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Kocher–Debre–Semelaigne syndrome

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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]

Presentation

The age at which a child presents with KDSS may vary from new born to as late as 11 years of age.[9] This disease is very rare as only less than 10% of children with hypothyroid myopathy develops this condition.[citation needed] Along with features of hypothyroidism (such as lethargy, slow heart rate, cold intolerance, dry skin, and hoarse voice) the main additional feature is muscle hypertrophy. It can happen in any muscle of the limbs, but commonly affects the calf muscles, giving the typical Herculean appearance.[9]

Other features are pseudomyotonia, myokymia, slow tendon reflex, slowed muscle contractions and relaxations, muscle stiffness, proximal muscle weakness and myopathy. The severity of these symptoms are determined by the period of hypothyroidism and the degree of deficiency of thyroid hormones.[10] It may also include macroglossia.[11]

EMG is either normal or may show myopathic low amplitude and short duration motor unit action potentials (MUAPS).[12] The enzymes creatine kinase is elevated usually.

Pathophysiology

The assumed cause of muscle hypertrophy in KDSS is an abnormal metabolism of carbohydrates leading to increased glycogen accumulation and increased mucopolysaccharide deposits in the muscles.[13] Yet another speculation is an excess intra cellular calcium due to ineffective reuptake into the sarcoplasmic reticulum, which causes a sustained contraction and thereby hypertrophy.[14]

In hypothyroidism the fast twitch muscle fiber is converted to slow twitch fiber, causing the slower reflex or hung up reflex. This may occur as a result of reduction in muscle mitochondrial oxidative capacity and beta-adrenergic receptors, as well as the induction of an insulin-resistant state, due to decrease in thyroid hormones.[15]

The causes for muscle weakness is said to be decrease in muscle carnitine, decreased muscle oxidation, expression of a slower ATPase in myosin chain and decreased transport across the cell membrane.[16][17]

The rigidity associated with congenital hypothyroidism may be due to abnormal development of basal ganglia.[18]

Diagnosis

Differential diagnoses

Diseases known to have a pseudoathletic appearance of the calves (hypertrophy or pseudohypertrophy), including exercise intolerance and/or muscle weakness:

Thyroid metabolism can be disrupted secondary to a primary disease. A common comorbidity of the metabolic myopathy McArdle disease (Glycogen storage disease type V) is hypothyroidism.[23][24] It is also a comorbidity of late-onset Pompe disease (Glycogen storage disease type II).[25][26] As both hyper- and hypothyroidism disrupts muscle glycogen metabolism, it is important to keep in mind differential diagnoses and their comorbidities when trying to determine whether signs and symptoms are either primary or secondary disease.[27][28][29][30][31]

Treatment

The muscle hypertrophy and other symptoms are reversible on treatment with levothyroxine.[32]

