Kocher-Debré-Semelaigne syndrome

Kocher-Debré-Semelaigne syndrome is a rare disease with long-lasting hypothyroidism that causes pseudohy- trophy of the muscles.

The disease usually manifests itself between the ages of 18 months and 10 years. Typical symptoms of hypothyroidism include decreased activity, feeding problems, constipation, increased sleep, icterus prolongatus, a myxedematous face, macroglossia, umbilical hernias, hypotonia associated with muscular pseudo-hypertrophy, distended abdomen, and large fontanelles.

Pseudohypertrophy affects the muscles of the extremities, limb, trunk, and hands and feet.

The cause of the disease is unknown but is thought to be due to prolonged hypothyroidism. This deficiency of thyroid hormones may be congenitally permanent or transient.