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In this expert-led session, Dr. Christina Lampe and Prof. Barbara Burton present a detailed case-based discussion on the early detection of mucopolysaccharidoses (MPS), emphasizing how variability in presentation can lead to frequent misdiagnoses and delays in treatment. Through three illustrative case studies, they highlight the importance of recognizing subtle red flags early.
Dr. Lampe begins by reviewing the heterogeneity of MPS, explaining how different subtypes (e.g., MPS I, II, III, IV, VI) show distinct patterns—ranging from joint stiffness and skeletal anomalies to neurocognitive decline. The challenge is compounded by symptoms such as recurrent infections, hernias, and developmental delays that mimic more common pediatric conditions. Diagnostic delays average three years.
The first case involves a girl diagnosed with MPS I (Hurler syndrome) at 16 months, despite early signs including heart defects, macrocephaly, developmental delay, and hernias. Dr. Lampe emphasizes that multiple symptoms across organ systems should prompt early metabolic testing and referral.
The second case features a boy with severe neuropathic MPS II (Hunter syndrome), initially presenting with joint stiffness, infections, and language delay. Cognitive and behavioral decline appeared by age four, including impulsivity, incontinence, and loss of motor skills. Despite early symptoms, diagnosis occurred at 2.5 years, highlighting a need for increased pediatric vigilance.
Prof. Burton presents a girl misdiagnosed with spondyloepiphyseal dysplasia. Only after additional findings—corneal clouding, hearing loss, joint restriction, and coarse facial features—was she correctly diagnosed with MPS VI via enzyme and genetic testing. Another case involved a boy initially diagnosed with bilateral Legg-Calvé-Perthes disease. Only after years of orthopedic evaluations and hip surgeries was he found to have MPS IVA (Morquio A), confirmed through gene panel testing. Both cases underline the overlap between MPS and skeletal dysplasias.
The discussion also explores the pitfalls of relying solely on radiology or urinary GAG testing, especially in attenuated forms like MPS IVA, where GAG levels may appear normal. Newborn screening and comprehensive gene panels are increasingly vital for early diagnosis.
The session concludes by stressing the role of pediatricians, geneticists, orthopedists, and endocrinologists in maintaining suspicion and ordering molecular testing. Early diagnosis not only improves clinical outcomes through timely treatment but also ensures safer surgical planning and appropriate family counseling.