The Child Who Keeps Coming Back: Recognizing Alpha-Mannosidosis Behind Recurrent ENT Infections, Hearing Loss, and Developmental Concerns

This webinar addresses the challenge of recognizing Alpha-mannosidosis (AM) behind presentations that frontline pediatricians see every day — recurrent ENT infections, hearing difficulties, and developmental concerns — which are common and non-specific enough that they are often managed in isolation across specialties, contributing to significant diagnostic delay. Led by Moderator Dr. Cláudia Falcão Reis and Prof. Mehmet Umut Akyol, the session equips clinicians with practical pattern- recognition skills to identify when a routine, recurring presentation may in fact be part of a broader multisystem disorder, and to escalate to metabolic referral earlier.

This session examines AM through the lens of the “child who keeps coming back” — the pattern of repeated ENT, audiological, and developmental concerns that, considered together rather than in isolation, should raise suspicion of a rare metabolic disease. The webinar combines a case-based walkthrough of the diagnostic journey with a focused ENT and audiological perspective, closing with practical guidance on when to escalate to metabolic referral.

Expert presentations cover:

• The diagnostic journey in AM (Dr. Cláudia Falcão Reis): How recurrent ENT infections, hearing loss, and developmental delay can appear well before diagnosis; the key red flags that are often missed; a case-based walkthrough of how symptoms get fragmented across visits and specialties; and what confirming the diagnosis and clarifying the referral pathway looks like in practice.

• The ENT and audiological perspective (Prof. Mehmet Umut Akyol): Which examination and audiometry findings should trigger metabolic referral, and how to distinguish routine ENT problems from a pattern that warrants further investigation.

• Expert panel discussion: Connecting ENT, developmental, and functional concerns across care settings, with practical tools and decision points for frontline clinicians.

The session features:

• Why recurrent, common presentations (ENT infections, hearing loss, developmental delay) are often managed in isolation rather than connected as a single clinical picture

• Which ENT and audiometry findings should prompt a clinician to think beyond a routine diagnosis

• A real-world case illustrating how symptoms were fragmented across specialties before diagnosis

• Practical tools and decision points to help frontline clinicians build suspicion earlier and refer sooner

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.