Kocher Debre Semilaigne syndrome: a case report

Yashaswini K., Sunil Kumar Agarwalla


Kocher Debre Semilaigne syndrome is a rare clinical disorder wherein clinical hypothyroidism is associated with pseudo hypertrophy of muscles resulting in a herculean appearance to the affected patient. It is clinical disorder characterized by prompt reversal of hypothyroidism and pseudo hypertrophy following use of thyroid hormone supplementation. We present a case of Kocher Debre Semilaigne syndrome that presented with delayed milestones and had characteristic features, which reversed following thyroxine supplementation.


Kocher Debre Semilaigne syndrome, Hypothyroidism, Pseudo hypertrophy, Thyroxine

Full Text:



Debre R, Semilaigne G. Syndrome of diffuse hypertrophy in children causing athletic appearance. Its connection with congenital myxedema. Am J Dis Child. 1935;50:1351-61.

Dharaskar P, Tullu MS, Lahiri KR, et al. Case report. Kocher-Debre-Semelaigne syndrome with pericardial effusion. Indian J Med Sci. 2007;61:527-30.

Tullu MS, Udgirkar VS, Muranjan MN, Sathe SA, Kamat JR. Kocher-Debre-Semelaigne syndrome: hypothyroidism with muscle pseudohypertrophy. Indian J Pediatr. 2003;70:671-3.

Shaw C, Shaw P. Kocher-Debre-Semelaigne syndrome: hypothyroid muscular pseudohypertrophy-a rare report of two cases. Case Rep Endocrinol. 2012;2012:1.

Mehrotra P, Chandra M, Mitra MK. Kocher Debre Semelaigne Syndrome. Regression of pseudohypertrophy of muscle on thyroxine. Archives of Disease in Childhood. 2002;86(3):224.

Ghosh JB. Kocher Debre Semelaigne syndrome in a neonate. Indian Pediatrics. 1988;25(10):1018-9.

Unachak K, Dejkhamron P. Primary congenital hypothyroidism: clinical characteristics and etiological study. Journal of the Medical Association of Thailand. 2004;87(6):612-7.

Tashko V, Davachi F, Baboci R, Drishti G, Hoxha P. Kocher Debre Semelaigne syndrome. Clin Paediatr. 1999;38:113-5.

Affifi AK, Najjar SS, Mire-Salman J, Bergman RA. The myopathy of the Kocher-Debre-Semelaigne syndrome: electromyography, light- and electron-microscopic study. Journal of the Neurological Sciences. 1974;22:445-70.

Moorthy N, Kumar S, Dabadghao P, Kapoor A. Kocher-Debre-Semelaigne syndrome with arrhythmogenic right ventricular cardiomyopathy: A hitherto unrecognized association. Indian J Endocr Metab. 2012;16:1032-4.