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梅比厄斯综合征:一种罕见病症还是漏诊?

Moebius Syndrome: A Rare Entity or a Missed Diagnosis?

作者信息

Chowdhury Sreetama, Sarkar Shatanik, Guha Debasree, Dasgupta Malay K

机构信息

Department of Paediatric Medicine, R. G. Kar Medical College and Hospital, Kolkata, West Bengal, India.

Department of Paediatric Medicine, KPC Medical College & Hospital, Kolkata, West Bengal, India.

出版信息

J Pediatr Neurosci. 2020 Apr-Jun;15(2):128-131. doi: 10.4103/jpn.JPN_72_19. Epub 2020 Jun 27.

Abstract

Moebius syndrome is a rare congenital neurological disease, nonprogressive in nature, characterized by weakness or palsy of multiple cranial nerves, most often the sixth and seventh cranial nerves. Third and twelfth cranial nerves are also frequently involved. Infants presenting with similar presentation are often misdiagnosed because the facial palsy is commonly attributed to other causes such as birth trauma. Here, we present a 6-week-old infant presenting with poor weight gain and feeding problem, ultimately stamped as Moebius syndrome on the basis of clinical findings suggestive of multiple cranial nerve palsies without any apparent cause.

摘要

梅比厄斯综合征是一种罕见的先天性神经疾病,本质上是非进行性的,其特征是多条颅神经出现无力或麻痹,最常见的是第六和第七颅神经。第三和第十二颅神经也经常受累。出现类似症状的婴儿常常被误诊,因为面瘫通常被归因于其他原因,如产伤。在此,我们报告一名6周大的婴儿,出现体重增加不佳和喂养问题,最终根据提示多条颅神经麻痹且无明显病因的临床发现被诊断为梅比厄斯综合征。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/6373/7519742/766b5c102cbc/JPN-15-128-g001.jpg

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