Kocher–Debre–Semelaigne syndrome

The Kocher–Debré–Semelaigne syndrome is hypothyroidism in infancy or childhood characterised by lower extremity or generalized muscular hypertrophy, myxoedema, short stature and cretinism.[1] The absence of painful spasms and pseudomyotonia differentiates this syndrome from its adult form, which is Hoffmann syndrome.[2]

Kocher–Debre–Semelaigne syndrome
Other namesMuscular pseudohypertrophy-hypothyroidism syndrome

The syndrome is named after Emil Theodor Kocher, Robert Debré and Georges Semelaigne.

Also known as Debre–Semelaigne syndrome or cretinism-muscular hypertrophy, hypothyroid myopathy, hypothyroidism-large muscle syndrome, hypothyreotic muscular hypertrophy in children, infantile myxoedema-muscular hypertrophy, myopathy-myxoedema syndrome, myxoedema-muscular hypertrophy syndrome, myxoedema-myotonic dystrophy syndrome.

Kocher-Debre-Semelaigne syndrome gives infant a Hercules appearance.[3]

References
  1. Millichap, J. Gordon (2013). Neurological syndromes : a clinical guide to symptoms and diagnosis. New York, NY: Springer New York. p. 121. ISBN 9781461477860.
  2. Bhansali, Anil; Aggarwal, Anuradha (2016). Clinical Rounds in Endocrinology: Volume II - Pediatric Endocrinology. Springer. p. 81. ISBN 9788132228158.
  3. Sainani, JP (2015). Clinical Cases & Pearls in Medicine. JP Medical Ltd. p. 333. ISBN 9789351526469.
Classification
External resources


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