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Progressive encephalomyelitis with rigidity and myoclonus: a pediatric case report and literature review

by Chen, Qi-hui , Li, Yu , Wu, Ruo-hao , Luo, Xiang-yang , Wang, Jing-wen , He, Zhan-wen

in Abdomen / Antibodies / Apheresis / Autonomic dysfunction / Case Report / Case reports / Child / Children / Consciousness / Demographic aspects / Diagnosis / Diagnostic tests / Disease / Dyskinesia / Dysphagia / Electromyography / Encephalomyelitis / Encephalomyelitis - complications / Encephalomyelitis - diagnosis / Health aspects / Humans / Immunoglobulins / Immunotherapy / Internal Medicine / Magnetic resonance imaging / Male / Medical diagnosis / Medicine / Medicine & Public Health / Methods / Monoclonal antibodies / Muscle Rigidity - etiology / Myoclonus / Myoclonus - diagnosis / Myoclonus - etiology / Neck / Nervous system / Pain / Patients / Pediatrics / Progressive encephalomyelitis with rigidity and myoclonus / Pruritus / Rigidity / Spasm / Spinal cord / Tomography

2024

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Progressive encephalomyelitis with rigidity and myoclonus: a pediatric case report and literature review

by Chen, Qi-hui , Li, Yu , Wu, Ruo-hao , Luo, Xiang-yang , Wang, Jing-wen , He, Zhan-wen

2024

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Progressive encephalomyelitis with rigidity and myoclonus: a pediatric case report and literature review

by Chen, Qi-hui , Li, Yu , Wu, Ruo-hao , Luo, Xiang-yang , Wang, Jing-wen , He, Zhan-wen

2024

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Journal Article

Progressive encephalomyelitis with rigidity and myoclonus: a pediatric case report and literature review

Chen, Qi-hui,

Li, Yu,

Wu, Ruo-hao,

Luo, Xiang-yang,

Wang, Jing-wen,

He, Zhan-wen

2024

Overview

Background Progressive encephalomyelitis with rigidity and myoclonus (PERM) is a rare and life-threatening autoimmune disease of the central nervous system. So far, only ten cases of PERM have been reported in children worldwide, including the one in this study. Case presentation We report a case of an 11-year-old boy with PERM with an initial presentation of abdominal pain, skin itching, dysuria, urinary retention, truncal and limb rigidity, spasms of the trunk and limbs during sleep, deep and peripheral sensory disturbances, and dysphagia. A tissue-based assay using peripheral blood was positive, demonstrated by fluorescent staining of mouse cerebellar sections. He showed gradual and persistent clinical improvement after immunotherapy with intravenous immunoglobulin, steroids, plasmapheresis and rituximab. Conclusions We summarized the diagnosis and treatment of a patient with PERM and performed a literature review of pediatric PERM to raise awareness among pediatric neurologists. A better comprehension of this disease is required to improve its early diagnosis, treatment, and prognosis.

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Publisher

BioMed Central,BioMed Central Ltd,Springer Nature B.V,BMC

Subject

Abdomen

/ Antibodies

/ Apheresis

/ Autonomic dysfunction

/ Case Report

/ Case reports

/ Child