What this covers
The mucopolysaccharidoses (MPS) are a group of lysosomal storage disorders that cause progressive, whole-body symptoms and a characteristic coarse appearance. Drawing on the literature and the authors' own experience, this paper highlights the very early signs of the severe forms that should alert paediatricians when they first appear.
Key takeaways
- The different MPS types share key features in varying combinations, including joint and skeletal problems, coarse facial features, corneal clouding, hernias, recurrent upper respiratory infections, heart valve disease, carpal tunnel syndrome and variable neurological involvement.
- A few signs, such as a gibbus (a sharp angular curve of the spine), are typical of MPS, but many others are non-specific, so it is the clustering of several unspecific signs that should prompt a search for a common cause.
- All MPS types can present in severe or attenuated forms depending on how much enzyme activity remains, and in the severe forms the features usually appear within the first months of life.
Why it matters
Greater awareness among paediatricians and other specialists can shorten the diagnostic delay that still exists, allowing treatment to begin as early as possible where it is available.
