Neonatal vocal cord paralysis-an early presentation of hereditary neuralgic amyotrophy due to a mutation in the SEPT9 gene

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• 作者：E. Leshinsky-Silver^a ; ^e ; ^{leshinsky@wolfson.health.gov.il} ; M. Ginzberg^b ; R. Dabby^c ; ^e ; M. Sadeh^c ; ^e ; D. Lev^d ; ^e ; T. Lerman-Sagie^b ; ^e
• 关键词：HNA ; SEPT9 ; Neonate ; Vocal cord ; Paralysis
• 刊名：European Journal of Paediatric Neurology
• 出版年：2013
• 出版时间：January, 2013
• 年：2013
• 卷：17
• 期：1
• 页码：64-67
• 全文大小：346 K

文摘

Hereditary neuralgic amyotrophy is a rare autosomal dominant disorder involving recurrent episodes of painful brachial plexus neuropathies. Involvement of other nerves has been described in some families. The age of onset is from infancy to adulthood. Mutations in the SEPT9 gene were identified in approximately half of the hereditary neuralgic amyotrophy families.

We evaluated a family with six affected members from three generations with a point mutation in the SEPT9 gene. One of the patients presented in the neonatal period with vocal cord paralysis necessitating intubation and prolonged ventilation.

The neonatal presentation of vocal cord paralysis broadens the phenotypic spectrum of hereditary neuralgic amyotrophy. The identification of a SEPT9 mutation in a neonate with respiratory distress due to vocal cord paralysis expands the differential diagnosis in these patients.