References

  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. ^ a b 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.
  9. ^ a b Tullu, Milind S.; Udgirkar, Vardhaman S.; Muranjan, Mamta N.; Sathe, Shefali A.; Kamat, Jaishree R. (2003-08-01). "Kocher-Debre-Semelaigne syndrome: Hypothyroidism with muscle pseudohypertrophy". The Indian Journal of Pediatrics. 70 (8): 671–673. doi:10.1007/BF02724260. ISSN 0973-7693. PMID 14510090. S2CID 40709054.
  10. ^ Klein, Irwin; Mantell, Paul; Parker, Mitchell; Levey, Gerald S. (May 1980). "Resolution of abnormal muscle enzyme studies in hypothyroidism". The American Journal of the Medical Sciences. 279 (3): 159–162. doi:10.1097/00000441-198005000-00004. PMID 7424961. S2CID 11587035.
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  13. ^ Panat, Sunil R.; Jha, Prakash Chandra; Chinnannavar, Sangamesh N.; Chakarvarty, Ankkita; Aggarwal, Ashish (March 2013). "Kocher Debre Semelaigne Syndrome: A Rare Case Report with Orofacial Manifestations". Oman Medical Journal. 28 (2): 128–130. doi:10.5001/omj.2013.33. ISSN 1999-768X. PMC 3628204. PMID 23599883.
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  20. ^ Menon, M. Suraj; Roopch, P. Sreedharan; Kabeer, K. Abdulkhayar; Shaji, C. Velayudhan (July 2016). "Calf Muscle Hypertrophy in Late Onset Pompe's Disease". Archives of Medicine and Health Sciences. 4 (2): 251. doi:10.4103/2321-4848.196188. ISSN 2321-4848. S2CID 58424073.
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  22. ^ de Visser, Marianne (2020-12-01). "Late-onset myopathies: clinical features and diagnosis". Acta Myologica. 39 (4): 235–244. doi:10.36185/2532-1900-027. ISSN 1128-2460. PMC 7783434. PMID 33458579.
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  24. ^ Scalco, Renata S.; Lucia, Alejandro; Santalla, Alfredo; Martinuzzi, Andrea; Vavla, Marinela; Reni, Gianluigi; Toscano, Antonio; Musumeci, Olimpia; Voermans, Nicol C.; Kouwenberg, Carlyn V.; Laforêt, Pascal; San-Millán, Beatriz; Vieitez, Irene; Siciliano, Gabriele; Kühnle, Enrico (2020-11-24). "Data from the European registry for patients with McArdle disease and other muscle glycogenoses (EUROMAC)". Orphanet Journal of Rare Diseases. 15 (1): 330. doi:10.1186/s13023-020-01562-x. ISSN 1750-1172. PMC 7687836. PMID 33234167.
  25. ^ Schneider, Joseph; Burmeister, Lynn A.; Rudser, Kyle; Whitley, Chester B.; Jarnes Utz, Jeanine (2016-07-01). "Hypothyroidism in late-onset Pompe disease". Molecular Genetics and Metabolism Reports. 8: 24–27. doi:10.1016/j.ymgmr.2016.06.002. ISSN 2214-4269. PMC 4932620. PMID 27408821.
  26. ^ Fatehi, Farzad; Ashrafi, Mahmoud Reza; Babaee, Marzieh; Ansari, Behnaz; Beiraghi Toosi, Mehran; Boostani, Reza; Eshraghi, Peyman; Fakharian, Atefeh; Hadipour, Zahra; Haghi Ashtiani, Bahram; Moravej, Hossein; Nilipour, Yalda; Sarraf, Payam; Sayadpour Zanjani, Keyhan; Nafissi, Shahriar (2021-09-21). "Recommendations for Infantile-Onset and Late-Onset Pompe Disease: An Iranian Consensus". Frontiers in Neurology. 12: 739931. doi:10.3389/fneur.2021.739931. ISSN 1664-2295. PMC 8490649. PMID 34621239.
  27. ^ Rodolico, Carmelo; Bonanno, Carmen; Pugliese, Alessia; Nicocia, Giulia; Benvenga, Salvatore; Toscano, Antonio (2020-09-01). "Endocrine myopathies: clinical and histopathological features of the major forms". Acta Myologica. 39 (3): 130–135. doi:10.36185/2532-1900-017. ISSN 1128-2460. PMC 7711326. PMID 33305169.
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  31. ^ Brenta, Gabriela (2011). "Why Can Insulin Resistance Be a Natural Consequence of Thyroid Dysfunction?". Journal of Thyroid Research. 2011: 152850. doi:10.4061/2011/152850. ISSN 2090-8067. PMC 3175696. PMID 21941681.
  32. ^ Mehrotra, P (2002-03-01). "Kocher Debre Semelaigne syndrome: regression of pesudohypertrophy of muscles on thyroxine". Archives of Disease in Childhood. 86 (3): 224a–224. doi:10.1136/adc.86.3.224-a. ISSN 0003-9888. PMC 1719134. PMID 11861255.
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