ISSN 1306-0015 | E-ISSN 1308-6278
Case Report
A rare casue of brachial plexopathy: hereditary neuralgic amyotrophy
1 Department of Pediatrics, Division of Pediatric Neurology, Ege University School of Medicine, İzmir, Turkey  
Turk Pediatri Ars ; : -
DOI: 10.5152/TurkPediatriArs.2018.5837
Key Words: Hereditary neuralgic amyotrophy, SEPT 9, vaccination
Abstract

 

Neuralgic amyotrophy is characterized by recurrent, painful, unilateral neuropathy involving mainly the upper brachial plexus followed by muscle weakness and muscle wasting.   There are two forms, both idiopathic and hereditary. The autosomal dominant form is called as hereditary neuralgic amyotrophy is often linked to a mutation of SEPT9, a gene of the Septin family. The phenotypic spectrum of the disease may include hypotelorism, cleft palate, and other minor dysmorphisms. The age of onset is from infancy to adulthood. Hereditary neuralgic amyotrophy can be triggered by external stimuli such as infections, vaccinations, cold, stress, surgery, strenuous exercise.  Here we report a six-year-old girl with hereditary neuralgic amyotrophy  due to recurrent attacks of painful brachial plexopathy after vaccinations with a mutation of SEPT9.

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