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

Diseases
Validation

Diseases presenting "year-old female patient" symptom

adrenal incidentaloma

aniridia

benign recurrent intrahepatic cholestasis

cowden syndrome

cushing syndrome

epidermolysis bullosa simplex

esophageal squamous cell carcinoma

holt-oram syndrome

krabbe disease

lamellar ichthyosis

liposarcoma

lymphangioleiomyomatosis

malignant atrophic papulosis

monosomy 21

neuralgic amyotrophy

oculocutaneous albinism

oligodontia

oral submucous fibrosis

proteus syndrome

pyomyositis

sneddon syndrome

thoracic outlet syndrome

triple a syndrome

von hippel-lindau disease

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