Hipotiroidi ve Kas Psödohipertrofisi: Kocher-Debre Semelaigne Sendromu

Tolga Altuğ Şen; Reşit Köken; Hamide Melek; Tevfik Demir; Özlem Güraksın; Hafza Uçar; Gülay Gün; Faruk Alpay

Hipotiroidi ve Kas Psödohipertrofisi: Kocher-Debre Semelaigne Sendromu

Yıl 2009, Cilt: 7 Sayı: 2, 37 - 40, 01.09.2009

Tolga Altuğ Şen , Reşit Köken Hamide Melek Tevfik Demir Özlem Güraksın Hafza Uçar Gülay Gün Faruk Alpay

Öz

Uzun süre tedavi edilmeyen hipotiroidi nedeniyle geliﬂen miyopatili olgulardaproksimal kas güçsüzlüğü, egzersizle ortaya çıkan kas ağrıları, kas ödeminebağlı psödohipertrofi, derin tendon reflekslerinde azalma, kaslarda sertleﬂmevardır. Hipotiroidiye bağlı kaslarda görülen psödohipertrofi oldukça nadirgörülen bir klinik tablodur ve Kocher-Debre-Semelaigne sendromu olarakbilinir. Burada boy kısalığının tetkiki için baﬂvuran, 13 yaﬂ 4 aylık kız olgudatespit edilen tiroid aplazisine bağlı hipotiroidi nedeniyle oluﬂan psödohipertrofiyi vurgulayarak, tedavi edilmeyen hipotirodinin miyopati yapıcı etkisine dikkat çekilmek istendi

Anahtar Kelimeler

Hipotiroidi, çocuk, miyopati, psödohipertrofi

Kaynakça

1. Klein I, Levey G. Unusual manifestations of hypothyroidism. Arch Intern Med 1984; 144: 123-8.
2. Golding DN. Hypothyroidism presenting with musculoskeletal symptoms. Ann Rheum Dis 1970; 29:10-4.
3. Neeck G, Riedel W, Schmidt KL. Neuropathy, myopathy and destructive arthropathy in primary hypothyroidism. J Rheumatol 1990;17:1697-700.
4. Lochmüller H, Reimers CD, Fischer P. Exercise induced myalgia in hypothyroidism. Clin Invest 1993; 71:999-1001.
5. Kung AWC, Ma JTC, Yu YL. Myopathy in acute hypothyroidism. Post Med J 1987;63:661-3.
6. Driscoll C, Schenken JR. Hypothyroid myopathy: an unusual elevation of creatine kinase. J Iowa Med Soc 1979; 69: 240-5.
7. Debre R, Semelaigne G. Syndrome of diffuse muscular hypertrophy in infants causing athletic appearance: its connection with congenital myxedema. Amer J Dis Child 1935; 1351: 50-4.
8. 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.
9. Siciliano G, Monzani F, Manca ML, Tessa A, Caraccio N, Tozzi G, Piemonte F, Mancuso M, Santorelli FM, Ferrannini E, Murri L: Human mitochondrial transcription factor A reduction and mitochondrial dysfunction in Hashimoto's hypothyroid myopathy. Mol Med 2002; 8: 326-33.
10. Monzani F, Caraccio N, Siciliano G, Manca L, Murri L, Ferrannini E. Clinical and biochemical features of muscle dysfunction in subclinical hypothyroidism. J Clin Endocrinol Metab 1997; 82: 3315-8.
11. Ghilardi G, Gonvers JJ, So A: Hypothyroid myopathy as a complication of interferon alpha therapy for chronic hepatitis C virus infection. Br J Rheumatol 1998; 37:1349-51.
12. Afifi AK, Najjar SS, Mire-Salman J, Bergman RA. The myopathology of Kocher Debre Semelaigne syndrome: Electromyography, Light- and Electron-Microscopic study. J Neurol Sci 1974; 22: 445-70.
13. Virmani A, Gambhir A, Iyer PU. Kocher Debre Semelaigne syndrome mimicking primary muscle disease. Indian Pediatr 1990; 27: 88-9.
14. Najjar SS: Muscular hypertrophy in hypothyroid children: The Kocher-Debre-Semelaigne Syndrome. J Ped 1974; 85:236-9.
15. Graig FA, Smith JC. Serum creatine phosphokinase activity in altered thyroid states. J Clin Endocrinol 1965; 25: 723-31.
16. Khaleeli AA, Gohil K, McPhail G, Round JM, Edwards RH. Muscle morphology and metabolism in hypothyroid myopathy: Effects of treatment. J Clin Pathol 1983; 36: 519-26.
17. Scott KR, Simmons Z, Boyer PJ. Hypothyroid myopathy with a strikingly elevated serum creatine kinase level. Muscle Nerve 2002; 26: 141-4.
18. Finsterer J, Stollberger C, Grossegger C, Kroiss A. Hypothyroid myopathy with unusually high serum creatine kinase values. Hormone Res 1999; 52: 205-8.
19. Kabadi UM, Kumar SP. Pericardial effusion in primary hypothyroidism. Am Heart J 1990; 120: 1393-5.
20. Luiz N. Kocher Debre Semelaigne syndrome. Indian Pediatr 1998; 35: 1115-6.
21. Khatua SP, Gangwal A, Khatua S. Kocher Debre Semelaigne syndrome. Indian Pediatr 1984; 21: 337-9

