Muenke Syndrome With Pigmentary Disorder and Probable Hemimegalencephaly: An Expansion of the Phenotype
Muenke Syndrome With Pigmentary Disorder and Probable Hemimegalencephaly: An Expansion of the Phenotype
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DOI：
10.1002/ajmg.a.33777
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发表时间：
2011-01-01
影响因子：
2
通讯作者：
Temtamy, Samia A.
中科院分区：
文献类型：
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作者：
Abdel-Salam, Ghada M. H.;Flores-Sarnat, Laura;Temtamy, Samia A.
我们描述了一个2岁的男孩出生于健康，血亲的父母。他有颅面不对称，左额叶隆起，面中部发育不全，眼球突出，耳位低。此外，他有卷曲的浅色头发，腹部、下肢和背部有椭圆形黑色素减少斑块，腹股沟有一个色素沉着斑块，无黑棘皮病。头颅三维CT扫描显示右冠状、矢状和矢状缝骨性结合。他在2个月大时的头颅MRI显示左侧半侧巨脑畸形、胼胝体发育不全和海马结构异常。尽管有这些颅骨检查结果，但他有轻度发育迟缓，神经系统检查显示力量、张力和反射对称。除热性惊厥外，无癫痫病史。先证者在18个月大时出现不对称性脑积水，需要行第三脑室造口术。术后头颅MRI示基亚里I样畸形，大脑半球不对称，但大脑皮质发育不良较少。FGFR 3的突变分析显示c.749C>G，p.Pro250Arg取代。据我们所知，这些表现还没有报道在Muenke综合征患者。(C)2010 Wiley-Liss，Inc.
We describe a 2-year-old boy born to healthy, consanguineous parents. He had craniofacial asymmetry with left frontal bossing, midface hypoplasia, proptosis, and low-set ears. In addition, he had curly, light hair, and oval hypomelanotic patches in the abdomen, lower limbs and back and one hyperpigmented patch in the groin without acanthosis nigricans. Cranial three-dimensional CT scan showed right-coronal, sagittal, and lambdoid suture synostoses. His cranial MRI at 2-months of age showed left hemimegalencephaly, hypoplasia of corpus callosum, and an abnormal configuration of hippocampus. In spite of these cranial findings, he had mild developmental delay and his neurological examination showed symmetric strength, tone and reflexes. Apart from febrile seizures, there was no history of epilepsy. The proband developed asymmetric hydrocephalus at the age of 18 months that required third ventriculostomy. Post-operative cranial MRI showed Chiari I-like malformation and asymmetry of cerebral hemispheres but less dysplastic cerebral cortex. Mutation analysis of FGFR3 showed a c.749C>G, p. Pro250Arg substitution. To the best of our knowledge, these manifestations have not been reported in patients with Muenke syndrome. (C) 2010 Wiley-Liss, Inc.