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.
Mehrotra P, Chandra M, Mitra MK: Kocher Debre Semelaigne syndrome:
Regression of pseudohypertrophy of muscles on thyroxine. Arch Dis Child
Tashko V, Davachi F, Baboci R, et al: Kocher-Debre Semelaigne syndrome.
Clin Pediatr (Phila)