Tolga Altuğ ŞEN, Tevfik DEMİR, Reşit KÖKEN, Hamide MELEK, Özlem GÜRAKSIN, Hafza UÇAR, Gülay GÜN, Faruk ALPAY

Hipotiroidi ve kas psödohipertrofisi: Kocher-debre semelaigne sendromu

Uzun süre tedavi edilmeyen hipotiroidi nedeniyle gelişen miyopatili olgularda proksimal kas güçsüzlüğü, egzersizle ortaya çıkan kas ağrıları, kas ödemine bağlı psödohipertrofi, derin tendon reflekslerinde azalma, kaslarda sertleşme vardır. Hipotiroidiye bağlı kaslarda görülen psödohipertrofi oldukça nadir görülen bir klinik tablodur ve Kocher-Debre-Semelaigne sendromu olarak bilinir. Burada boy kısalığının tetkiki için başvuran, 13 yaş 4 aylık kız olguda tespit edilen tiroid aplazisine bağlı hipotiroidi nedeniyle oluşan psödohipertrofiyi vurgulayarak, tedavi edilmeyen hipotirodinin miyopati yapıcı etkisine dikkat çekilmek istendi.

Hypothyroidism and muscle pseudohypertrophy: Kocher-debre semelaigne syndrome

Long standing hypothyroidism without therapy leads to myopathy which is associated 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 form of hypothyroid myopathy, which causes hypertrophy of muscles. In this article, we emphasized hypothyroid myopathy by reporting a-13 4/12-year old girl with short stature who was diagnosed with hypothyroidism due to thyroid aplasia that caused pseudohypertrophy of muscles.

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