Mucopolysaccharidosis type 2

A lysosomal storage disease with multisystemic involvement leading to a massive accumulation of glycosaminoglycans and a wide variety of symptoms including distinctive coarse facial features, short stature, cardio-respiratory involvement and skeletal abnormalities. It manifests as a continuum varying from a severe form with neurodegeneration to an attenuated form without neuronal involvement.

Dyspnea

Difficult or labored breathing.


Total: 1

                      


(per page)
PMID (PMCID)
21319059
MALE Young Adult
Three-dimensional CT and histopathological findings of airway malacia in Hunter syndrome.
Nagano R, Takizawa S, Hayama N, Umemura S, Uesugi T, Nakagawa S, Okamoto S, Yanagimachi N, Takagi S.
Tokai J Exp Clin Med. 2007;32(2):59-61.
A 19-year-old man with known Hunter syndrome presented with dyspnea, and was admitted to our hospital.