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 CASE REPORT
Year : 2007  |  Volume : 61  |  Issue : 9  |  Page : 527-530

Kocher-debre-semelaigne syndrome with pericardial effusion


Department of Pediatrics, Seth G.S. Medical College and K.E.M. Hospital, Parel, Mumbai, India

Correspondence Address:
Milind S Tullu
'Sankalp Siddhi', Block No. 1, Ground Floor, Service Road, Kher Nagar, Bandra (East), Mumbai - 400 051, Maharashtra
India
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DOI: 10.4103/0019-5359.34522

PMID: 17785889

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We report a 10-year-old female child with hypothyroidism and limb muscle pseudohypertrophy (i.e., Kocher-Debre-Semelaigne syndrome) with pericardial effusion. The child presented with generalized swelling, breathlessness and difficulty in walking and in getting up from sitting position (of chronic duration). She had bradycardia, dull facies, marked hypertrophy of both calf muscles and nonpitting edema of legs. Pericardial effusion was detected clinically and confirmed on investigations. Muscle pseudohypertrophy was a striking feature, and hypothyroidism was confirmed on thyroid studies. The response to thyroxine replacement was excellent, with resolution of the pericardial effusion and clinical improvement. The unusual presence of pericardial effusion in Kocher-Debre-Semelaigne syndrome is discussed in the report.






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