Kocher-Debré-SéMéLaigne Syndrome

Congenital infantile disorder characterized by hypothyroidism with myxedema, muscular hypertrophy, short stature, macroglossia, cretinism, and mental retardation.

Brissaud Syndrome I; Cretinism Muscular Hypertrophy Syndrome; Hypothyroid Myopathy; Hypothyroidism-Large Muscle Syndrome; Hypothyreotic Muscular Hypertrophy of Childhood; Infantile Myxedema-Muscular Hypertrophy; Myopathy-Myxedema Syndrome; Myxedema-Muscular Hypertrophy Syndrome; Myxedema-Myotonic Dystrophy Syndrome.

This syndrome is named after the famous Swiss surgeon and Nobel Prize winner Emil Theodor Kocher (1841-1917) and the two French pediatricians, Robert Debré (1882-1978) and Georges Sémélaigne (born 1892).

Usually sporadic. Has also been associated with autosomal recessive inheritance.

Caused by a deficiency of iodotyrosine deaminase with subsequent leakage of iodotyrosine into the circulation and failure of iodine recirculation into the thyroid gland resulting in loss of iodine, initiating a vicious circle of thyroid stimulation, hyperplasia, goiter, and increased synthesis and leakage of hormone precursors.

Muscular pseudohypertrophy particularly involves the muscles of the extremities, leading to a “Herculean" appearance of these patients. The term pseudohypertrophy is preferred since histological examination of the affected muscles shows patchy atrophy, necrosis, and increased interstitial connective tissue without signs of muscle fiber hypertrophy. This myopathy associated with hypothyroidism typically presents with proximal weakness and fatigue, exertional pain, muscle cramps and myalgia, slowed movements, diminished deep tendon reflexes (prolongation of the muscle contraction produces a slow relaxation phase of the tendon relaxation phase), stiffness, and myxedema. Mental and growth retardation and macroglossia are further findings reported.

Evaluate the airway with respect to macroglossia. The relevance of the muscular “hypertrophy” (which mainly affects the limbs) to the use of muscle relaxants is not known. Faced with this myopathy, it is recommended to avoid succinylcholine due to the risk of hyperkalemia. Achieving pharmacological and clinical euthyroidism is desirable from an anesthetic point of view and seems to improve the long-term prognosis.

Hoffman Syndrome: Same clinical presentation with the addition of painful spasms and pseudomyotonia.