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1. 甲状腺機能低下性ミオパチーhypothyroid myopathy [show details]
… Other neurologic manifestations of hypothyroidism are discussed separately. The Kocher-Debre-Semelaigne syndrome describes infants with typical features of cretinism associated with diffuse muscular…
2. 小児や青年の後天性甲状腺機能低下症acquired hypothyroidism in childhood and adolescence [show details]
…present with a myopathy and dramatically elevated serum creatine kinase levels, known as Kocher-Debre-Semelaigne syndrome . Imaging abnormalities – Primary hypothyroidism may be associated with enlargement…
3. 脱力がみられる小児の病因および評価etiology and evaluation of the child with weakness [show details]
…remains an important cause of muscle weakness in infants in many parts of the world. The Kocher-Debre-Semelaigne syndrome describes infants with typical features of cretinism associated with diffuse muscular…

English Journal

A rare complication of untreated congenital hypothyroidism in a Sudanese child.

, O O, S S, S S, .
Sudanese journal of paediatrics. 2018 ;18(2)64-66.
The clinical features and management of a 7-year-old boy who presented with Kocher-Debre-Semelaigne syndrome (KDSS) are described. KDSS is a rare complication of the long-standing, untreated congenital hypothyroidism. It can be encountered in clinical practice in countries where neonatal screening p
PMID 30799903

Van Wyk-Grumbach Syndrome with Kocher-Debré-Sémélaigne Syndrome: Case Report of a Rare Association.

Razi SM, Gupta AK, Gupta DC, Gutch M, Gupta KK, Usman SI.
European thyroid journal. 2017 Feb;6(1)47-51.
Van Wyk-Grumbach syndrome (VWGS) is a rare presentation of juvenile hypothyroidism which manifests in females as chronic autoimmune hypothyroidism, isosexual pseudoprecocious puberty, and multicystic ovaries. It uniquely presents with short stature and delayed bone age unlike other causes of precoci
PMID 28611948

Hypothyroid myopathy: A peculiar clinical presentation of thyroid failure. Review of the literature.

Sindoni A, Rodolico C, Pappalardo MA, Portaro S, Benvenga S.
Reviews in endocrine & metabolic disorders. 2016 12;17(4)499-519.
Abnormalities in thyroid function are common endocrine disorders that affect 5-10 % of the general population, with hypothyroidism occurring more frequently than hyperthyroidism. Clinical symptoms and signs are often nonspecific, particularly in hypothyroidism. Muscular symptoms (stiffness, myalg
PMID 27154040

Japanese Journal

Kocher Debre Semelaigne syndrome and associated orofacial aspects: report of a case

Patney Aditya,Pai Keerthilatha M.,Sholapurkar Amar A.
Ｊｏｕｒｎａｌ　ｏｆ　Ｏｒａｌ　Ｓｃｉｅｎｃｅ 53(1), 129-132, 2011
… Myopathy and muscular pseudohypertrophy associated with severe congenital hypothyroidism has been described as Kocher Debre Semelaigne syndrome, which is a rare disorder with only a few previously published reports. … However, none of these reports have described the orofacial aspects of this syndrome. …
NAID 130000659047

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Rare disease: Kocher–Debré–Semelaigne syndrome

A combination of macroglossia, developmental delay, stunting and pseudohypertrophy of muscles clinches the diagnosis of Kocher–Debré–Semelaigne syndrome (KDS). Muscle enlargement, stiffness and cramping are a ...

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Kocher Debre Semelaigne Syndrome is a rare syndrome with clinical manifestation of hypothyroidism associated with pseudomuscular hypertrophy. Very few cases have been reported on kocher-debre semelaigne ...

Kocher-Debre-Semelaigne syndrome | definition of Kocher ...

What is Kocher-Debre-Semelaigne syndrome? Meaning of Kocher-Debre-Semelaigne syndrome medical term. What does Kocher-Debre-Semelaigne syndrome mean? Kocher-Debre-Semelaigne syndrome | definition of Kocher ...