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Updated: May 5, 2026

Induction and Clinical Scoring of Chronic-Relapsing Experimental Autoimmune Encephalomyelitis
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Progressive encephalomyelitis with rigidity and myoclonus: a pediatric case report and literature review

Yu Li1,2, Jing-Wen Wang1,2, Qi-Hui Chen1,2

  • 1Department of Pediatrics, Sun Yat-sen Memorial Hospital, Sun Yat-sen University, Guangzhou, China.

BMC Pediatrics
|July 3, 2024
PubMed

Insights

Progressive encephalomyelitis with rigidity and myoclonus (PERM) is a rare pediatric autoimmune CNS disorder. This case highlights successful immunotherapy in an 11-year-old boy, improving diagnosis and treatment awareness.

Area of Science:

  • Neuroimmunology
  • Pediatric Neurology

Background:

  • Progressive encephalomyelitis with rigidity and myoclonus (PERM) is a rare autoimmune central nervous system disease.
  • Pediatric PERM cases are exceptionally rare, with only ten previously reported worldwide.

Purpose of the Study:

  • To report a case of pediatric PERM.
  • To review the literature on pediatric PERM to enhance awareness and understanding.

Main Methods:

  • A case study of an 11-year-old boy presenting with PERM symptoms.
  • Diagnostic confirmation via a tissue-based assay on peripheral blood.
  • Treatment involved immunotherapy, including IV immunoglobulin, steroids, plasmapheresis, and rituximab.

Main Results:

  • The patient presented with a complex set of neurological symptoms including rigidity, spasms, sensory disturbances, and dysphagia.
  • Immunotherapy led to gradual and sustained clinical improvement.
  • Diagnostic assays confirmed the autoimmune nature of the condition.

Conclusions:

  • Early diagnosis and comprehensive treatment are crucial for improving outcomes in pediatric PERM.
  • Increased awareness among pediatric neurologists is needed for better management of this rare condition.
  • Further research is required to fully understand and manage PERM.
Abstract

Keywords:
Autonomic dysfunctionPediatricsProgressive encephalomyelitis with rigidity and myoclonusRigiditySpasm

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