Choi Jin-Ho, Oh Moon-Yeon, Yum Mi-Sun, Lee Beom Hee, Kim Gu-Hwan, Yoo Han-Wook
Department of Pediatrics, Asan Medical Center Children's Hospital, University of Ulsan College of Medicine, Seoul, Korea.
Medical Genetics Center, Asan Medical Center Children's Hospital, University of Ulsan College of Medicine, Seoul, Korea.
Pediatr Neurol. 2015 Mar;52(3):352-5. doi: 10.1016/j.pediatrneurol.2014.11.017. Epub 2014 Dec 3.
Noonan-like syndrome with loose anagen hair is one of the RASopathies characterized by Noonan syndrome-like features with unique ectodermal abnormalities. This syndrome is caused by mutations in the SHOC2 gene. We encountered a patient with moyamoya syndrome associated with Noonan-like syndrome with loose anagen hair presenting with transient ischemic attacks.
A 6-year-old girl was diagnosed with Noonan-like syndrome with loose anagen hair because of profound short stature and ectodermal anomalies such as sparse and easily pluckable hair. A heterozygous mutation of c.4A>G (p.S2G) in the SHOC2 gene was identified, and recombinant human growth hormone therapy was initiated at 8 years of age. At age 10, she manifested recurrent left hemiplegia. Moreover, cerebrovascular imaging revealed occlusion or narrowing of both internal carotid arteries and both middle cerebral arteries with distal moyamoya-like vessels. She is treated with aspirin and calcium channel blocker.
We describe the first case of Noonan-like syndrome with loose anagen hair associated with moyamoya syndrome, although it has been reported to be associated with a few cases of other RASopathies, including Noonan, cardiofaciocutaneous, and Costello syndromes. This report emphasizes the associations between cerebrovascular anomalies and Noonan-like syndrome with loose anagen hair.
毛发松动型努南样综合征是RAS病之一，其特征为具有独特外胚层异常的努南综合征样表现。该综合征由SHOC2基因突变引起。我们遇到了一名患有毛发松动型努南样综合征合并烟雾病综合征的患者，表现为短暂性脑缺血发作。
一名6岁女孩因严重身材矮小和外胚层异常（如头发稀疏且易拔除）被诊断为毛发松动型努南样综合征。在SHOC2基因中鉴定出c.4A>G（p.S2G）的杂合突变，并在8岁时开始进行重组人生长激素治疗。10岁时，她出现反复左侧偏瘫。此外，脑血管成像显示双侧颈内动脉和双侧大脑中动脉闭塞或狭窄，伴有远端烟雾病样血管。她接受阿司匹林和钙通道阻滞剂治疗。
我们描述了首例毛发松动型努南样综合征合并烟雾病综合征的病例，尽管此前已有报道该综合征与包括努南综合征、心面皮肤综合征和科斯特洛综合征在内的其他一些RAS病相关。本报告强调了脑血管异常与毛发松动型努南样综合征之间的关联。
