Masquerades of acquired demyelination in children: experiences of a national demyelinating disease program

Area of Science:

• Pediatric Neurology
• Neuroimmunology
• Central Nervous System Disorders

Background:

• Acquired demyelinating syndromes (ADS) in children necessitate differential diagnosis from various acute central nervous system (CNS) conditions.
• Accurate diagnosis is crucial for appropriate management and prognosis.

Purpose of the Study:

• To identify clinical, laboratory, and magnetic resonance imaging (MRI) red flags that distinguish ADS from other acute CNS disorders in children.
• To describe the spectrum of non-demyelinating disorders mimicking ADS in a pediatric cohort.

Main Methods:

• Prospective data collection from a 23-site national demyelinating disease study.
• Standardized collection of clinical, laboratory, and serial MRI data from symptom onset.
• Systematic review of diagnoses in children initially suspected of having demyelinating conditions.

Main Results:

• Out of 332 participants, 20 (6%) were diagnosed with non-demyelinating disorders.
• These included vascular disorders (n=11), CNS malignancy (n=3), mitochondrial disease (n=2), and CNS symptoms with infection (n=4).
• Specific red flags were identified to aid in distinguishing these conditions.

Conclusions:

• A significant proportion of children evaluated for demyelinating syndromes have alternative diagnoses.
• Recognizing specific red flags is essential for accurate diagnosis and exclusion of mimics.
• This aids in appropriate management of pediatric acute CNS disorders.