Unrecognized Mucopolysaccharidosis I, II, IVA, and VI in the Pediatric Rheumatology Population

Fecha de inicio: 1 de septiembre de 2011

Inclusion Criteria: History of presenting to the pediatric rheumatology, pediatric hand, or skeletal dysplasia clinic with at least ONE "highly suspicious" symptom or at least TWO "less suspicious" symptoms that may be indicative of an MPS disorder (see below): Highly suspicious symptoms: characteristic facial features hearing loss corneal clouding cardiac manifestations dysostosis multiplex hepatosplenomegaly spinal cord compression hydrocephalus carpal tunnel syndrome delayed mental development or regression in mental development Less suspicious symptoms: short stature extensive Mongolian spots sleep apnea copious nasal discharge recurrent otitis media, ear fluid that will not drain, or the presence of ear tubes frequent upper respiratory tract infections joint stiffness or limited range of motion hand problems (Claw hands or reduced hand function) hernia (inguinal or umbilical) abnormally shaped teeth dental cysts tooth abscess Age of at least 6 months. Age under 18 years at time of initial clinic presentation. Written, signed, and dated informed consent obtained from the subject (if 18 years of age) or the subject's parents (if under 18). Written, dated, and signed assent from children is also required at some centers. Exclusion Criteria: Under 6 months of age. Over 18 years of age at initial clinic presentation. Patients who have had confirmation of an MPS disorder by biochemical analysis and/or by molecular biology. Patients for whom MPS enzyme activity tests (i.e., enzyme levels tested in fibroblasts, leukocytes, serum, or blood spots) have already been performed, and for which the result was normal. (Patients who have been screened for MPS through urinary GAG and tested normal will not be excluded from the study.) Written informed consent not available. Subject unwilling or unable to provide the necessary blood spot for analysis. Any other condition that would, in the opinion of the investigator, interfere with the participant's ability to provide informed consent, comply with study instructions, or possibly confound interpretation of study results.