AI Summary & Key Takeaways
AI InsightHere, we report a six-year-old girl who was found to have mutation in the SEPT9 gene when she presented with recurrent attacks of painful brachial plexopathy following vaccinations, and was diagnosed as having hereditary neuralgic amyotrophy.
📌 3 Key Takeaways
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: idiopathic and hereditary. Hereditary neuralgic amyotrophy is an autosomal dominant disease that 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, and strenuous exercise. Here, we report a six-year-old girl who was found to have mutation in the SEPT9 gene when she presented with recurrent attacks of painful brachial plexopathy following vaccinations, and was diagnosed as having hereditary neuralgic amyotrophy.
Özet
Nevraljik amiyotrofi, başlıca üst brakial pleksusu tutan ve sonrasında kas güçsüzlüğü gelişen, tekrarlayıcı, ağrılı, tek taraflı nöropatidir. İdiopatik ve herediter olmak üzere iki formu vardır. Otozomal dominant formuna Herediter Nevraljik Amiyotrofi adı verilir ve septin ailesinin bir geni olan SEPT9 mutasyonuyla bağlantılıdır. Hastalığın fenotipik spektrumu hipotelorizm, yarık damak ve diğer minor dismorfizmleri içerebilir. Başlangıç yaşı bebeklikten yetişkinliğe kadar herhangi bir dönemde olabilir. Herediter nevraljik amyotrofi, enfeksiyonlar, aşılar, soğuk, stres, ameliyat, şiddetli egzersiz gibi dış uyaranlarla tetiklenebilir. Burada, aşılamalardan sonra ağrılı brakiyal pleksopati ataklarının tekrarlaması nedeniyle SEPT9 geninde mutasyon saptanan ve herediter nevraljik amyotrofi tanısı konulan altı yaşındaki bir kız olgu sunulmuştur.