Kocher-Debre-Semelaigne syndrome with exceptionally elevated creatine phosphokinase levels

Article type: Research Article

Authors: Prasad, Rajniti | Mittal, Roopali | Mishra, Om Prakash

Affiliations: Department of Pediatrics, Institute of Medical Sciences, Banaras Hindu University, Varanasi, Uttar Pradesh, India

Note: [] Correspondence: Dr. Rajniti Prasad, Department of Pediatrics, Institute of Medical Sciences, Banaras Hindu University, Varanasi-221005, India. Tel.:/Fax: +91 0542 2367677; E-mail: rajnitip@gmail.com

Abstract: A 13-year-old female child presented to us with enlargement of calf muscle of both lower limb and later diagnosed as hypothyroid myopathy i.e. Kocher-Debre-Semelaigne syndrome. She had extremely high levels of serum creatine phosphokinase. With thyroid replacement therapy, her creatine phosphokinase and myopathy resolved in 3 months.

Keywords: Hypothyroidism, myopathy, creatine phosphokinase

DOI: 10.3233/JPN-2010-0438

Journal: Journal of Pediatric Neurology, vol. 9, no. 1, pp. 97-99, 2011