"Pediatric Anti-Glyr Antibody-Associated Progressive Encephalomyelitis with Rigidity and Myoclonus: A Case Report and Literature Review"

Abstract

Progressive encephalomyelitis with rigidity and myoclonus (PERM), a rare neurological disorder, is part of the spectrum of Stiff-Person Syndromes (SPS). SPS is a group of diseases characterized by symmetrical rigidity and muscle stiffness, especially in the axial and proximal limb muscles [1]. PERM is primarily characterized by stiffness syndrome and inflammatory cerebrospinal fluid. Clonus, brainstem symptoms, long tract signs (signs of damage to the vertebral tracts), cognitive impairment, and seizures are also observed rarely. The incidence of PERM is low and is rare in children. The clinical features and laboratory examinations of a child with anti-GlyR antibody-related progressive encephalomyelitis (PERM) with tonic and myoclonus are summarized in order to improve the understanding of pediatric neurologists.

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

“… 2013 Balint et al [ 14 ] 2014 Patel et al [ 15 ] 2015 Tchapyinikov and Borst [ 16 ] 2017 Yeshokumar et al [ 17 ] 2021 Yeshokumar et al [ 17 ] 2021 Yeshokumar et al [ 17 ] 2021 Liu. F et al [ 18 ] 2022 Samuel et al [ 19 ] 2023 Current case 2023 Sex, age (years) Female, 1 Male, 15 Female, 15 Male, 18 Female, 15.5 Female, 8.4 Female, 14.8 Male, 4.5 Female, 16 Female, 11 Clinical features Initial presentation Irritability, restless sleep, axial hyperextension, rigidity, and generalized myoclonus Unsteadiness of the right arm, and excessive startling triggered by noise, or touching of the trunk Muscle spasm triggered by doorbell rings Urinary retention Right knee pain or tightness, right-hand spasm, twisting of the right lower face, falls, and anxiety or depression Seizures, progressive weakness that was more severe on the right than the left, fatigue, bilateral ptosis, and hyperlordosis. Horizontal diplopia, upper back tightness and spasm, and left shoulder or arm stiffness Vomit, soft legs, persistent right strabismus of both eyes, the disappearance of left forehead lines, closed eyes, and weakness in the nose Hyperthermia, stiffness, shock, and respiratory distress cervical lymphadenitis, abdominal pain, and skin itching Late manifestation Stiffness, spasm or myoclonus, brainstem signs, and dysautonomia Stiffness, spasm or myoclonus, cognitive impairment, brainstem signs, and dysautonomia ...…”