Purpose or Case Report: The mucopolysaccharoidoses are a varied group of lysosomal storage diseases, uncommon in the general population. The accumulation of gylcosaminoglycans throughout the patient’s body leads to a variety of clinical and imaging manifestations. The osseous finding of these patients are well documented on radiography; however, to our knowledge, the soft tissue imaging findings of these patients have not been previously described. Therefore, the aim of this educational exhibit is to elucidate the soft tissue imaging findings of large joints, focusing on patients with Mucopolysaccharoidsis Type I (MPS I).
Methods & Materials: We performed a computerize text search of the imaging database at a large tertiary care children’s hospital over a 10.5 year period, to identify reports of joint MRIs containing the following keywords: mucopolysaccharidosis, hunter, hurler, filippo, morquio, maroteaux, lamy, sly, and hyaluronidase. From this list of candidate MRIs, we isolated those with a diagnosis of MPS I. The MRIs from this study cohort were reviewed by an MSK pediatric radiology fellow and an MSK trained Pediatric Radiologist with 12 years of experience. We reported the unique soft tissue findings identified on these joint MRIs.
Results: Seven different patients with MPS I/Hurler were identified. These patients had a total of 19 different joints imaged: 12 hips, 5 knees, 1 shoulder, and 1 foot. Many of these joints were imaged at multiple time points. Common soft tissue imaging manifestations include marked joint capsular thickening, fibroligamentous thickening (labrum and menisci), and tendon and ligamentous thickening. Representative images from our review are presented for an educational exhibit.
Conclusions: After reviewing this educational exhibit, the radiologist should have increased knowledge and familiarity of the soft tissue joint findings in patients with MPS I. This learned knowledge will enable radiologists to better identify and report on the pertinent soft tissue findings in the large joints of patients with MPS I.