Hypothyroidism and Muscle Pseudohypertrophy: Kocher-Debre Semelaigne Syndrome

Yıl 2009, Cilt: 7 Sayı: 2, 37 - 40, 01.09.2009

Tolga Altuğ Şen , Reşit Köken Hamide Melek Tevfik Demir Özlem Güraksın Hafza Uçar Gülay Gün Faruk Alpay

Öz

Long standing hypothyroidism without therapy leads to myopathy which isassociated with proximal muscle weakness, fatigue, exertional pain, pseudohypertrophy due to myoedema, diminished deep tendon reflexes, and stiffness in muscles. Kocher-Debre-Semelaigne syndrome is a specific, rare formof hypothyroid myopathy, which causes hypertrophy of muscles. In this article, we emphasized hypothyroid myopathy by reporting a-13 4/12-year old girlwith short stature who was diagnosed with hypothyroidism due to thyroidaplasia that caused pseudohypertrophy of muscles

Anahtar Kelimeler

Hypothyroidism, child, myopathy, pseudohypertrophy

Kaynakça

1. Klein I, Levey G. Unusual manifestations of hypothyroidism. Arch Intern Med 1984; 144: 123-8.
2. Golding DN. Hypothyroidism presenting with musculoskeletal symptoms. Ann Rheum Dis 1970; 29:10-4.
3. Neeck G, Riedel W, Schmidt KL. Neuropathy, myopathy and destructive arthropathy in primary hypothyroidism. J Rheumatol 1990;17:1697-700.
4. Lochmüller H, Reimers CD, Fischer P. Exercise induced myalgia in hypothyroidism. Clin Invest 1993; 71:999-1001.
5. Kung AWC, Ma JTC, Yu YL. Myopathy in acute hypothyroidism. Post Med J 1987;63:661-3.
6. Driscoll C, Schenken JR. Hypothyroid myopathy: an unusual elevation of creatine kinase. J Iowa Med Soc 1979; 69: 240-5.
7. Debre R, Semelaigne G. Syndrome of diffuse muscular hypertrophy in infants causing athletic appearance: its connection with congenital myxedema. Amer J Dis Child 1935; 1351: 50-4.
8. 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.
9. Siciliano G, Monzani F, Manca ML, Tessa A, Caraccio N, Tozzi G, Piemonte F, Mancuso M, Santorelli FM, Ferrannini E, Murri L: Human mitochondrial transcription factor A reduction and mitochondrial dysfunction in Hashimoto's hypothyroid myopathy. Mol Med 2002; 8: 326-33.
10. Monzani F, Caraccio N, Siciliano G, Manca L, Murri L, Ferrannini E. Clinical and biochemical features of muscle dysfunction in subclinical hypothyroidism. J Clin Endocrinol Metab 1997; 82: 3315-8.
11. Ghilardi G, Gonvers JJ, So A: Hypothyroid myopathy as a complication of interferon alpha therapy for chronic hepatitis C virus infection. Br J Rheumatol 1998; 37:1349-51.
12. Afifi AK, Najjar SS, Mire-Salman J, Bergman RA. The myopathology of Kocher Debre Semelaigne syndrome: Electromyography, Light- and Electron-Microscopic study. J Neurol Sci 1974; 22: 445-70.
13. Virmani A, Gambhir A, Iyer PU. Kocher Debre Semelaigne syndrome mimicking primary muscle disease. Indian Pediatr 1990; 27: 88-9.
14. Najjar SS: Muscular hypertrophy in hypothyroid children: The Kocher-Debre-Semelaigne Syndrome. J Ped 1974; 85:236-9.
15. Graig FA, Smith JC. Serum creatine phosphokinase activity in altered thyroid states. J Clin Endocrinol 1965; 25: 723-31.
16. Khaleeli AA, Gohil K, McPhail G, Round JM, Edwards RH. Muscle morphology and metabolism in hypothyroid myopathy: Effects of treatment. J Clin Pathol 1983; 36: 519-26.
17. Scott KR, Simmons Z, Boyer PJ. Hypothyroid myopathy with a strikingly elevated serum creatine kinase level. Muscle Nerve 2002; 26: 141-4.
18. Finsterer J, Stollberger C, Grossegger C, Kroiss A. Hypothyroid myopathy with unusually high serum creatine kinase values. Hormone Res 1999; 52: 205-8.
19. Kabadi UM, Kumar SP. Pericardial effusion in primary hypothyroidism. Am Heart J 1990; 120: 1393-5.
20. Luiz N. Kocher Debre Semelaigne syndrome. Indian Pediatr 1998; 35: 1115-6.
21. Khatua SP, Gangwal A, Khatua S. Kocher Debre Semelaigne syndrome. Indian Pediatr 1984; 21: 337-9

