Moyamoya Syndrome in a Patient With Noonan-like Syndrome With Loose Anagen Hair
Moyamoya Syndrome in a Patient With Noonan-like Syndrome With Loose Anagen Hair
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DOI：
10.1016/j.pediatrneurol.2014.11.017
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发表时间：
2015-03-01
影响因子：
3.8
通讯作者：
Yoo, Han-Wook
中科院分区：
文献类型：
--
作者：
Choi, Jin-Ho;Oh, Moon-Yeon;Yoo, Han-Wook
BACKGROUND: 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. PATIENT DESCRIPTION: 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. CONCLUSIONS: 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.
