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March 2012 Volume-9 Issue-3 [Supplement 3]
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Pediatric Oncall
 
March 2012 Volume-9 Issue-3 [Supplement 3]
(ISSN - 0973-0958)
 
DIAGNOSTIC DILEMMA
Naji Ahmed
A 12 year old girl born of consanguineous marriage, presented with tachypnea, easy fatigability, abdominal distention of 3 weeks duration. She has past history of progressive generalized muscle weakness of mild severity since 3 years of age associated with contracture of small joints of both hands. She has older brother 16 years old of age who also has progressive generalized muscle weakness associated with contracture of joints especially of lower legs and scoliosis. Thyroid function test : picture suggestive of hypothyroidism. EMG study : consistent with chronic, diffuse, non-inflammatory, non-dystrophic myopathic process of mild to moderate severity.
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