Blachowska Ewa, Petriczko Elżbieta, Horodnicka-Józwa Anita, Skórka Agata, Pelc Magdalena, Krajewska-Walasek Małgorzata, Walczak Mieczysław
Department of Pediatrics, Endocrinology, Diabetology, Metabolic Diseases and Cardiology of the Developmental Age, Pomeranian Medical University in Szczecin, Ulica Unii Lubelskiej 1, 71-252, Szczecin, Poland.
Department of Medical Genetics, The Children's Memorial Health Institute, Warsaw, Poland.
Ital J Pediatr. 2016 Jan 26;42:10. doi: 10.1186/s13052-015-0209-4.
Costello syndrome is a rare syndrome of multiple congenital anomalies. The typical clinical traits include dysmorphic craniofacial features, skin hyperpigmentation and excess, feeding difficulties leading to severe postnatal growth retardation, short stature, joint hypermobility, and delayed psychomotor development. Additionally, Costello syndrome may present with an increased incidence of congenital heart disease, hypertrophic cardiomyopathy, and increased risk of both benign and malignant tumors. Furthermore, cases of patients with endocrine disorders such as adrenal insufficiency and endogenous growth hormone deficiency have also been documented.
We present a patient with Costello syndrome who has been successfully treated with recombinant human growth hormone (rhGH) for almost 4 years.
The possibility of growth hormone (GH) treatment can be considered in cases of documented GH deficiency in patients with Costello syndrome, but only under close oncologic and cardiologic supervision.
科斯特洛综合征是一种罕见的多发性先天性异常综合征。典型的临床特征包括颅面部畸形、皮肤色素沉着过多和增生、喂养困难导致严重的出生后生长迟缓、身材矮小、关节活动过度以及精神运动发育迟缓。此外，科斯特洛综合征可能伴有先天性心脏病、肥厚型心肌病的发病率增加，以及良性和恶性肿瘤的风险增加。此外，也有记录到患有内分泌疾病如肾上腺功能不全和内源性生长激素缺乏的患者病例。
我们报告一名患有科斯特洛综合征的患者，该患者已接受重组人生长激素（rhGH）成功治疗近4年。
对于有记录的科斯特洛综合征患者生长激素（GH）缺乏的情况，可以考虑生长激素（GH）治疗的可能性，但仅在密切的肿瘤学和心脏病学监测下进行。
