Kocher-Debre-Semelaigne syndrome

Rajvanshi, Satyam; Philip, Rajeev; Gopal, Krishna; Gupta, Kavya

doi:10.4103/0973-0354.96047

Cited by 7 publications

(14 citation statements)

References 1 publication

Supporting

Mentioning

Contrasting

Unclassified

Order By: Relevance

“…Biochemically, it is marked by high levels of CPK in a hypothyroid patient, while histochemical and ultrastructural changes on muscle biopsy are nonspecific. All of these findings normalize on adequate thyroxine replacement [4] .…”

Section: Discussionmentioning

confidence: 85%

“…A shift of fast-twitch fibers to slow-twitch fibers in the involved muscles is considered to be the cause of delayed contraction and relaxation [4] . Biochemically, it is marked by high levels of CPK in a hypothyroid patient, while histochemical and ultrastructural changes on muscle biopsy are nonspecific.…”

Section: Discussionmentioning

confidence: 99%

“…This syndrome was initially firstly reported by Emil Theodore Kocher in 1892, while in 1935 Robert Debré and Georges Sémélaigne emphasized the occurrence of muscular pseudohypertrophy [9] . KDSS is a hypothyroid myopathy presenting as pseudohypertrophy of the affected muscles, delayed contraction and relaxation of deep tendon reflexes, pseudomyotonia, and myokymia [4] . The syndrome mainly affects children be- tween the ages of 18 months and 10 years.…”

Section: Discussionmentioning

confidence: 99%

“…The probable mechanism of this unusual presentation is structural homology between the different glycoprotein hormones acting through G-protein-coupled receptors [2] . KDSS is a rare presentation of juvenile hypothyroidism which manifests as a combination of hypothyroidism, calf muscle pseudohypertrophy, delayed contraction and relaxation of reflexes, and percussion myxedema [4] . The pathogenesis of the syndrome is still unclear, but the accumulation of glycogen and glucosaminoglycans is thought to play an important role [4] .…”

Section: Introductionmentioning

confidence: 99%

See 3 more Smart Citations

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

Razi

Gupta

et al. 2016

Eur Thyroid J

View full text Add to dashboard Cite

delayed contraction and relaxation of reflexes, and percussion myxedema. Objectives: To diagnose the rare association of VWGS and KDSS and to conduct a follow-up of the patient on replacement therapy. Methods: We present a case of a 9-year-old female child who presented to the endocrine department with complaints of intermittent vaginal bleeding, short stature, and difficulty in walking. On evaluation she was found to be having autoimmune hypothyroidism, FSH-dominated isosexual pseudoprecocious puberty, delayed bone age, secondary pituitary macroadenoma, delayed relaxation of deep tendon reflexes, and pseudohypertrophy of calf muscles. The diagnosis of VWGS associated with KDSS was made. The patient was initially put on 25 μg thyroxine replacement, which was titrated accordingly, and was followed up after 6 months and 1 year. Results: All the Key WordsVan Wyk-Grumbach syndrome · Juvenile hypothyroidism · Isosexual pseudoprecocious puberty · Multicystic ovaries · Kocher-Debré-Sémélaigne syndrome Abstract Background: 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 precocious puberty. Kocher-Debré-Sémélaigne (KDSS) is a rare presentation of juvenile hypothyroidism manifesting as calf muscle pseudohypertrophy, What Is Known about This Topic?• Van Wyk-Grumbach and Kocher-Debré-Sémélaigne syndromes are two rare presentations of primary hypothyroidism in pediatric patients. Only a single case of the simultaneous occurrence of these two syndromes has been described in the medical literature. What Does This Case Report Add?• This is the second description of the simultaneous occurrence of these rare syndromes, and we have shown that their manifestations fully resolve by thyroxine treatment without any sequelae.

show abstract

Section: Discussionmentioning

confidence: 85%

Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

See 2 more Smart Citations

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

Razi

Gupta

et al. 2016

Eur Thyroid J

View full text Add to dashboard Cite

show abstract

“…Синдром Кохера-Дебре-Семильена (СКДС)сочетание мышечной псевдогипертрофии и длительно текущего гипотиреоза у детей [1]. Синдром может возникнуть как при врожденном гипотиреозе (агенезия щитовидной железы, дисгормоногенез), так и в результате приобретенных причин (аутоиммунный тиреоидит) [2].…”

unclassified

Pseudohypertrophic myopathy in a child with hypothyroidism (Kocher—Debre—Semelaigne syndrome)

Bogova

Ахсарбековна²,

Shiryaeva

et al. 2017

Probl Endokrinol (Mosk)

View full text Add to dashboard Cite

The Kocher-Debre-Semelaigne syndrome (KDSS) is a rare disease that clinically manifests as hypothyroidism and muscle pseudohypertrophy of the trunk and extremities. KDSS occurs mainly in countries where there is no screening for congenital hypothyroidism; however, this syndrome can develop when there is acquired hypothyroidism. In this syndrome, muscle hypertrophy is false (pseudohypertrophy); it is not accompanied by an increase in muscle strength but, on the contrary, leads to a decrease in muscle strength and the development of muscle hypotension. Increased levels of creatinine phosphokinase (CPK) and lactate dehydrogenase (LDH) are the characteristic laboratory sign of myopathy in this syndrome. The signs of hypothyroidism and muscle pseudohypertrophy are reduced by levothyroxine therapy. Indicators of the final height in the case of delayed treatment may remain poor. The clinical signs characteristic of the disease, especially in the presence of a nonspecific clinical picture of hypothyroidism, enable an early diagnosis and timely treatment, which emphasizes the importance of doctors’ awareness of this syndrome.

show abstract