[Severe form of hereditary neuralgic amyotrophy without SEPT9 gene mutation].
BACKGROUND
Hereditary neuralgic amyotrophy (HNA) is a rare condition characterized by recurrent episodes of painful paralysis preferentially affecting the brachial plexus. It is often linked to a mutation in the SEPT9 gene.


METHODS
A 69-year-old female patient experienced a dozen episodes of severe neurological deficit mainly affecting the brachial plexus and the phrenic and recurrent nerves. The diagnosis of HNA without SEPT9 gene mutation was retained.


CONCLUSIONS
HNA can have significant sequelae. A genetic heterogeneity exists and mutations in the SEPT9 gene may not be found. Immunomodulatory and corticosteroid treatments have sometimes proved to be effective.
Cosson
A
A
Service d'explorations et pathologies neuromusculaires, hôpital Jean-Minjoz, CHU, 3, boulevard Fleming, 25030 Besançon cedex, France. acosson@chu-besancon.fr
Mathieu
A
A
Sevrin
P
P
Nollet
S
S
Tatu
L
L
D000368:Aged; D000893:Anti-Inflammatory Agents / Q000627:therapeutic use; D020968:Brachial Plexus Neuritis / Q000209:etiology* / Q000235:genetics* / Q000473:pathology; D055154:Dysphonia / Q000209:etiology; D004417:Dyspnea / Q000209:etiology; D006801:Humans; D007166:Immunosuppressive Agents / Q000627:therapeutic use; D008297:Male; D008775:Methylprednisolone / Q000627:therapeutic use; D009154:Mutation / Q000235:genetics; D010243:Paralysis / Q000209:etiology; D010791:Phrenic Nerve / Q000473:pathology; D058112:Septins / Q000235:genetics*
D000893:Anti-Inflammatory Agents; D007166:Immunosuppressive Agents; C474315:SEPTIN9 protein, human; D058112:Septins; D008775:Methylprednisolone