Kocher-Debre-Semelaigne syndrome
Encyclopedia
The Kocher-Debré-Semelaigne syndrome is a (myopathy) of hypothyroidism
Hypothyroidism
Hypothyroidism is a condition in which the thyroid gland does not make enough thyroid hormone.Iodine deficiency is the most common cause of hypothyroidism worldwide but it can be caused by other causes such as several conditions of the thyroid gland or, less commonly, the pituitary gland or...

 in infancy or childhood characterised by lower extremity or generalized muscular hypertrophy, myxoedema, short stature and cretinism
Cretinism
Cretinism is a condition of severely stunted physical and mental growth due to untreated congenital deficiency of thyroid hormones usually due to maternal hypothyroidism.-Etymology and use of cretin:...

. The absence of painful spasms and pseudomyotonia differentiates this syndrome from Hoffmann syndrome.

The syndrome is named after Emil Theodor Kocher
Emil Theodor Kocher
Emil Theodor Kocher was a Swiss physician, medical researcher, and Nobel laureate for his work in the physiology, pathology and surgery of the thyroid....

, Robert Debré
Robert Debré
Robert Debré was a French physician at Necker-Enfants Malades Hospital in Paris.He gave his name to the most important ....

and Georges Semelaigne.

Also known as Debre-Semelaigne syndrome or cretinism-muscular hypertrophy, hypothyroid myopathy, hypothyroidism-large muscle syndrome, hypothyreotic muscular hypertrophy in children, infantile myxoedema-muscular hypertrophy, myopathy-myxoedema syndrome, myxoedema-muscular hypertrophy syndrome, myxoedema-myotonic dystrophy syndrome.
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