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A case-based webinar with Dr Carolina Fischinger Moura de Souza (medical geneticist, Porto Alegre, Brazil) sharing real-world mucopolysaccharidosis (MPS) cases — the diagnostic odyssey, the early signs that are missed, and the consequences of delay. For paediatricians and metabolic teams.
With more than 20 years diagnosing MPS, Dr Fischinger frames the disease as a continuum from the severe Hurler form of MPS I (early CNS involvement and multisystem disease) to the attenuated Hurler-Scheie and Scheie forms (later onset, often preserved cognition) — but stresses that even attenuated forms begin in childhood and must be recognised. She sets out the symptoms that should raise suspicion: recurrent upper- and lower-airway infections before one year (otitis, pneumonia, stridor, reduced endurance), umbilical and inguinal hernia (especially together), ENT infections, macroglossia and dental anomalies, cardiomyopathy and valve disease, hepatomegaly, and CNS or cognitive delay. Her cases make the delay vivid: a girl with ENT infections, joint contractures and multiple surgeries who was treated for rheumatoid arthritis and diagnosed with MPS I only at 20 — after glaucoma, corneal opacity, a 19-year odyssey — and who now leads a patient advocacy group; a nine-month-old first investigated for cystic fibrosis, found on genetic evaluation to have coarse face, hepatomegaly and a gibbus, confirmed as severe MPS I and treated with ERT then bone-marrow transplant by two years. A detailed third case — a baby whose only early sign was a thoracolumbar bulge (a gibbus the mother had photographed at four months) — shows how features accumulate over repeated visits (umbilical and inguinal hernia, Mongolian spots, macrocrania, motor delay, coarse face, recurrent infections) before MPS I was finally diagnosed, with the classic imaging (vertebral malformation, J-shaped sella, enlarged perivascular spaces, valve thickening) and marked improvement after ERT. Throughout, Dr Fischinger's refrains are to suspect MPS when multiple unrelated symptoms cluster, to look at the images yourself rather than rely on the radiology report, to remember early clues such as Mongolian spots, gibbus and recurrent infections, and to pursue newborn screening, multidisciplinary care and early ERT to shorten the diagnostic odyssey. She also flags that a normal cardiac examination does not exclude cardiac disease — echocardiography is worthwhile when MPS is suspected.
After viewing this webinar, participants will be able to:
A cluster of multiple, unrelated symptoms across systems, rather than any single sign. Dr Fischinger highlights recurrent upper- and lower-airway infections beginning before one year (otitis, pneumonia, stridor, reduced endurance), umbilical and inguinal hernia — especially when they occur together — ENT infections, macroglossia and dental anomalies, cardiomyopathy and valve disease, hepatomegaly, and cognitive or motor delay. When these accumulate in one child, MPS should be investigated, because individually they mimic common conditions and lead to a long diagnostic odyssey — one of her patients was diagnosed only after 19 years.
Because the report can miss the diagnostic signs. In Dr Fischinger's third case the X-ray was reported only as 'lumbar hyperlordosis with increased intervertebral space, no anatomical abnormalities', yet the image itself clearly showed the vertebral malformation and abnormal thoracolumbar alignment suggestive of MPS I. So she urges clinicians not to accept the radiologist's report at face value but to look at the film — the morphological vertebral changes, the gibbus, the dysostosis multiplex and conical metacarpals are often visible when specifically sought.
No. In one of her cases the cardiac murmur was normal, yet on specific evaluation the valve disease was very severe and the child needed a valve replacement before four years of age. So a normal murmur does not represent the underlying disease. Dr Fischinger's advice is that when MPS is suspected — for example a child with umbilical and inguinal hernia, some developmental delay or mild joint contractures — an echocardiogram should be performed, because it is non-invasive and inexpensive and can reveal significant valve disease that examination misses.
Yes — some very early signs precede the coarse face and joint restriction. Dr Fischinger highlights the gibbus, which can be seen from three to four months of age (in one case the mother had photographed it at four months and repeatedly raised it), along with Mongolian spots, macrocrania, bone dysplasia and recurrent infections, which are common in almost all patients. Features such as umbilical hernia, corneal clouding and hand restriction tend to appear later and accumulate over time — so a subtle early sign like a thoracolumbar bulge deserves attention and imaging rather than reassurance.
This content is intended for healthcare professionals only. The views expressed are those of the presenters and do not necessarily reflect those of Excellence in Pediatrics; their inclusion does not imply endorsement. The content is provided for educational purposes only and does not constitute medical advice or replace independent clinical judgement.