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[先天性重症肌无力。以吞咽困难为唯一临床表现的病例报告]

[Congenital myasthenia gravis. Presentation of a case with dysphagia as the only clinical manifestation].

作者信息

Calderón-González R, Alonso-Rivera C G, Elizondo-Vázquez J, Calderón-Sepúlveda R

机构信息

Centro Neurológico para Niños y Adolescentes (CENNA), Nuevo León, México.

出版信息

Bol Med Hosp Infant Mex. 1990 Dec;47(12):851-5.

PMID:2098041
Abstract

Myasthenia gravis is an infrequent disease seen at the neonatal stage. Two main groups are identified: a) one with a genetic origin which can be secondary to pre- or postsynaptic defects and b) of an acquired origin, as transitory neonatal myasthenia seen in 10-15% of those children with myasthenic mothers. Few cases with a genetic origin have been reported in the literature; the most common symptoms being bilateral eyelid ptosis, ophtalmoparesis, easy fatigability, respiratory and feeding difficulties. This is a report of a genetic neonatal case of myasthenia gravis with dysphagia as the only clinical manifestation seen since the first days of the child's life, confirming the diagnosis using a repetitive supramaximal stimulation test and obtaining excellent results with pyridostigmine. We conclude that, although this a rare form of the disease, genetic neonatal myasthenia gravis should be considered in the differential diagnosis of newborns with difficulties to swallow. The repetitive supramaximal stimulation test is the diagnostic procedure of first choice to be used in the neonatal period.

摘要

重症肌无力是新生儿期罕见的疾病。主要分为两组:a)一组是遗传起源,可能继发于突触前或突触后缺陷;b)另一组是后天起源,如在10%-15%患有重症肌无力母亲的患儿中出现的短暂性新生儿重症肌无力。文献中报道的遗传起源病例很少;最常见的症状是双侧眼睑下垂、眼肌麻痹、易疲劳、呼吸和喂养困难。本文报告了一例以吞咽困难为唯一临床表现的遗传性新生儿重症肌无力病例,该患儿自出生第一天起就出现此症状,通过重复超强刺激试验确诊,并使用吡啶斯的明取得了良好效果。我们得出结论,虽然这是该病的一种罕见形式,但在吞咽困难的新生儿鉴别诊断中应考虑遗传性新生儿重症肌无力。重复超强刺激试验是新生儿期首选的诊断方法。

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