907 - Left Hip Pain Concomitant With Bilateral Congenital Acetabular Dysplasia and Mucopolysaccharidosis Type II (MPS II)

A 28-year-old male with a history of Mucopolysaccharidosis Type II (MPS II), bilateral congenital acetabular dysplasia, left knee osteoarthritis, bilateral Carpal tunnel syndrome, and bilateral median neuropathy presented to PM&R for left hip pain. The patient's manifestations of MPS II include various cardiac disorders, chronic lumbar spine pain, and unequal limb length. The patient experienced chronic bilateral hip pain that progressed significantly in his left hip, localized to the superolateral area. His pain worsened with sitting, walking, and rotational hip movements.

Hip and pelvis x-rays supported the diagnosis of bilateral acetabular dysplasia with flattening and deformity of the femoral heads, along with findings suggestive of left-sided avascular necrosis. The patient's management included referral to orthopedics for potential joint replacement, continuation of massage therapy emphasizing the tensor fasciae latae muscle, and initiation of physical therapy to improve mobility.

Discussions: MPS II is an X-linked recessive lysosomal storage disorder (iduronate-2-sulfatase deficiency), known as Hunter syndrome, primarily affecting males. Age of symptom onset is dependent on disease severity. MPS II is associated with hip migration, femoral head dysplasia, varying levels of acetabular dysplasia, and chronic osteoarthropathy. Musculoskeletal abnormalities are due to the buildup of heparan and dermatan sulfates within the musculoskeletal system, with emphasis on the hip joint. The musculoskeletal and neuromuscular abnormalities experienced by this patient from adolescence to adulthood, including bilateral acetabular dysplasia, Carpal tunnel syndrome, knee osteoarthritis, and median neuropathy, have significantly affected the patient’s quality of life and mobility.

Conclusions: MPS II is a complex genetic disorder with variable manifestations throughout patients’ lives. Given the association between MPS II and musculoskeletal disorders, evaluation for neuromuscular and musculoskeletal conditions, such as Carpal tunnel syndrome and acetabular dysplasia, should be considered early and often following primary diagnosis to preserve mobility, quality of life, and function.