A 11-year-old boy presented with a 3-year history of a skin rash typical of
juvenile dermatomyositis, and a 2-month history of mild proximal weakness,
myalgia, and weight loss. A quadriceps biopsy showed perifascicular fibre
atrophy, focal necrosis and regeneration, immunohistochemical labelling for
HLA-1 on the surface of the fibres, and focal C5-9 deposition in capillari
es. Macrophages with diastase-resistant. PAS-positive cytoplasm were presen
t. Ultrastructural studies showed electron dense and membranous debris, The
patient's symptoms responded to intravenous immunoglobulin and oral predni
solone. Four months after discontinuing prednisolone, the patient developed
cardiac failure, ventricular tachycardia, and a recurrence of his rash. Th
e 16S ribosomal RNA specific for Tropheryma whippelii was identified by pol
ymerase chain reaction (PCR) analysis in skeletal and cardiac muscle. The m
yalgia and shin rash responded to prednisolone and oral co-trimoxazole, and
the tachycardia is controlled by oral verapamil. This patient appears to h
ave a novel association of juvenile dermatomyositis and Whipple's disease.
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