From weakness to recovery a case report on Kocher-Debre Semelaigne syndrome

Nishmith Rai; Mumtaz Sharif; Rajdeep Pal; Vinaykumar Hedaginal; Rachna Mehta

doi:10.18203/2349-3291.ijcp20250108

Authors

Nishmith Rai Department of Pediatrics, Dr DY Patil University School of Medicine, Nerul, Maharashtra, India
Mumtaz Sharif Department of Pediatrics, Dr DY Patil University School of Medicine, Nerul, Maharashtra, India
Rajdeep Pal Department of Pediatrics, Dr DY Patil University School of Medicine, Nerul, Maharashtra, IndiaIND
Vinaykumar Hedaginal Department of Pediatrics, Dr DY Patil University School of Medicine, Nerul, Maharashtra, India
Rachna Mehta Department of Pediatrics, Dr DY Patil University School of Medicine, Nerul, Maharashtra, India

DOI:

https://doi.org/10.18203/2349-3291.ijcp20250108

Keywords:

Hypothyroidism, Pseudohypertrophy, Kocher-Debre-Semelaigne syndrome, Myopathy

Abstract

Kocher-Debre-Semelaigne syndrome is a rare hypothyroid myopathy in children, characterized by muscle pseudohypertrophy and associated systemic symptoms. We report the case of a 5-year-old girl who presented with progressive muscle weakness, cold intolerance, dry skin, and constipation over seven months with prominent calf muscle hypertrophy, proximal muscle weakness, and hypotonia. This case underscores the importance of prompt diagnosis and treatment of KDSS to reverse symptoms and avoid misdiagnosis as a primary muscle disorder. Awareness is crucial for timely intervention and improved patient outcomes as hypothyroidism can be treated with thyroxine replacement therapy.

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References

Luiz N. Kocher-Debré-Sémélaigne syndrome. Indian Pediatr. 1998;35:1115-6.

Rajvanshi S, Philip R, Gopal K, Rai K, Gupta K. Kocher-Debre-Semelaigne syndrome. Thyroid Res Pract. 2012;9:53-5. DOI: https://doi.org/10.4103/0973-0354.96047

Miniyar S, Kulkarni R, Valvi C, Kinikar A. Kocher-Debre-Semelaigne syndrome. Bombay Hosp J. 2011;53:662-4.

Tullu MS, Bavdekar SB. Kocher-Debre-Semelaigne syndrome. Special Ped Endocrinol. 2004;13:159-62. DOI: https://doi.org/10.5005/jp/books/10707_15

Bhide MP, Khare MD, Jaykar AV, Ranade AY, Patnekar PN. Kocher-Debre-Semelaigne syndrome. Indian Pediatr. 1989;26(10):1049–52.

Patney A, Pai KM, Sholapurkar AA. Kocher Debre Semelaigne syndrome and associated orofacial aspects: report of a case. J Oral Sci 2011;53(1):129-32. DOI: https://doi.org/10.2334/josnusd.53.129

Unachak K, Dejkhamron P. Primary congenital hypothyroidism: clinical characteristics and etiological study. J Med Assoc Thailand. 2004;87(6):612-7.

Tullu MS, Udgirkar VS, Muranjan MN, Sathe SA. Kocher Debre Semelaigne syndrome: hypothyroidism with muscle pseudohypertrophy. Indian J Pediat. 2003;70(8):671–3. DOI: https://doi.org/10.1007/BF02724260

Kapoor A, Kapoor A. “Kocher Debre Semelaigne syndrome”-a case report. People’s J Scient Res. 2009;2(1):13-6.

Virmani A, Gambhir A, Iyer PU. Kocher Debre Semelaigne syndrome mimicking primary muscle disease. Indian Pediatr 1990;27(1):88-9.