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1.
Artículo en Inglés | IMSEAR | ID: sea-172928

RESUMEN

Fibrodysplasia Ossificans Progressiva (FOP) is an inherited disease in which progressive ossification of striated muscles, tendons, ligaments and other connective tissues forming bridges of extra bones across the joints leads to severe disability and there are associated characteristic congenital skeletal malformations. FOP is also known as Stoneman's syndrome. The case we report here is a 23-year-old male with the clinical and radiologic characteristics of FOP.

2.
Indian J Med Sci ; 2012 Mar-Apr; 66(3) 78-81
Artículo en Inglés | IMSEAR | ID: sea-147822

RESUMEN

Familial hypercholesterolemia is a single gene disorder. It has autosomal dominant pattern of inheritance. We report a 28-year-old man who presented with acute myocardial infarction. He had xanthomas and an elevated serum low density lipoprotein cholesterol (LDL-C). His only sibling, 32-year-old brother have similar cutaneous lesions and lipid profile. His mother and maternal uncle died at a young age due to myocardial infarction. This report is to emphasize the need to clinically recognize xanthomas and its familial inheritance with elevated LDL-C, premature atherosclerosis. Early diagnosis and early initiation of treatment will save the affected individual and the other family members.

3.
Artículo en Inglés | IMSEAR | ID: sea-172754

RESUMEN

We report a case of cat scratch disease in a young boy who presented in the outpatient department of Enam Medical College Hospital, Savar, Dhaka with history of cat scratch and regional painful lymphadenopathy. The diagnosis was made on the basis of history, physical examination and common investigations including lymph node aspiration cytology.

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