Progressive Encephalomyelitis with Rigidity and Myoclonus in an Intellectually Disabled Patient Mimicking Neuroleptic...

Area of Science:

• Neurology
• Neuroimmunology
• Autism Spectrum Disorder Research

Background:

• Autism spectrum disorder (ASD) and profound mental retardation can present complex clinical challenges.
• Neuroleptic Malignant Syndrome (NMS) is a rare but serious adverse drug reaction.
• Progressive Encephalomyelitis with Rigidity and Myoclonus (PERM) is a rare autoimmune disorder.

Purpose of the Study:

• To present a case of a patient with ASD initially misdiagnosed with NMS.
• To differentiate between NMS and PERM in a challenging clinical scenario.
• To underscore the importance of considering alternative diagnoses in atypical NMS cases.

Main Methods:

• Case report analysis of a 32-year-old male with ASD.
• Review of clinical presentation including seizures, rigidity, and elevated creatine kinase.
• Differential diagnosis discussion comparing NMS and PERM.

Main Results:

• Initial diagnosis of NMS was revised to PERM after refractory status epilepticus developed.
• Clinical similarities and differences between NMS and PERM were identified.
• The patient's complex presentation highlighted diagnostic challenges in individuals with ASD.

Conclusions:

• Atypical NMS presentations require consideration of alternative diagnoses like PERM.
• Diagnostic challenges are amplified in patients with ASD and cognitive impairment.
• Early and accurate diagnosis is crucial for appropriate management of neurological emergencies.