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In this highly practical and insightful webinar, Dr. Dafne Horovitz presents a series of real-life case studies to illustrate how misdiagnosis or delayed diagnosis of mucopolysaccharidosis (MPS) often occurs, and how it can be avoided. Aimed at pediatricians and general practitioners, the session reinforces the importance of clinical suspicion and a multidisciplinary approach.
Dr. Horovitz begins by reviewing several patient cases with varied presentations—ranging from respiratory infections and hernias to joint restriction and delayed growth. Each case underscores how MPS can initially mimic common pediatric conditions, such as allergies, asthma, or growth delay, and how red flags are often missed. Early signs such as coarse facial features, recurrent infections, claw hands, and skeletal abnormalities (visible in X-rays) are often present but overlooked.
She emphasizes the concept of “too many symptoms for one child” as a powerful diagnostic clue. When patients present with multiple, unrelated symptoms across different systems—ENT issues, orthopedic problems, developmental delays—clinicians should broaden their differential diagnosis to include rare genetic disorders like MPS.
Radiological features, such as dysostosis multiplex and petal-shaped ribs, are repeatedly shown as key diagnostic clues. She urges pediatricians to look beyond lung fields when reviewing chest X-rays and assess the bones for subtle but telling signs.
Dr. Horovitz explains that diagnosis should be confirmed with urinary glycosaminoglycan (GAG) testing, enzyme activity assays, and genetic analysis. While newborn screening and genetic panels are increasingly available, she stresses that enzyme activity remains the gold standard for diagnosis.
The presentation also highlights how early diagnosis and initiation of enzyme replacement therapy (ERT), and in some cases hematopoietic stem cell transplantation (HSCT), can significantly improve outcomes. Dr. Horovitz presents follow-up data showing clinical improvements in mobility, respiratory health, and developmental progress in patients diagnosed and treated early.
She concludes by advocating for heightened pediatric awareness of rare diseases. Family history, consanguinity, and the presence of multiple red flags should prompt immediate referral to a specialist. Even subtle signs like persistent infections or short stature should not be dismissed, especially when combined with joint or skeletal abnormalities.
The final message is clear: early diagnosis not only enables effective treatment but dramatically improves quality of life. Pediatricians are often the first—and sometimes only—line of defense in spotting these conditions early.