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.
Adult ; Autism Spectrum Disorder ; Autistic Disorder ; Creatine Kinase ; Diagnosis ; Encephalomyelitis* ; Humans ; Intellectual Disability ; Male ; Myoclonus* ; Neuroleptic Malignant Syndrome* ; Seizures ; Status Epilepticus