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In this in-depth and visually rich webinar, Dr. Christina Lampe shares a wide range of case studies illustrating the clinical complexity of mucopolysaccharidoses (MPS) and the vital importance of early recognition, multidisciplinary collaboration, and timely referral. She draws on over two decades of clinical experience and emphasizes practical lessons for pediatricians and specialists alike.
Dr. Lampe begins by classifying MPS into two main categories based on joint presentation: the "stiff" types (MPS I, II, VI, and VII) and the "hypermobile" types (MPS IVa and IVb). She emphasizes that MPS is a multisystemic disease affecting multiple organ systems, often in highly individual patterns, making diagnosis particularly challenging—especially in attenuated or non-classical cases.
Through a series of detailed case presentations—including photos and developmental timelines—Dr. Lampe highlights common early signs that frequently go unrecognized:
Each case demonstrates how these early, non-specific symptoms can lead to delayed diagnosis—sometimes by a decade or more. She underscores that many MPS patients are misdiagnosed with more common conditions such as juvenile arthritis, developmental delay, or clumsy gait, often resulting in prolonged symptomatic treatment without addressing the underlying cause.
Dr. Lampe also discusses diagnostic tools including urinary glycosaminoglycan (GAG) testing, enzyme assays, and genetic testing. She urges caution in interpreting negative urinary GAG results, especially in attenuated MPS forms where levels may be normal.
Particularly moving are comparisons of siblings with the same MPS subtype but diagnosed and treated at different times—clearly showing how early diagnosis leads to significantly better clinical outcomes.
She presents cases of both classical and non-classical MPS IVa (Morquio syndrome), emphasizing the diagnostic difficulty when joint hypermobility masks skeletal deformities. Radiological clues such as dysostosis multiplex or abnormal vertebral shapes are often the key to diagnosis.
In her final example, she discusses a boy initially suspected of having MPS, who was ultimately diagnosed with alpha-mannosidosis—a lysosomal disorder with many overlapping features. This reinforces the need for thorough metabolic testing and broad differential diagnosis.
Dr. Lampe concludes by promoting a structured approach using “Consider MPS” tools and diagnostic algorithms. Her message is clear: with heightened awareness, earlier testing, and faster referrals, clinicians can dramatically improve the lives of children with MPS and related disorders.