Kocher-Debre-Semelaigne syndrome: a case report.
BACKGROUND
Kocher-Debre-Semelaigne (KDS) syndrome is a myopathy of hypothyroidism associated with pseudohypertrophy in infancy or childhood. There are few reported cases of KDS syndrome in the literature.


METHODS
We present a 5-year-old boy with poor growth and delayed dental and motor development. There was no family history. On examination he had coarse facies, large protruding tongue, athletic build, short stature and mental retardation. The diagnosis of KDS syndrome was based on laboratory and radiologic evidence of congenital hypothyroidism and muscle enlargement. He was started on L-thyroxine at the dose of 4ug/kg/day, and he has shown marked increase in alertness with regressing muscle bulk after 4 weeks of treatment. A short review of the literature is also presented.
Anochie
Ifeoma C
IC
Department of Pediatrics, University of Port Harcourt, Rivers State, Nigeria. anochieify@hotmail.com
Otaigbe
Barbara E
BE
D000015:Abnormalities, Multiple; D002675:Child, Preschool; D003248:Constipation / Q000209:etiology; D005269:Femur / Q000002:abnormalities*; D006801:Humans; D006984:Hypertrophy; D007037:Hypothyroidism / Q000150:complications / Q000188:drug therapy; D008297:Male; D009135:Muscular Diseases / Q000188:drug therapy; D013577:Syndrome; D013974:Thyroxine / Q000627:therapeutic use*
D013974:Thyroxine