Toplam 21 adet kaynakça vardır.

Ayrıntılar

Birincil Dil	Türkçe
Bölüm	Case Report
Yazarlar	Tolga Altuğ Şen Reşit Köken Bu kişi benim Hamide Melek Bu kişi benim Tevfik Demir Bu kişi benim Özlem Güraksın Bu kişi benim Hafza Uçar Bu kişi benim Gülay Gün Bu kişi benim Faruk Alpay Bu kişi benim
Yayımlanma Tarihi	1 Eylül 2009
Yayımlandığı Sayı	Yıl 2009 Cilt: 7 Sayı: 2

Kaynak Göster

APA	Şen, T. A., Köken, R., Melek, H., Demir, T., vd. (2009). Hipotiroidi ve Kas Psödohipertrofisi: Kocher-Debre Semelaigne Sendromu. Güncel Pediatri, 7(2), 37-40.
AMA	Şen TA, Köken R, Melek H, Demir T, Güraksın Ö, Uçar H, Gün G, Alpay F. Hipotiroidi ve Kas Psödohipertrofisi: Kocher-Debre Semelaigne Sendromu. Güncel Pediatri. Eylül 2009;7(2):37-40.
Chicago	Şen, Tolga Altuğ, Reşit Köken, Hamide Melek, Tevfik Demir, Özlem Güraksın, Hafza Uçar, Gülay Gün, ve Faruk Alpay. “Hipotiroidi Ve Kas Psödohipertrofisi: Kocher-Debre Semelaigne Sendromu”. Güncel Pediatri 7, sy. 2 (Eylül 2009): 37-40.
EndNote	Şen TA, Köken R, Melek H, Demir T, Güraksın Ö, Uçar H, Gün G, Alpay F (01 Eylül 2009) Hipotiroidi ve Kas Psödohipertrofisi: Kocher-Debre Semelaigne Sendromu. Güncel Pediatri 7 2 37–40.
IEEE	T. A. Şen, R. Köken, H. Melek, T. Demir, Ö. Güraksın, H. Uçar, G. Gün, ve F. Alpay, “Hipotiroidi ve Kas Psödohipertrofisi: Kocher-Debre Semelaigne Sendromu”, Güncel Pediatri, c. 7, sy. 2, ss. 37–40, 2009.
ISNAD	Şen, Tolga Altuğ vd. “Hipotiroidi Ve Kas Psödohipertrofisi: Kocher-Debre Semelaigne Sendromu”. Güncel Pediatri 7/2 (Eylül 2009), 37-40.
JAMA	Şen TA, Köken R, Melek H, Demir T, Güraksın Ö, Uçar H, Gün G, Alpay F. Hipotiroidi ve Kas Psödohipertrofisi: Kocher-Debre Semelaigne Sendromu. Güncel Pediatri. 2009;7:37–40.
MLA	Şen, Tolga Altuğ vd. “Hipotiroidi Ve Kas Psödohipertrofisi: Kocher-Debre Semelaigne Sendromu”. Güncel Pediatri, c. 7, sy. 2, 2009, ss. 37-40.
Vancouver	Şen TA, Köken R, Melek H, Demir T, Güraksın Ö, Uçar H, Gün G, Alpay F. Hipotiroidi ve Kas Psödohipertrofisi: Kocher-Debre Semelaigne Sendromu. Güncel Pediatri. 2009;7(2):37-40.