We present a case of 32-year-old male with profound mental retardation and autism spectrum disorder who had presented with seizures, rigidity and elevated creatine kinase and was initially diagnosed as neuroleptic malignant syndrome (NMS). The patient subsequently had a complicated clinical course, developing refractory status epilepticus, which lead to the eventual diagnosis of progressive encephalomyelitis with rigidity and myoclonus (PERM). We discuss the clinical similarities and differences between NMS and PERM, and highlight the need to consider alternative diagnoses when the clinical picture of NMS is atypical, particularly in this patient group where the history and clinical examination may be challenging.
Citations
Citations to this article as recorded by
Biomarkers of mitochondrial dysfunction in autism spectrum disorder: A systematic review and meta-analysis Richard E. Frye, Nicole Rincon, Patrick J. McCarty, Danielle Brister, Adrienne C. Scheck, Daniel A. Rossignol Neurobiology of Disease.2024; 197: 106520. CrossRef
A Systematic Review and Meta-Analysis of Immunoglobulin G Abnormalities and the Therapeutic Use of Intravenous Immunoglobulins (IVIG) in Autism Spectrum Disorder Daniel A Rossignol, Richard E Frye Journal of Personalized Medicine.2021; 11(6): 488. CrossRef
Progressive encephalomyelitis with rigidity: A Taiwanese case and review of literature Anna Chang, Kuan-yu Lin, Kai-Ju Chuang, Patrick Waters, Sarosh Irani, Victor Mgbachi, Hsu-Ling Yeh, Li-Ming Lien, Hou-Chang Chiu, Wei-Hung Chen Clinical Neurology and Neurosurgery.2021; 208: 106807. CrossRef
Neuroleptic Malignant Syndrome in Children with Autism Spectrum Disorder (ASD): A Case Report and Brief Review of Recent Literature Stefano Berloffa, Claudia Dosi, Benedetta Tascini, Beatrice Fossati, Ilaria Lupetti, Gabriele Masi Children.2021; 8(12): 1201. CrossRef
A case report of rigidity and recurrent lower limb myoclonus: progressive encephalomyelitis rigidity and myoclonus syndrome, a chameleon Aurélie Degeneffe, Marie Dagonnier, Alain D’hondt, Jose Antonio Elosegi BMC Neurology.2018;[Epub] CrossRef