Mucopolysaccharidosis Misdiagnosis: A Cross-Disciplinary Approach

Jul 23, 2025 18:00

English

Mucopolysaccharidosis

MPS-S7-M2

Early diagnosis of Mucopolysaccharidosis (MPS) can significantly alter the course of the disease by enabling timely treatment that slows progression and improves long-term outcomes. MPS is a complex condition with musculoskeletal, ENT, and cardiac manifestations, making it essential for all pediatric specialists—including general pediatricians—to recognize its diverse symptoms. Greater awareness can reduce diagnostic delays often caused by symptom misinterpretation and inappropriate referrals, helping to shorten the diagnostic odyssey for patients and families.

This webinar is part of our Series 7 educational program offering training on the diagnosis of MPS. It will last 60 minutes and will be delivered by leading experts in the field: Barbara Burton (Chair), Klane White, David Molter, and Elizabeth Braunlin. Participants will gain practical insights into symptom recognition, differential diagnosis, and appropriate referral pathways across specialties.

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Prof. Barbara K Burton

Professor of Pediatrics (Genetics, Genomics and Metabolism)

Northwestern University Feinberg School of Medicine (USA)

Prof. Klane White

Chair of Pediatric Orthopedics at Children’s Hospital Colorado

Professor Department of Orthopedics, University of Colorado School of Medicine (USA)

Prof. David Molter

Professor of Otolaryngology—Head & Neck Surgery

Washington University School of Medicine (USA)

Prof. Elizabeth Braunlin

Professor of Pediatric Cardiology

University of Minnesota, United States

Learning Objectives

Session Structure and Learning Objectives

This session will utilise detailed case studies to highlight how Mucopolysaccharidosis (MPS) symptoms can present across different age groups and affect multiple organ systems. Through these real-world examples, participants will gain a clearer understanding of the diagnostic complexity involved in identifying MPS in clinical practice.

Expert insights will include:

Orthopedic Perspective – Klane White: Differentiating MPS from common orthopedic and joint conditions, and identifying when to suspect a metabolic cause.
ENT Perspective – David Molter: Recognizing MPS through persistent or atypical ear, nose, and throat manifestations that may not respond to conventional treatments.
Cardiology Perspective – Elizabeth Braunlin: Identifying cardiovascular signs of MPS and understanding how they differ from more common pediatric cardiac conditions.

The session will conclude with a moderated discussion led by Metabolic Disorders Specialist Barbara Burton, focusing on accurate symptom recognition, distinguishing MPS from similar conditions, and establishing appropriate and timely referral pathways to minimize diagnostic delays and improve patient outcomes.

The audience will also have the opportunity to ask questions and receive direct responses from the expert panel.

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