伊马替尼治疗幼儿pdgfrb相关Penttinen综合征

IF 4.4 3区 医学 Q2 GENETICS & HEREDITY
Molly McPheron, Katelyn Burns, Tara L Wenger
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引用次数: 0

摘要

pdgfrb相关的Penttinen综合征以进行性类老年性特征、肢端骨溶解、动脉瘤发展、后窝结构异常、可变肌纤维瘤病和过度生长为特征。pdgfrb相关疾病,包括Penttinen综合征、Kosaki综合征和婴儿肌纤维瘤病,已成功使用伊马替尼治疗。在这里,我们报告了一个在婴儿期诊断的儿童,他在8个月大时开始伊马替尼单药治疗,并持续治疗了4年。诊断时,患者后窝结构异常,毛发稀疏,关节僵硬,肌纤维瘤病,皮肤薄而脆弱,皮下脂肪减少,血管突出。伊马替尼耐受性良好,无明显副作用。在开始使用伊马替尼后的几周到几个月内,他长出了浓密的卷发,皮肤质地和关节僵硬度都有了明显改善。在过去的4年里,他没有发生肢端骨溶解症,头发继续正常生长。监测MRA未发现动脉瘤或血管扩张。身高从第90个百分位下降到第75个百分位。他有轻微的发育迟缓,正在等待自闭症谱系障碍的正式评估。总体而言,早期伊马替尼治疗在改善和预防Penttinen综合征某些特征的发展方面取得了成功。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Treatment of PDGFRB-Related Penttinen Syndrome With Imatinib in a Young Child.

PDGFRB-related Penttinen syndrome is characterized by progressive progeroid features, acroosteolysis, and development of aneurysms, structural anomalies of the posterior fossa, variable myofibromatosis, and overgrowth. PDGFRB-related disorders, including Penttinen syndrome, Kosaki syndrome, and infantile myofibromatosis, have been successfully treated using imatinib. Here, we report a child diagnosed in infancy who initiated imatinib monotherapy at 8 months of age and has continued treatment for 4 years. At the time of diagnosis, he was known to have structural anomalies of the posterior fossa, sparse hair, joint stiffness, myofibromatosis, thin and fragile skin, decreased subcutaneous fat, and prominent vasculature. Imatinib has been well tolerated without apparent side effects. Within weeks to months after initiating imatinib, he grew thick curly hair, and the texture of his skin and joint stiffness had marked improvement. Over the past 4 years, he has not developed acroosteolysis and continues to have normal hair growth. Surveillance MRA has not identified aneurysms or vessel ectasia. Height decreased from 90th to 75th percentile. He has mild developmental delays and is awaiting formal evaluation for autism spectrum disorder. Overall, early imatinib treatment has been successful in ameliorating and preventing the development of some features of Penttinen syndrome.

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来源期刊
CiteScore
7.00
自引率
0.00%
发文量
42
审稿时长
>12 weeks
期刊介绍: Seminars in Medical Genetics, Part C of the American Journal of Medical Genetics (AJMG) , serves as both an educational resource and review forum, providing critical, in-depth retrospectives for students, practitioners, and associated professionals working in fields of human and medical genetics. Each issue is guest edited by a researcher in a featured area of genetics, offering a collection of thematic reviews from specialists around the world. Seminars in Medical Genetics publishes four times per year.
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