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In this case-based and educational session, Dr. Carolina Fischinger Moura de Souza shares her extensive experience diagnosing mucopolysaccharidosis (MPS). She focuses on real-world examples that demonstrate the challenges of early detection and the consequences of delayed diagnosis. With more than 20 years of working with rare diseases and lysosomal disorders, Dr. Fischinger highlights how a pattern of multi-systemic symptoms should prompt immediate investigation for MPS.
She begins by explaining the variability in clinical presentations of MPS I, ranging from the severe Hurler form (with early CNS involvement and multisystem disease) to attenuated Scheie forms, where symptoms appear later and cognitive function is often preserved. Through a series of case studies, she demonstrates how early signs are frequently overlooked or misattributed to more common conditions.
One case describes a girl with early ENT infections, joint contractures, and multiple surgeries who went undiagnosed for nearly two decades. Despite exhibiting hallmark signs—inguinal hernia, skeletal pain, corneal clouding, and short stature—she was treated for juvenile rheumatoid arthritis and only received a correct diagnosis of MPS I at age 20. She eventually joined a clinical trial for enzyme replacement therapy (ERT) and later underwent corneal transplantation and carpal tunnel surgery.
In another case, a nine-month-old with recurrent bronchitis and pneumonia was initially investigated for cystic fibrosis. Genetic evaluation revealed coarse facial features, hepatomegaly, and gibbous deformity. Enzyme testing confirmed a severe form of MPS I, and the child received ERT followed by bone marrow transplantation by age two.
A third case involves a toddler with a subtle spinal bulge, eventually diagnosed with MPS I after imaging revealed vertebral anomalies and clinical features accumulated over time—inguinal hernia, macrocrania, motor delay, and recurrent respiratory infections. After ERT initiation, notable improvements in respiratory symptoms and physical activity were observed.
Dr. Fischinger emphasizes that MPS should be suspected when multiple, unrelated symptoms occur—such as hernias, frequent infections, skeletal abnormalities, and delayed milestones. She urges pediatricians not to rely solely on radiology reports but to examine images themselves and consider specialist referral early. She concludes by stressing the value of newborn screening, multidisciplinary collaboration, and early ERT to alter the course of disease and reduce diagnostic odysseys.