Mucopolysaccharidoses: early diagnostic signs in infants and children
| Autor: | Maja Di Rocco, Cinzia Galimberti, Annalisa Madeo, Agata Fiumara |
|---|---|
| Jazyk: | angličtina |
| Rok vydání: | 2018 |
| Předmět: |
0301 basic medicine
Pediatrics medicine.medical_specialty Early MPS symptoms MPS Mucopolysaccharidosis Disease Review 030105 genetics & heredity Organomegaly 03 medical and health sciences 0302 clinical medicine medicine Humans Preschool Carpal tunnel syndrome Child Recurrent upper respiratory tract infections biology business.industry Coarse facial features Early MPS signs Early-onset MPS Child Preschool Early Diagnosis Infant Mucopolysaccharidoses Pediatrics Perinatology and Child Health lcsh:RJ1-570 lcsh:Pediatrics Gibbus Perinatology and Child Health biology.organism_classification medicine.disease Heart murmur medicine.symptom business 030217 neurology & neurosurgery |
| Zdroj: | Italian Journal of Pediatrics Italian Journal of Pediatrics, Vol 44, Iss S2, Pp 7-16 (2018) |
| ISSN: | 1824-7288 |
| Popis: | Mucopolysaccharidoses (MPS) comprise a group of lysosomal disorders that are characterized by progressive, systemic clinical manifestations and a coarse phenotype. The different types, having clinical, biochemical, and genetic heterogeneity, share key clinical features in varying combinations, including joint and skeletal dysplasia, coarse facial features, corneal clouding, inguinal or abdominal hernias, recurrent upper respiratory tract infections, heart valve disease, carpal tunnel syndrome, and variable neurological involvement. In the severe forms, these features usually appear in the first months of life, but a correct diagnosis is often reached later when suggestive signs are manifest. All MPS types may have severe or attenuated presentations depending on the residual enzymatic activity of the patient. Based on data from the literature and from personal experience, here we underline the very early signs of the severe forms which should alert the paediatrician on their first appearance. A few early signs are typical of MPS (i.e. gibbus) while many are unspecific (hernias, upper airway infections, organomegaly, etc.), and finding the association of many unspecific signs might prompt the paediatrician to search for a common cause and to carefully look for other more specific signs (gibbus and other skeletal deformities, heart murmur). We stress the need to increase awareness of MPS among paediatricians and other specialists to shorten the still existing diagnostic delay. A timely diagnosis is mandatory for the commencement of treatment as soon as possible, when available, to possibly obtain better results. |
| Databáze: | OpenAIRE |
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