Kocher–Debre–Semelaigne syndrome

Kocher–Debré–Semelaigne syndrome
Other namesDebré–Semelaigne syndrome, cretinism-muscular hypertrophy, hypothyroidism-large muscle syndrome, hypothyreotic muscular hypertrophy in children, infantile myxoedema-muscular hypertrophy, myopathy-myxoedema syndrome, myxoedema-muscular hypertrophy syndrome, myxoedema-myotonic dystrophy syndrome, muscular pseudohypertrophy-hypothyroidism syndrome

Kocher–Debré–Semelaigne syndrome (KDSS) is hypothyroidism in infancy or childhood characterised by lower extremity or generalized muscular hypertrophy (Herculean appearance[1]), myxoedema, short stature, and cognitive impairment.[2]

The syndrome is named after Emil Theodor Kocher, Robert Debré and Georges Semelaigne. Also known as Debré–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.

The adult-onset form of this syndrome is Hoffmann syndrome.[3] Some sources claim that two of the differentiating symptoms between KDSS and Hoffmann syndrome is that Hoffmann syndrome lacks painful spasms and pseudomyotonia;[1][4] however, this claim is in conflict with other sources that list these symptoms as also being present in Hoffmann syndrome.[5][6][7][8]

  1. ^ a b Sainani, JP (2015). Clinical Cases & Pearls in Medicine. JP Medical Ltd. p. 333. ISBN 9789351526469.
  2. ^ Millichap, J. Gordon (2013). Neurological syndromes : a clinical guide to symptoms and diagnosis. New York, NY: Springer New York. p. 121. ISBN 9781461477860.
  3. ^ Bhansali, Anil; Aggarwal, Anuradha (2016). Clinical Rounds in Endocrinology: Volume II - Pediatric Endocrinology. Springer. p. 81. ISBN 9788132228158.
  4. ^ Agrawal, Sanwar; Thakur, Prashant (2010-12-16). "Kocher–Debré–Semelaigne syndrome". BMJ Case Reports. 2010: bcr0420102877. doi:10.1136/bcr.04.2010.2877. ISSN 1757-790X. PMC 3029797. PMID 22802324.
  5. ^ Vasconcellos, Luiz Felipe Rocha; Peixoto, Maria Claudia; de Oliveira, Tatiana Nunes; Penque, Glória; Leite, Ana Claudia Celestino (September 2003). "Hoffman's syndrome: pseudohypertrophic myopathy as initial manifestation of hypothyroidism. Case report". Arquivos de Neuro-Psiquiatria. 61 (3B): 851–854. doi:10.1590/s0004-282x2003000500027. ISSN 0004-282X. PMID 14595495.
  6. ^ Mangaraj, Swayamsidha; Sethy, Ganeswar (2014). "Hoffman's syndrome – A rare facet of hypothyroid myopathy". Journal of Neurosciences in Rural Practice. 5 (4): 447–448. doi:10.4103/0976-3147.140025. ISSN 0976-3147. PMC 4173264. PMID 25288869.
  7. ^ Udayakumar, N.; Rameshkumar, A. C.; Srinivasan, A. V. (2005). "Hoffmann syndrome: presentation in hypothyroidism". Journal of Postgraduate Medicine. 51 (4): 332–333. ISSN 0022-3859. PMID 16388183.
  8. ^ Qureshi, Waseem; Hassan, Ghulam; Khan, Ghulam Qadir; Kadri, Syed Manzoor; Kak, Manish; Ahmad, Manzoor; Tak, Shahid; Kundal, Darshan Lal; Hussain, Showkat; Rather, Abdul Rashid; Masoodi, Ibrahim; Sikander, Sabia (2005-07-20). "Hoffmann's syndrome: a case report". GMS German Medical Science. 3: Doc05. ISSN 1612-3174. PMC 2703243. PMID 19675722.
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