Atypical Pediatric Demyelinating Diseases of the Central Nervous System

Area of Science:

• Neurology
• Neuroimmunology
• Pediatric Neurology

Background:

• Pediatric central nervous system (CNS) demyelinating diseases encompass conditions like multiple sclerosis (MS), neuromyelitis optica spectrum disorder (NMOSD), and acute disseminated encephalomyelitis (ADEM).
• Evolving diagnostic criteria increase the risk of misdiagnosing atypical demyelinating diseases with rheumatologic, infectious, or autoimmune origins.

Purpose of the Study:

• To review conditions that mimic classic pediatric CNS demyelinating diseases.
• To highlight the importance of accurate diagnosis in preventing mistreatment.

Main Methods:

• Literature review of rheumatologic, infectious, and autoimmune diseases that present as atypical demyelinating disorders.
• Analysis of clinical presentations and neuroimaging findings.

Main Results:

• Mimics include rheumatologic diseases (e.g., systemic lupus erythematosus, neuro-Behçet disease), infectious diseases (e.g., HIV, PML, SSPE), and autoimmune conditions (e.g., X-linked CMT, CLIPPERS, GFAP encephalopathy).
• Atypical demyelinating diseases can present with imaging findings suggestive of MS or symptoms like optic neuritis and transverse myelitis, mimicking NMOSD or MOG antibody disorders.

Conclusions:

• Careful patient history and review of atypical MRI findings are crucial for differentiating true demyelinating diseases from mimics.
• Accurate diagnosis is essential to guide appropriate treatment and avoid misdiagnosis.