Tullu Milind S, Udgirkar Vardhaman S, Muranjan Mamta N, Sathe Shefali A, Kamat Jaishree R
Department of Pediatrics, Seth GS Medical College and KEM Hospital, Parel, Mumbai, Maharashtra, India.
Indian J Pediatr. 2003 Aug;70(8):671-3. doi: 10.1007/BF02724260.
Kocher-Debre-Semelaigne syndrome is a rare association of muscular pseudohypertrophy and hypothyroidism in children. We report two cases of this syndrome in this communication. The first case was a seven-years-old female who presented with features of hypothyroidism and muscle pseudohypertrophy. The second child had similar manifestations but was only fifteen months of age at diagnosis. This is one of the youngest patients reported to have the Kocher-Debre-Semelaigne syndrome. A short review of the literature is also presented.
科赫尔-德布雷-塞梅拉涅综合征是一种儿童期肌肉假性肥大与甲状腺功能减退罕见并存的疾病。我们在此报道两例该综合征病例。第一例为一名7岁女性，表现出甲状腺功能减退和肌肉假性肥大的特征。第二个患儿有类似表现，但诊断时仅15个月大。这是报道的患有科赫尔-德布雷-塞梅拉涅综合征最年幼的患者之一。本文还对相关文献进行了简要综述。
