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A 4-year old male with proportionate dwarfism secondary to an autosomal recessive mutation resulting in L-alpha iduronidase deficiency.
8%
175/2162
A 5-year old male with proportionate dwarfism secondary to an X-linked recessive mutation resulting in sulpho-iduronate-sulphatase deficiency
11%
248/2162
A 6-year old female with 2 months of persistent left knee swelling and associated stiffness, intermittent fever, and elevated ESR.
41%
884/2162
A 7-year old male with developmental delay, dolichostenomelia, and positive urine nitroprusside test secondary to a cystathionine b-synthase deficiency.
16%
356/2162
A 10-year old developmentally normal male with dolichostenomelia, generalized ligamentous laxity, and pecrus carinatum.
22%
474/2162
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Urgent ophthalmology consultation for slit lamp examination is warranted for the 6-year-old patient with juvenile idiopathic arthritis (JIA) in order to rule out anterior uveitis. Ocular involvement in the disease process may lead to rapid and irreversible vision loss if not caught and appropriately treated early. JIA is characterized by persistent arthritis in any individual joint for ≥6 weeks. The diagnosis of JIA is one of exclusion and requires onset of symptoms by age 16. The most common subtype of JIA is oligoarticular JIA, which typically presents in females between 1-3 years of age, most often as morning stiffness and a relatively painless limp. The knee is most often affected. Uveitis is a common systemic manifestation of the disease process, and is most often asymptomatic, with up to 30% of patients experiencing loss of vision. This can be mitigated by early detection via slit lamp examination and subsequent ophthalmologic intervention. Punaro reviews the presentation and orthoapedic manifestations of JIA. The authors note that while the diagnosis may be difficult due to the nonspecific presentation, early ophthalmologic evaluation is important for detection and treatment of ocular manifestations of the disease. The Sherry article provides an overview of new treatment methods including intraarticular joint injections of methotrexate and etanercept, which have produced giant leaps in the treatment of the associated joint inflammation and resultant destruction. Incorrect answers: Answer 1: This patient presents with Hurler syndrome, and while corneal clouding is characteristic, the process is due to glycosaminoglycan infiltration of the cornea and cannot be mitigated by ophthalmologic intervention. Answer 2: This patient presents with Hunter syndrome, which may sometimes present with mild corneal clouding similar to Hurler syndrome, but is more often associated with clear corneas. Answer 4: This patient presents with homocysteinuria. Although inferior lens dislocation is common, this is not an urgent diagnosis and does not result in irreversible blindness. Ophthalmologic intervention cannot prevent but is required to treat this complication. Answer 5: This patient presents with Marfan's syndrome. Superior lens dislocation is common with this pathology, but similar to homocysteinuria, this is not an urgent diagnosis and cannot be prevented by early ophthalmologic evaluation.
3.1
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