MR Imaging Features of Brain Stem Hypoplasia in Familial Horizontal Gaze Palsy and Scoliosis

A.V. dos Santos; S. Matias; P. Saraiva; A. Goul?o

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MR Imaging Features of Brain Stem Hypoplasia in Familial Horizontal Gaze Palsy and Scoliosis

机译：家族性水平注视性麻痹和脊柱侧弯的脑干发育不全的MR影像学特征

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Summary: We report the case of a child with horizontal gaze palsy, pendular nystagmus, and discrete thoracolumbar scoliosis. MR imaging of the brain depicted pons hypoplasia with an absence of the facial colliculi, hypoplasia, butterfly configuration of the medulla, and the presence of a deep midline pontine cleft (split pons sign). These MR imaging findings suggest familial horizontal gaze palsy with progressive kyphoscoliosis, a rare congenital disorder. To the best of our knowledge, MR imaging findings of only 4 similar cases, with or without progressive idiopathic scoliosis, have been reported. We discuss the pathogenesis substratum of this entity. Early recognition of this rare entity is important if supportive therapeutic measures in progressive scoliosis are to be applied.

机译：摘要：我们报告了一个儿童，该儿童患有水平注视麻痹，摆动性眼球震颤和离散的胸腰段脊柱侧弯。面部的丘脑毛，发育不全，延髓的蝶形和深中线桥脑裂（劈开桥的迹象）的存在。这些MR影像学发现提示家族性水平注视麻痹伴进行性脊柱后凸畸形，这是一种罕见的先天性疾病。据我们所知，仅4例有或没有进行性特发性脊柱侧凸的类似病例的MR影像学发现。我们讨论该实体的发病机理基质。如果要在进行性脊柱侧弯中采用支持性治疗措施，则尽早识别这种稀有实体非常重要。

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《American Journal of Neuroradiology》 |2006年第6期|00001382-00001383|共2页
作者
A.V. dos Santos; S. Matias; P. Saraiva; A. Goul?o;
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From the Department of Neuroradiology, Garcia de Orta Hospital, Almada, Portugal;

From the Department of Neuroradiology, Garcia de Orta Hospital, Almada, Portugal;

From the Department of Neuroradiology, Garcia de Orta Hospital, Almada, Portugal;

From the Department of Neuroradiology, Garcia de Orta Hospital, Almada, Portugal;

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1. MR Imaging of Brain-Stem Hypoplasia in Horizontal Gaze Palsy with Progressive Scoliosis [J] . Andrea Rossi, Martin Catala, Roberta Biancheri, American Journal of Neuroradiology . 2004,第6期

机译：进行性脊柱侧弯的水平注视性麻痹脑干发育不全的MR成像
2. Familial Horizontal Gaze Palsy With Progressive Scoliosis [J] . Rohani Mohammad, Almasi Mostafa, Sanjari Mostafa Soltan Pediatric neurology . 2016,第期

机译：家族水平凝视麻痹与进步脊柱侧凸
3. Diffusion tensor imaging in horizontal gaze palsy with progressive scoliosis [J] . Avadhani A, Ilayaraja V, Shetty AP, Magnetic resonance imaging: An International journal of basic research and clinical applications . 2010,第2期

机译：进行性脊柱侧弯的水平凝视麻痹的扩散张量成像
4. Parent Perception of Two Eye-Gaze Control Technology Systems in Young Children with Cerebral Palsy: Pilot Study [C] . Petra KARLSSON, Margaret WALLEN European Conference of the Association for the Advancement of Assistive Technology in Europe . 2017

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5. Diffuse optical imaging of brain function under repetitive transcranial magnetic stimulation and in children with cerebral palsy. [D] . Dhamne, Sameer C. 2009

机译：重复经颅磁刺激和脑瘫患儿脑功能的漫射光学成像。
6. MR Imaging Features of Brain Stem Hypoplasia in Familial Horizontal Gaze Palsy and Scoliosis [O] . A.V. dos Santos, S. Matias, P. Saraiva, 2006

机译：脑干发育不全的MR成像特征在家族水平凝视麻痹和脊柱侧凸
7. Further diffusion tensor imaging contribution in horizontal gaze palsy and progressive scoliosis Contribuição adicional das imagens por tensores de difusão em paralisia do olhar conjugado horizontal associada a escoliose progressiva [O] . Maria Conceptión García Otaduy, Claudia da Costa Leite, Lídia Mayumi Nagae, 2009

机译：在水平纱布麻痹和进行性脊柱侧弯中进一步扩散张量成像的贡献在水平共轭凝视麻痹与进行性脊柱侧弯相关的扩散张量的其他图像贡献

MR Imaging Features of Brain Stem Hypoplasia in Familial Horizontal Gaze Palsy and Scoliosis

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