Abstract
Mucopolysaccharidosis (MPS) is a rare group of inherited lysosomal storage disorders that is associated with multiple symptoms including joint stiffness, misshapen bones, reduced hand function, frequent otitis media, thickened facial features, hearing problems, vision problems and heart complications. We conducted this study to determine how many (if any) children that come to pediatric rheumatology have unrecognized MPS and if routine screening for MPS is needed. A total of 9 patients (four females) who met inclusion criteria for the study (see under Methods) were enrolled and underwent testing. The average age was 12.5 years (range 7-17 years). The most common symptoms (at least experienced by 2 patients or more) included joint stiffness (n=7), headache (n=3), tonsillectomy and adenoidectomy (n=3), myringotomy tubes (n=3), hearing loss (n=3), Raynaud's (n=2), and a positive ANA (n=2). All the 9 patients tested negative for the lysosomal enzymes alpha- Iduronidase, Iduronate-2-sulfatase, Arylsulfatase B and beta- galactosidase as reported by the laboratory's reference ranges.
Highlights
Mucopolysaccharidosis (MPS) is a rare group of inherited lysosomal storage disorders that effects on average 1 in 25,000 live births in the US [1]
Children between the age of 6 months and 18 years who came to the pediatric rheumatology clinic with one “highly suspicious” symptom or at least two “less suspicious” symptoms associated with a MPS disorder were included (Table 1)
The patients were enrolled from a Pediatric Rheumatology outpatient practice at the Rutgers-Robert Wood Johnson University Hospital
Summary
Mucopolysaccharidosis (MPS) is a rare group of inherited lysosomal storage disorders that effects on average 1 in 25,000 live births in the US [1]. To date there are seven identified MPS disorders: MPS I (Hurler, Hurler-Scheie, and Scheie syndromes), MPS II (Hunter syndrome), MPS III (Sanfilippo syndrome), MPS IV (Morquio syndrome), MPS VI (Moroteaux-Lamy syndrome), VII (Sly syndrome) and IX (hyaluronidase deficiency). Some patients will be referred to a pediatric rheumatologist as the first subspecialist to decipher the etiology. Sometimes, these patients may go unrecognized for years before the correct diagnosis is made
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