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 .

Diseases
Validation

Diseases presenting "neonatal period" symptom

alexander disease

alpha-thalassemia

benign recurrent intrahepatic cholestasis

congenital adrenal hyperplasia

congenital diaphragmatic hernia

congenital toxoplasmosis

cutaneous mastocytosis

dystrophic epidermolysis bullosa

epidermolysis bullosa simplex

harlequin ichthyosis

hirschsprung disease

homocystinuria without methylmalonic aciduria

junctional epidermolysis bullosa

kabuki syndrome

kallmann syndrome

kindler syndrome

lamellar ichthyosis

megacystis-microcolon-intestinal hypoperistalsis syndrome

monosomy 21

neonatal adrenoleukodystrophy

neuralgic amyotrophy

pyruvate dehydrogenase deficiency

zellweger syndrome

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