Hereditary neuropathy with liability to pressure palsies in a Turkish patient (HNPP)
Küçük Resim Yok
Tarih
2008
Dergi Başlığı
Dergi ISSN
Cilt Başlığı
Yayıncı
Turkish Neurosurgical Soc
Erişim Hakkı
info:eu-repo/semantics/closedAccess
Özet
Hereditary neuropathy with liability to pressure palsies (HNPP) is an autosomal dominant nerve disease usually caused by 1,5 Mb deletion on chromosome 17p11.2.2-p12, the region where the PMP-22 gene is located. The patients with HNPP usually have relapsing and remitting entrapment neuropathies due to compression. We present a 14-year-old male who had acute onset, right-sided ulnar nerve entrapment at the elbow. He had electrophysiological findings of bilateral ulnar nerve entrapments (more severe at the right side) at the elbow and bilateral median nerve entrapment at the wrist. Genetic tests of the patient demonstrated deletions in the 17p11.2 region. The patient underwent decompressive surgery for ulnar nerve entrapment at the elbow and completely recovered two months after the event. Although HNPP is extremely rare, it should be taken into consideration in young adults with entrapment neuropathies.
Açıklama
Anahtar Kelimeler
HNPP, Entrapment Neuropathy, DNA Analysis, Deletion
Kaynak
Turkish Neurosurgery
WoS Q Değeri
N/A
Scopus Q Değeri
Cilt
18
Sayı
1
