Kocher-Debre Semelaigne Syndrome

 
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Question :
Sanjeev Kumar Digra, Virender Singh, Shirin Nomani
Department of Pediatrics, Government Medical College, Jammu, JandK, and Ayush Hospital, Bhubaneshwar, Orissa, India.

Address for Correspondence: Sanjeev Kumar Digra, C, O Sh. S.D. Thappa, 190- Reshamghar Colony, Jammu {JandK}, India. Email: sanjeevahsaas@yahoo.co.in

A 15 years old boy came with excessive sluggishness, weakness, sleepiness, poor appetite and cold intolerance for last seven months. On examination he had coarse facial features, rough skin, short neck, dull look, edematous eyelids, broad and short hands and legs as depicted in Figure. His heart rate was 68 per minute, respiration rate 16 per minute, blood pressure 112, 74 mmHg and temperature was 98.4 degree F. Thyroid profile was suggestive of hypothyroidism {T3- 20mg, dl, T4-1.2 mg, dl and TSH- 211iu, ml}.

What is the diagnosis_?
Expert Opinion :
Kocher Debre Semeiaigne syndrome. In hypothyroidism muscles become hypotonic. A variant of hypothyroidism seen in children and rarely in neonates in whom there occurs generalized muscular pseudo-hypertrophy is known as Kocher-Debre Semelaigne syndrome {1,2}. Similar condition in adults is known as Hoffman’s syndrome {3}. The affected children have an athletic appearance. The exact incidence of this syndrome is not known but it has certainly become rare with the prevention as well as early detection and proper treatment of hypothyroidism in children. Its pathogenesis is also obscure. Incidence of this syndrome is more in boys than girls, children born as a result of consanguineous marriages and hypothyroidism of longer duration and more severity. Muscle biopsies of these patients reveal many chemical and ultra structural changes {1}. Mastaglia et al reported type I and type II fiber atrophy or hypertrophy, myofibre necrosis and regeneration in four cases and in one case prominent core – like areas containing amorphous granulo-filamentous material in patient with hypothyroidism. The findings in their series of cases illustrate the clinical and histopathological heterogeneity of patients with hypothyroid myopathy. However this condition is completely reversible with use of thyroxin {4}. On review after six months our patient on thyroxin showed improvement with regression of muscular hypertrophy.

References:
1. LaFranchi. Disorders of the thyroid gland. In: Kliegman RM, Behrman RE, Jenson HB, Stanton BF {eds} Nelson Textbook of Pediatrics, 18th Edn. : Elsevier, New Delhi. 2008, pp. 2316- 40.
2. Ghosh JB. Kocher Debre Semelaigne syndrome in a neonate. Indian Pediatr 1988, 25: 1018-1019.
3. Brown RH, Mendell JR. Muscular dystrophies and other muscle diseases. In: Kasper DL, Braunwald E, Fauci AS, Hauser SL, Longo DL, Jameson JL {eds} Harrison’s Principles of Internal Medicine, 16th Edn. : McGraw-Hill, New Delhi. 2005, pp 2527-2540.
4. Mastaglia FL, Ojeda VJ, Sarnat HB, Kakulas BA. Myopathies associated with hypothyroidism : a review based upon 13 cases. Aust N Z J Med 1988, 18: 799-806.

E-published: August 2009 Vol 6 Issue 8 Art # 46

Correct Answers : yes  29%

Last Shown : Aug 2009
 
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