DOI: http://dx.doi.org/10.18203/2349-3291.ijcp20162411

Kocher Debre Semilaigne syndrome: a case report

Yashaswini K., Sunil Kumar Agarwalla

Abstract


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.


Keywords


Kocher Debre Semilaigne syndrome, Hypothyroidism, Pseudo hypertrophy, Thyroxine

Full Text:

PDF

References


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.