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

[neuralgic amyotrophy]

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 SEPT 9 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 SEPT 9 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 SEPT 9 mutation in a neonate with respiratory distress due to vocal cord paralysis expands the differential diagnosis in these patients .