Kocher-Debre-Semelaigne syndrome


Kocher Debre Semelaigne disease (medical condition): A rare condition characterized by pseudohypertrophy of muscles that occurs in patients with hypothyroidism.


* Cretinism * Stiff large muscles * Discomfort in large muscles * Painful movement * Muscles slow to contract * Slow gait * Clumsy gait * Paramyotonia * Speaking difficulty * Enlarged tongue * Weak muscles * Muscles slow to relax


Hypothyroidism results from inadequate production of thyroid hormone — usually because of dysfunction of the thyroid gland due to surgery (thyroidectomy), irradiation therapy (particularly with 131I), inflammation, chronic autoimmune thyroiditis (Hashimoto’s disease) or, rarely, conditions such as amyloidosis and sarcoidosis. It may also result from pituitary failure to produce thyroid-stimulating hormone (TSH), hypothalamic failure to produce thyrotropin-releasing hormone, inborn errors of thyroid hormone synthesis, the inability to synthesize thyroid hormone because of iodine deficiency (usually dietary), or the use of antithyroid medications such as propylthiouracil. In patients with hypothyroidism, infection, exposure to cold, and sedatives may precipitate myxedema coma. Hypothyroidism is more prevalent in females than males, and frequency increases with age; in the United States, incidence is rising significantly in people ages 40 to 50.


Therapy for hypothyroidism consists of gradual thyroid replacement with levothyroxine (for low T4 levels) and, occasionally, liothyronine (for inadequate T3 levels). During myxedema coma, effective treatment supports vital functions while restoring euthyroidism. To support blood pressure and pulse rate, treatment includes I.V. administration of levothyroxine and hydrocortisone to correct possible pituitary or adrenal insufficiency. Hypoventilation requires oxygenation and respiratory support. Other supportive measures include fluid replacement and antibiotics for infection.