Not All Alpha-Mannosidosis Look Severe: Recognizing Mild and Attenuated Forms in Everyday Pediatric Practice

This webinar addresses the challenge of recognizing Alpha-mannosidosis (AM) when it doesn't look severe. Mild and attenuated presentations are commonly overlooked precisely because they don't appear to warrant suspicion of a rare disease, and false reassurance, fragmented symptom assessment, and the absence of one single defining feature all contribute to late or missed diagnoses. Led by Dr. Karolina Stepien, with a real-world case contributed by Dr. João Durães, the session uses a case example to illustrate the subtle signals that should prompt earlier escalation.

This session focuses on the diagnostic gap that opens up when AM does not follow a textbook pattern — helping clinicians recognize when “watch and wait” is no longer the right call, even in the absence of an obviously severe clinical picture.

Expert presentations cover:

• Welcome and framing (Dr. Karolina Stepien): Why milder forms of AM are the most commonly missed,and an introduction to recent data and emerging evidence on diagnostic delay in mild phenotypes.
• Case presentation (Dr. João Durães): A real-world mild AM case — the presenting features, the timeline ofconsultations, the factors that contributed to diagnostic delay, and the clinical decision points that could haveshortened the pathway.
• Expert panel discussion: Framing the case against the broader published evidence on diagnostic delay inmild AM, and practical guidance on when clinical suspicion should be raised in the absence of a clear syndrome.

The session features:

• Why false reassurance and fragmented symptom assessment delay diagnosis in milder AM phenotypes
• A real-world case study showing exactly where and why the diagnostic pathway stalled
• Published data and evidence on diagnostic delay in mild AM, and how the case reflects wider patterns
• Practical guidance on navigating referral when disease severity is unclear
• What triggers are most useful for frontline clinicians deciding when “watch and wait” should end

This webinar is intended for healthcare professionals only. It is part of the THINK RARE program, which EIP develops and manages independently with respect to content, topics, and speaker selection. EIP seeks unrestricted grants to support its activities; Chiesi Farmaceutici S.p.A. has provided one to partially support EIP's work on early diagnosis of metabolic disorders.