A Case with Hereditary Neuropathy with Liability to Pressure Palsy
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Tarih
2013
Dergi Başlığı
Dergi ISSN
Cilt Başlığı
Yayıncı
Derman Medical Publ
Erişim Hakkı
info:eu-repo/semantics/openAccess
Özet
Hereditary neuropathy with liability to pressure palsy (HNPP) is an autosomal dominant disease which characterized by recurrent mononeuropathies with focal sensory or motor disturbance precipitated by minor trauma or compression. Clinically, it generally presents with painless pressure palsies, typically in the 2nd and 3rd decades of life, being a rare entity in childhood. We reported a case study of a 22 year-old female who presenting with low back pain, After detection of an Achilles reflex loss in her neurological examination and electrophysiological studies and genetic investigation was done than she diagnosed with HNPP. We want to emphasize that, the diagnosis of hereditary neuropathy with liability to pressure palsy is often delayed because it is rare in the practice of medicine and confused with polyneuropathy, careful neurological examination may be the most important factor in the diagnosis.
Açıklama
Anahtar Kelimeler
Hereditary Neuropathy with Liability to Pressure Palsy; Mononeuropathy; Peripheral Myelin Protein22
Kaynak
Journal of Clinical and Analytical Medicine
WoS Q Değeri
N/A
Scopus Q Değeri
Cilt
4
