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At a glance

It is a congenital infantile disorder characterized by hypothyroidism with myxedema, muscular hypertrophy, short stature, macroglossia, cretinism, and mental retardation. The absence of painful spasms and pseudomyotonia differentiates this medical condition from the Hoffman Syndrome. It gives the infant a Hercules appearance!

Synonyms

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.

History

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 (1892-1972).

Incidence

The exact incidence remains unknown as only very few cases have been reported in the literature.

Genetic inheritance

Usually sporadic. It has also been associated with autosomal recessive inheritance.

Pathophysiology

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.

Clinical aspects

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, stiffness, and myxedema. Mental and growth retardation and macroglossia are further findings reported.

Anesthetic considerations

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.

Other condition to be considered

  • Hoffman Syndrome: Specific, rare form of hypothyroid myopathy in infancy that causes proximal weakness, pseudohypertrophy of muscles, painful spasms, and pseudomyotonia. It was first described in 1897 in an adult who developed muscle stiffness and difficulty in relaxation of muscles after thyroidectomy.

References

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Mehrotra  P, Chandra  M, Mitra  MK: Kocher Debré Sémélaigne syndrome: Regression of pseudohypertrophy of muscles on thyroxine. Arch Dis Child 86:224, 2002.  [PubMed: 11861255]
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Panat  SR, Jha  PC, Chinnannavar  SN, Chakarvarty  A, Aggarwal  A: Kocher debre semelaigne syndrome: A rare case report with orofacial manifestations. Oman Med J 28(2):128–130, 2013. ...

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