this disease can be very challenging and optimal long-term treatment is unclear.

Case presentation

We report a case of a 62 year old patient admitted for repetitive myoclonus and rigidity in the lower limbs progressing since 10 years, associated with a fluctuating encephalopathy requiring stays in Intensive Care Unit. Multiple diagnostics and treatment were proposed, unsuccessfully, before the diagnosis of PERM syndrome was established. In association with the clinical presentation, a strong positive result for GAD (glutamic acid decarboxylase) antibodies lead to the diagnosis of PERM syndrome.

Conclusions

PERM syndrome is a rare disease and its diagnosis is not easy. Once the diagnosis is established, the correct treatment should follow and could be lifesaving, regardless of a delayed diagnosis. Maintenance of long-term oral corticotherapy is suggested to prevent relapses.

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Title: A case report of rigidity and recurrent lower limb myoclonus: progressive encephalomyelitis rigidity and myoclonus syndrome, a chameleon
Authors: Aurélie Degeneffe
Marie Dagonnier
Alain D’hondt
Jose Antonio Elosegi
Publication date: 01-12-2018
Publisher: BioMed Central
Published in: BMC Neurology / Issue 1/2018
Electronic ISSN: 1471-2377
DOI: https://doi.org/10.1186/s12883-018-1176-3

At a glance: The ONWARDS insulin icodec trials

Springer Medicine

A case report of rigidity and recurrent lower limb myoclonus: progressive encephalomyelitis rigidity and myoclonus syndrome, a chameleon

Abstract

Background

Case presentation

Conclusions

At a glance: The ONWARDS insulin icodec trials

Springer Medicine

Abstract

Background

Case presentation

Conclusions

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