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[复发性家族性臂丛性肌萎缩性神经痛。一家系报告并文献复习]

[Recurrent familial amyotrophic neuralgia of the brachial plexus. Report of a family and review of the literature].

作者信息

Zuazo Zamalloa E, Pomposo Bolumburu I, Garaizár Axpe C, Prats Viñas J M

机构信息

Departamento de Pediatría, Hospital de Cruces, Vizcaya.

出版信息

An Esp Pediatr. 1992 Jul;37(1):47-51.

PMID:1416523
Abstract

A family with hereditary neuralgic amyotrophy of the brachial plexus throughout three generations is described. Outstanding features are early onset occurring during childhood or adolescence, unlike the idiopatic sporadic form of the disease, and the association with a peculiar physiognomy that reminds one of the facial expression found in Modigliani's paintings. Clinical evolution is not always favorable since relapses and long-lasting sequelae are common. The disease is inherited through an autosomal dominant gene with high penetrance and the neuropathy is always associated with the phenotypic features. The possible relationship with other pathological entities of very different clinical expression, such as tomacular neuropathy, is discussed, as well as the distinguishing peculiarities between the inherited and the sporadic forms of brachial plexus neuropathy.

摘要

本文描述了一个三代人都患有遗传性臂丛神经痛性肌萎缩的家族。突出特点是发病早,多在儿童期或青春期发病,这与散发性特发性疾病形式不同,且伴有一种特殊的面容,使人联想到莫迪利亚尼画作中的面部表情。临床病程并非总是良好,因为复发和长期后遗症很常见。该病通过具有高外显率的常染色体显性基因遗传,神经病变总是与表型特征相关。文中讨论了它与其他临床表现差异很大的病理实体(如黄斑神经病)的可能关系,以及遗传性和散发性臂丛神经病形式之间的区别特点。

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