4th Pediatric Infectious Diseases Conference
 
 
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Autoimmune Disorder
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Specialist Answers
Question
12 year old female presented with generalized joint contractures including inability to open mouth fully and generalized muscle wasting which has developed over the last 3 years, prior to which she was absolutely normal. Facial appearance has a puckered look with tight skin. Her fingers and toes show features of arachnodactyl. No h/o Raynauds phenomenon. No h/o dysphagia. No abnormal perinatal events. No h/o delayed mile stones. Bowel, micturition-normal. Investigations revealed atlanto axial subluxation.CXR NORMAL.USG abdomen normal.ESR 65MM.RA FACTOR -VE.ANA+VE.No Facilities at our center to investigate further. What could be the diagnosis and how to start treatment.
Answer
One should rule out scleroderma and juvenile dermatomyositis (JDMS) and also SLE. At least a dsDNA, CPK and MRI of the muscles would be useful. IF dsDNA positive, it is suggestive of SLE. If negative, think of JDMS especially if CPK high. Treatment would consist of steroids in SLE. For JDMS, along with steroids, one may require methotrexate.
 
 
 
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