Eisenberg E, Baron S, Ludicer R
Harefuah. 1989 Apr 2;116(7):345-7.
Hereditary neuropathy with liability to pressure palsy (HNPP) is a rare nosological entity with 4 characteristics: autosomal dominant inheritance; clinical presentation as mononeuropathy simplex or multiplex, often related to minor trauma; significant slowing of motor and sensory conduction in both clinically affected and unaffected nerves; and characteristic morphological findings on sural nerve biopsy, including "tomaculous" swelling of myelin sheaths, transnodal myelination and segmental demyelination. The pathogenesis of HNPP is unknown. Clinical and neuropathological investigations were carried out in 7 members of a family with HNPP, and sural nerve biopsy in 1. The findings are related to those of about 50 families published in the literature.
遗传性压力易感性周围神经病（HNPP）是一种罕见的疾病实体，具有4个特征：常染色体显性遗传；临床表现为单发性或多发性单神经病，常与轻微创伤有关；临床受累和未受累神经的运动和感觉传导均显著减慢；腓肠神经活检有特征性形态学表现，包括髓鞘的“腊肠样”肿胀、结旁髓鞘形成和节段性脱髓鞘。HNPP的发病机制尚不清楚。对一个患有HNPP的家族中的7名成员进行了临床和神经病理学研究，并对其中1名成员进行了腓肠神经活检。这些发现与文献中报道的约50个家族的发现相关。
