Spasms and Myoclonus in a Young Woman With Hashimoto Thyroiditis

Shen, Dingding; Zhou, Haiyan; Chen, Sheng

doi:10.1001/jamaneurol.2020.0175

Cited by 2 publications

(2 citation statements)

References 12 publications

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“…Simultaneously, our patient simultaneously had antithyroid peroxidase antibodies, suggesting immune dysfunction involvement. Studies have found that PERM is closely associated with other autoimmune diseases such as thyroid disorders and diabetes [ 10 ]. Therefore, our patient requires monitoring for the development of potential autoimmune disease.…”

Section: Discussionmentioning

confidence: 99%

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

Li,

Wang,

Chen

et al. 2024

BMC Pediatr

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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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Section: Discussionmentioning

confidence: 99%

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

Li,

Wang,

Chen

et al. 2024

BMC Pediatr

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show abstract

“…At the same time, our patient simultaneously had antithyroid peroxidase antibody and antithyroglobulin antibody, which suggested the involvement of immune dysfunction. Studies have found that PERM was closely related to other autoimmune diseases such as thyroid disorders and diabetes [10]. Therefore, our patient requires monitoring for the development of potential autoimmune disease.…”

Section: Case Presentationmentioning

confidence: 99%

Progressive Encephalomyelitis with Rigidity and Myoclonus: A pediatric Case Report and Literature Review

Li,

Wang,

Chen

et al. 2024

Preprint

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Progressive Encephalomyelitis with Rigidity and Myoclonic (PERM) is a serious life-threatening autoimmune disease characterized by rigidity, muscle pain spasm, deep and shallow sensory impairment, brainstem spinal cord symptoms, autonomic dysfunction, sudden spontaneous, stimulus-induced myoclonus. PERM demonstrates varied initial symptoms and involves the extremities, brainstem, spinal cord, and autonomic nerves. Most cases show significant improvement with immunotherapy. PERM is rarely seen in children. We report an 11-year-old boy with PERM. His presentation began with abdominal pain and skin itching, followed by dysuria and urinary retention, truncal and limb rigidity, spasms of the trunk and limbs during sleeping, deep and shallow sensory disturbances, and dysphagia. Tissue-based assay (TBA) demostrated positive cell-like fluorescence in neuronal dendrites of the hippocampus and cerebellum’s Purkinje cells. He had fluctuating clinical response despite immunotherapy (immunoglobulin, dexamethasone and plasmapheresis). In the fifth month since admission, he showed gradual and persistent clinical improvement after one month of stronger immunotherapy treatment of intravenous immunoglobulin, steroids and rituximab. He was discharged with motor function gradually recovered and sensory impairment disappeared after 7 months of hospitalization. During follow-up so far, only the mobility disorder from the hip to the ankle joint remains. Our patient is hidden on the onset of the disease. At first, he appeared autonomic nervous dysfunction with abdominal pain and itchy skin, and gradually muscle tonics, which can easily lead to misdiagnosis. We summarized the diagnosis and treatment of a PERM patient, and also summarized the literature review of the report of child PERM patients to raise the awareness of pediatric neurologists. More comprehension of this disease is required to improve the early diagnosis and effects of treatment, as well as to improve the prognosis.

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Spasms and Myoclonus in a Young Woman With Hashimoto Thyroiditis

Cited by 2 publications

References 12 publications

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

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

Progressive Encephalomyelitis with Rigidity and Myoclonus: A pediatric Case Report and Literature Review

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