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

European Journal of Paediatric Neurology

Volumn 17, Issue 1, 2013, Pages 64-67

  Leshinsky Silver, E ^a,b   Ginzberg, M ^a   Dabby, R ^a,b   Sadeh, M ^a,b   Lev, D ^a,b   Lerman Sagie, T ^a,b  

^a WOLFSON MEDICAL CENTER   (Israel)

^b TEL AVIV UNIVERSITY   (Israel)

Author keywords

HNA; Neonate; Paralysis; SEPT9; Vocal cord

Indexed keywords

CELL PROTEIN; IMMUNOGLOBULIN; NERVE PROTEIN; SEPT9 PROTEIN; UNCLASSIFIED DRUG;

AIRWAY OBSTRUCTION; ARTICLE; ARTIFICIAL VENTILATION; AUTOSOMAL DOMINANT DISORDER; BRACHIAL PLEXUS NEUROPATHY; BRONCHOSCOPY; CASE REPORT; CHILD; DIFFERENTIAL DIAGNOSIS; DYSPHONIA; FAMILIAL DISEASE; FEEDING DISORDER; FEVER; HEREDITARY NEURALGIC AMYOTROPHY; HUMAN; HYPOTELORISM; INTUBATION; LARYNGOSCOPY; MALE; MUSCLE HYPOTONIA; MUTATIONAL ANALYSIS; PHENOTYPE; POINT MUTATION; PRESCHOOL CHILD; PRIORITY JOURNAL; RADIAL NERVE PALSY; RESPIRATORY DISTRESS; STRIDOR; TACHYPNEA; VOCAL CORD PARALYSIS;

BRACHIAL PLEXUS NEURITIS; CHILD, PRESCHOOL; FEMALE; HUMANS; INFANT, NEWBORN; MALE; MUTATION; PEDIGREE; SEPTINS; VOCAL CORD PARALYSIS;

EID: 84872101310     PISSN: 10903798     EISSN: 15322130     Source Type: Journal    
DOI: 10.1016/j.ejpn.2012.08.006     Document Type: Article

References (9)

1. N. van Alfen, and B.G. van Engelen The clinical spectrum of neuralgic amyotrophy in 246 cases Brain 129 2006 438 450
2. G.D. Watts, K.C. O'Briant, T.E. Borreson, A.J. Windebank, and P.F. Chance Evidence for genetic heterogeneity in hereditary neuralgic amyotrophy Neurology 56 2001 675 678
3. M. Ueda, N. Kawamura, T. Tateishi, N. Sakae, and K. Motomura Phenotypic spectrum of hereditary neuralgic amyotrophy caused by the SEPT9 R88W mutation J Neurol Neurosurg Psychiatry 81 2001 94 96
4. G. Kuhlenbäumer, M.C. Hannibal, E. Nelis, and A. Schirmacher Verpoorten N.Mutations in SEPT9 cause hereditary neuralgic amyotrophy Nat Genet 37 2005 1044 1046
5. M.C. Hannibal, E.K. Ruzzo, L.R. Miller, B. Betz, and J.G. Buchan SEPT9 gene sequencing analysis reveals recurrent mutations in hereditary neuralgic amyotrophy Neurology 72 2009 1755 1759
6. A.L. de Jong, R.B. Kuppersmith, M. Sulek, and E.M. Friedman Vocal cord paralysis in infants and children Otolaryngol Clin North Am 33 2000 131 149
7. K. Khodaei, A. Howarth, R. Karkanevatos, and A. Clarke Fryer, hereditary vocal cord palsy Int J Pediatr Otorhinolaryngol 6 2003 427 428
8. M. Mace, E. Williamson, and D. Worgan Autosomal dominantly inherited adductor laryngeal paralysis-a new syndrome with a suggestion of linkage to HLA Clin Genet 14 1978 265 270
9. K. Sudo, H. Ito, I. Iwamoto, R. Morishita, and T. Asano SEPT9 sequence alternations causing hereditary neuralgic amyotrophy are associated with altered interactions with SEPT4/SEPT11 and resistance to Rho/Rhotekin-signaling Hum Mutat 28 2007 1005 1013