Kocher-Debré-Semelaigne syndrome with rhabdomyolysis and increased creatinine.

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.

• Authors: Emine Ayça Cimbek, Yaşar Şen, Sevil Arı Yuca, Demet Çam, Celal Gür, Harun Peru
• Journal: Journal of pediatric endocrinology & metabolism : JPEM (J Pediatr Endocrinol Metab) Vol. 28 Issue 11-12 Pg. 1383-5 (Nov 01 2015) ISSN: 2191-0251 [Electronic] Germany
• PMID: 26181046 (Publication Type: Case Reports, Journal Article)

Chemical References

• Creatinine
• Creatine Kinase
• Thyroxine

Topics

• Adolescent
• Congenital Hypothyroidism (blood, complications)
• Creatine Kinase (blood)
• Creatinine (blood)
• Hashimoto Disease (blood, complications, drug therapy)
• Humans
• Hypertrophy (blood, complications)
• Male
• Muscle, Skeletal (pathology)
• Muscular Diseases (blood, complications)
• Rhabdomyolysis (blood, etiology)
• Thyroxine (therapeutic use)
• Treatment Outcome