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A 60-minute cross-disciplinary webinar with Prof. Barbara Burton (metabolic disorders, Chicago), Dr Klane White (paediatric orthopaedics, Children's Hospital Colorado), Dr David Molter (ENT, Washington University, St Louis) and Dr Elizabeth Braunlin (paediatric cardiology, University of Minnesota) on recognising mucopolysaccharidosis (MPS) through its musculoskeletal, ENT and cardiac signs — and avoiding misdiagnosis. For paediatricians and primary-care professionals.
Because MPS is multisystem and not obvious at birth, it is often recognised — or missed — by the specialists who see its individual features, so this session takes an orthopaedic, ENT and cardiac view. Dr Klane White explains the skeletal picture: short-trunk short stature, and the two commonest orthopaedic referrals — a thoracolumbar kyphosis or gibbus from anterior vertebral-body hypoplasia, and a hip that is read as bilateral Perthes disease. He advocates a skeletal survey and the pattern of dysostosis multiplex (flattened vertebrae, shallow sella turcica, tapered metacarpals, acetabular dysplasia, genu valgum), while cautioning that X-rays overlap with non-metabolic dysplasias and can be normal — so any suspicion warrants enzyme or molecular testing. Dr David Molter shows why ENT specialists see these children early and often: GAG accumulation causes recurrent otitis media, a hearing loss that evolves from conductive to mixed to sensorineural, adenotonsillar hypertrophy, obstructive sleep apnoea, and airway changes — and he stresses the anaesthetic danger, urging that MPS patients be operated on only in fully equipped hospital settings. Dr Elizabeth Braunlin sets out the cardiac findings, best detected by echocardiography (physical examination is usually unrewarding, as murmurs are often absent): normal anatomy but three key findings — decreased ventricular function in young infants (about a third of screened newborns, and reversible with enzyme replacement therapy, which must precede transplant or anaesthesia), thickened and regurgitant valves in older infants and children, and valve stenosis plus aortic-root dilation in adolescents and adults. She recommends echocardiography at diagnosis and annual cardiac follow-up including an ECG for the PR interval, warning of the risk of heart block under anaesthesia. Moderated by Prof. Barbara Burton, the panel converges on recognising the cross-disciplinary clues, distinguishing MPS from look-alikes, and timely referral to minimise diagnostic delay.
After viewing this webinar, participants will be able to:
Short-trunk short stature, and the two commonest orthopaedic referrals: a thoracolumbar kyphosis or gibbus (a 'bump on the back' from anterior vertebral-body hypoplasia) and a hip abnormality read as bilateral Legg-Calvé-Perthes disease. A skeletal survey showing the pattern of dysostosis multiplex — flattened vertebrae, a shallow sella turcica, tapered metacarpals, acetabular dysplasia and genu valgum — supports the diagnosis, but X-rays overlap with non-metabolic dysplasias and can be normal, so any suspicion should be confirmed with enzyme or molecular testing.
Because GAG accumulation in the head and neck causes recurrent otitis media, adenotonsillar hypertrophy, obstructive sleep apnoea, and a hearing loss that evolves from conductive to mixed to sensorineural — so these children have tubes, adenoidectomy and tonsillectomy early and often, and ENT leads the specialties requiring anaesthesia. The anaesthetic concern is a difficult airway (large tongue, distorted trachea, limited mandible and cervical movement), which has led to deaths during otherwise routine surgery — so MPS patients should be operated on only in fully equipped hospital settings, not outpatient centres.
By echocardiography, because physical examination is usually unrewarding (murmurs are often absent or hard to hear). Anatomy is normal, but there are three key findings that evolve with age: decreased ventricular function in young infants (about a third of screened newborns), thickened and regurgitant valves in older infants and children, and valve stenosis plus aortic-root dilation in adolescents and adults. Coronary-artery disease can be present but is not seen on echo.
An echocardiogram at diagnosis — important because a third of infants have decreased function that must be improved (with enzyme replacement therapy) before they can safely undergo bone-marrow transplant or anaesthesia — and annual cardiac follow-up with echo and an ECG. The ECG matters because GAG deposition in the conduction system can prolong the PR interval and, under anaesthesia, progress to advanced heart block, with reports of deaths during procedures. Valve disease and aortic dilation do not reverse with current therapies, but early treatment of infant dysfunction can delay more serious valve problems.
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.