[Severe form of hereditary neuralgic amyotrophy without SEPT9 gene mutation].

[neuralgic amyotrophy]

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 SEPT 9 Â gene .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 SEPT 9 Â gene mutation was retained .HNA can have significant sequelae . A genetic heterogeneity exists and mutations in the SEPT 9 Â gene may not be found . Immunomodulatory and corticosteroid treatments have sometimes proved to be effective .

Diseases
Validation

Diseases presenting "recurrent episodes" symptom

acute rheumatic fever

adrenomyeloneuropathy

benign recurrent intrahepatic cholestasis

child syndrome

cholangiocarcinoma

cystinuria

familial mediterranean fever

hydrocephalus with stenosis of the aqueduct of sylvius

kabuki syndrome

neuralgic amyotrophy

pyruvate dehydrogenase deficiency

systemic capillary leak syndrome

triple a syndrome

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