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In this detailed and educational webinar, Dr. Susanne Gerit Kircher provides a comprehensive overview of the early clinical signs of Mucopolysaccharidoses (MPS), underscoring the need for heightened clinical suspicion among pediatricians and general practitioners. Drawing on historical and clinical case references, she emphasizes that early recognition and diagnosis are vital to prevent irreversible damage and initiate timely treatment.
Dr. Kircher begins by revisiting the first documented cases of MPS, including the work of Charles Hunter and subsequent researchers in the early 20th century. She explains the term "dysostosis multiplex," which describes characteristic skeletal abnormalities in MPS, such as sclerosis of the skull base, malformed vertebrae, and irregular long bones. These changes are detectable via radiological imaging and often represent the first objective clues in undiagnosed children.
The webinar explores the biological basis of MPS: a group of inherited lysosomal storage disorders caused by deficiencies in one of 11 enzymes required to degrade glycosaminoglycans (GAGs). When any of these enzymes are defective, partially degraded GAGs accumulate in the lysosomes, leading to progressive multisystem damage.
Dr. Kircher systematically outlines the wide range of early signs, stressing their often non-specific nature. These include macrocephaly, frontal bossing, recurrent respiratory infections, snoring, open-mouth breathing, frequent ear infections, hearing loss, inguinal and umbilical hernias, and joint stiffness—particularly in the shoulders and fingers. She notes that although many children may exhibit these symptoms in isolation, their co-occurrence should raise suspicion of MPS.
She proposes grouping MPS into three categories:
Dr. Kircher highlights diagnostic strategies, including enzyme assays, urinary GAG analysis, radiological imaging, and genetic testing. She also explains inheritance patterns—mostly autosomal recessive, with the exception of X-linked MPS II.
The webinar concludes by reinforcing why early diagnosis matters: to avoid irreversible neurological and orthopedic damage, enable early access to hematopoietic stem cell transplantation or enzyme replacement therapy, and improve quality of life. Pediatricians are encouraged to think of MPS when multiple unexplained symptoms appear together.