Kocher-Debre-Semelaigne Syndrome: Hypothyroid Muscular Pseudohypertrophy—A Rare Report of Two Cases

Shaw, Chandan; Shaw, Prachi

doi:10.1155/2012/153143

Cited by 11 publications

(15 citation statements)

References 4 publications

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“…There are limited reports describing the regression of the muscular pseudohypertrophy amongst other improvements in clinical features following initiation of therapy. However these reports have noted a regression over 6 months [12,13] while in our case a more marked and dramatic regression of muscle pseudohypertrophy was noted.…”

Section: Discussioncontrasting

confidence: 49%

Kocher-Debre-Semelaigne Syndrome: Response to Thyroxine Replacement Therapy

Tewari¹

2016

Int J Clin Endocrinol Metab

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Section: Discussioncontrasting

confidence: 49%

Kocher-Debre-Semelaigne Syndrome: Response to Thyroxine Replacement Therapy

Tewari¹

2016

Int J Clin Endocrinol Metab

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“…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] .…”

Section: Discussionmentioning

confidence: 97%

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

Razi

Gupta

et al. 2016

Eur Thyroid J

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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.

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“…2,3 It is a rare disorder in which prompt diagnosis and initiation of thyroxine supplementation will result in reversal of symptoms. 4,5 There are very few reported cases in literature and we present one such case.…”

Section: Introductionmentioning

confidence: 84%

“…2,3 This condition has a male preponderance, and has been reported in children with consanguineous parents and an autosomal recessive inheritance has been suggested. [4][5][6] Gross changes in muscles as seen in myopathy are absent in KDSS and electromyography usually reveals a myogenic lesion with low muscle action potential. KDSS has to be clearly differentiated from primary myopathies like Duchene muscular dystrophy(DMD), which can also present with pseudohypertrophy of muscles with intellectual and learning impairment.…”

Section: Discussionmentioning

confidence: 99%