Kocher-Debre-Semelaigne syndrome: hypothyroidism with muscle pseudohypertrophy.
Kocher-Debre-Semelaigne syndrome is a rare association of muscular pseudohypertrophy and hypothyroidism in children. We report two cases of this syndrome in this communication. The first case was a seven-years-old female who presented with features of hypothyroidism and muscle pseudohypertrophy. The second child had similar manifestations but was only fifteen months of age at diagnosis. This is one of the youngest patients reported to have the Kocher-Debre-Semelaigne syndrome. A short review of the literature is also presented.
D000365:Age Determination by Skeleton; D002648:Child; D005260:Female; D006801:Humans; D006984:Hypertrophy; D007037:Hypothyroidism / Q000097:blood / Q000175:diagnosis* / Q000188:drug therapy; D007223:Infant; D008297:Male; D018482:Muscle, Skeletal / Q000503:physiopathology; D009135:Muscular Diseases / Q000097:blood / Q000175:diagnosis* / Q000188:drug therapy; D013577:Syndrome; D013961:Thyroid Gland / Q000000981:diagnostic imaging; D013963:Thyroid Hormones / Q000097:blood; D013974:Thyroxine / Q000627:therapeutic use; D016896:Treatment Outcome; D014463:Ultrasonography
D013963:Thyroid Hormones; D013974:Thyroxine