Hereditary neuropathy with liability to pressure palsy.
نویسندگان
چکیده
Hereditary neuropathy with liability to pressure palsy (HNPP) is an autosomal dominant disease with sensory and motor nerve palsies usually precipitated by trivial trauma or compression. In the majority of cases HNPP is caused by deletion of the peripheral myelin protein 22 gene (PMP22) on chromosome 17p11.2. The authors present a family case with genetically proven HNPP.
منابع مشابه
Hereditary Neuropathy With Liability to Pressure Palsies: A Single-Center Experience in Southern Brazil
The spectrum of clinical and electrophysiological features in hereditary neuropathy with liability to pressure palsies (HNPP) is broad. We analyze a series of Brazilian patients with HNPP. Correlations between clinical manifestations, laboratory features, electrophysiological analyze, histological and molecular findings were done. In five cases, more than one episode occurred before diagnosis. ...
متن کاملHereditary Neuropathy with Liability to Pressure Palsy Presenting as an Acute Brachial Plexopathy: A Lover's Palsy
It is generally regarded that patients with hereditary neuropathy to pressure palsies, due to a deletion in the PMP22 gene, show recurrent pressure palsy and generalised peripheral neuropathy (pes cavus and hammer toes sometimes develop). Brachial plexopathy is rarely identified as a first presentation of hereditary neuropathy to pressure palsies. We describe a young man who developed a painles...
متن کاملTwo Cases of Elderly-Onset Hereditary Neuropathy with Liability to Pressure Palsy Manifesting Bilateral Peroneal Nerve Palsies
Hereditary neuropathy with liability to pressure palsy (HNPP) is characterized by recurrent focal neuropathies, which usually become symptomatic in the second or third decade of life. However, clinical phenotypic heterogeneity among patients with HNPP has recently been reported. Certain patients show polyneuropathy-type diffuse nerve injuries, whereas others remain asymptomatic at older ages. W...
متن کاملHereditary Neuropathy with Liability to Pressure Palsy Presenting with Hand Drop in a Young Child
Hereditary neuropathy with liability to pressure palsy (HNPP) results from the deletion of the PMP22 gene in chromosome 17p11.2. Clinically, it presents with painless pressure palsies, typically in the 2nd and 3rd decades of life, being a rare entity in childhood. We present the case study of a six-year-old male child who presented with left hand drop that he kept for over four weeks. Electroph...
متن کاملHereditary neuropathy with liablity to pressure palsies.
Hereditary neuropathy with liability to pressure palsies (HNPP) is a disease that presents with recurrent reversible episodes of neurapraxia that occur typically after trivial trauma. It is an autosomal dominant, demyelinating neuropathy. A 20-year-old man presented with left ulnar nerve palsy after a fall. He had reduced two-point discrimination over his left ulnar nerve distribution, with mil...
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ورودعنوان ژورنال:
- Harefuah
دوره 116 7 شماره
صفحات -
تاریخ انتشار 1989