Kocher-Debré-Semelaigne syndrome with rhabdomyolysis and increased creatinine
-
Emine Ayça Cimbek
,
Yaşar Şen
Abstract
Association of Kocher-Debré-Semelaigne syndrome–a myopathy of hypothyroidism in childhood characterized by muscular hypertrophy, with rhabdomyolysis is very rare. We present a case of Kocher-Debré-Semelaigne syndrome with rhabdomyolysis secondary to Hashimoto’s thyroiditis. He had muscular symptoms simulating poly/dermatomyositis, massively elevated creatine kinase (CK) levels and high creatinine levels. All of the findings reversed on treatment of hypothyroidism. The response to the therapy strongly suggested that Kocher-Debré-Semelaigne (KDS) syndrome was the underlying etiology. Serum thyroid- stimulating hormone levels should be routinely determined in all patients with muscular symptoms and/or elevation of CK and creatinine, keeping KDS syndrome in mind.
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©2015 by De Gruyter
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Articles in the same Issue
- Frontmatter
- Highlight: Turner syndrome
- Turner syndrome – working together with patients and their families
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- Inhibin B in adolescents and young adults with Turner syndrome
- Mode of initial presentation and chromosomal abnormalities in Irish patients with Turner syndrome: a single-centre experience
- Retrospective evaluation of pubertal development and linear growth of girls with Turner Syndrome treated with oral and transdermal estrogen
- Turner syndrome in Albania and the efficacy of its treatment with growth hormone
- Review articles
- The relation of vitamin D status with metabolic syndrome in childhood and adolescence: an update
- Putting the pieces together: cryptorchidism – do we know everything?
- Original articles
- Investigation of androgen receptor gene mutations in a series of 21 patients with 46,XY disorders of sex development
- Molecular diagnosis of maturity-onset diabetes of the young (MODY) in Turkish children by using targeted next-generation sequencing
- Association of physical activity level with depression, anxiety, and quality of life in children with type 1 diabetes mellitus
- Neonatal diabetes in Ukraine: incidence, genetics, clinical phenotype and treatment
- The effect of intraoperative administration of dexamethasone for PONV prophylaxis on perioperative blood glucose level in obese and normal weight children
- Are obesity and metabolic syndrome associated with plasma adropin levels in children?
- Carnitine insufficiency in children with inborn errors of metabolism: prevalence and treatment efficacy
- Comparison of energy expenditure, body composition, metabolic disorders, and energy intake between obese children with a history of craniopharyngioma and children with multifactorial obesity
- Effect of serum cholesterol on bone mineral density in normal-weight children and adolescents
- Assessment of bone turnover markers and bone mineral density in normal short boys
- Long-term treatment for hyperphenylalaninemia and phenylketonuria: a risk for nutritional vitamin B12 deficiency?
- Risk factors affecting the development of nephrocalcinosis, the most common complication of hypophosphatemic rickets
- Children with hyperthyroidism younger than age 7 require higher mg/kg doses of methimazole to normalize free T4 compared to older children
- Effects of bisphosphonates to treat osteoporosis in children with cerebral palsy: a meta-analysis
- AMH levels at central precocious puberty and premature thelarche: is it a parameter?
- Validating Paediatric Morphometrics: body proportion measurement using photogrammetric anthropometry
- Treatment of central precocious puberty and early puberty with GnRH analog in girls with Williams-Beuren syndrome
- Short communication
- Pilot study on the dietary habits and lifestyles of girls with idiopathic precocious puberty from the city of Rome: potential impact of exposure to flame retardant polybrominated diphenyl ethers
- Patient reports
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- A novel mutation of AMH in three siblings with persistent Mullerian duct syndrome
- Kocher-Debré-Semelaigne syndrome with rhabdomyolysis and increased creatinine
- Anaphylaxis to gonadorelin acetate in a girl with central precocious puberty
- Efficacy and safety of sirolimus in a neonate with persistent hypoglycaemia following near-total pancreatectomy for hyperinsulinaemic hypoglycaemia
