scholarly journals Sonographic Evaluation of the Peripheral Nerves in Hereditary Neuropathy With Liability to Pressure Palsies: A Case Report

2014 ◽  
Vol 38 (1) ◽  
pp. 109 ◽  
Author(s):  
Se Hwa Kim ◽  
Seung Nam Yang ◽  
Joon Shik Yoon ◽  
Bum Jun Park
2007 ◽  
Vol 3 (2) ◽  
pp. 208-212 ◽  
Author(s):  
Marc J. Grossman ◽  
Joseph Feinberg ◽  
Edward F. DiCarlo ◽  
Sherri B. Birchansky ◽  
Scott W. Wolfe

2021 ◽  
Vol 13 (4) ◽  
pp. 116-122
Author(s):  
A. K. Polynnikova ◽  
O. E. Zinovyeva ◽  
O. A. Solokha ◽  
E. V. Misyuryaeva

Hereditary neuropathy with liability to pressure palsies (HNPP) is a rare hereditary disorder characterized by recurrent episodes of nerve compression. The first attack usually occurs in the second or third decade of life. In the majority of cases, HNPP is associated with a mutation at chromosome 17 p11.2-12 comprising the gene encoding peripheral myelin protein 22 (PMP22). Here we present a case report of a 43-year-old male with HNPP confirmed by DNA testing. The patient complained of recurrent episodes of bilateral foot extensor muscles weakness and/or hyperesthesia on the outer surface of the hands and forearms, which started after a prolonged posture maintaining and without evident precipitating factors. We also describe typical clinical, electrophysiological, and nerve ultrasound characteristics of the disease.


2018 ◽  
Vol 6 (5) ◽  
pp. 141-142
Author(s):  
Tatsuya Sato ◽  
Risa Maekawa ◽  
Akihiko Mitsutake ◽  
Junko Katsumata ◽  
Tomonari Seki ◽  
...  

2021 ◽  
Vol 12 ◽  
Author(s):  
Lisa De Kock ◽  
Fréderic Van der Cruyssen ◽  
Leonore Gruijthuijsen ◽  
Constantinus Politis

Trigeminal sensory neuropathy can be caused by a variety of conditions, including local, traumatic, iatrogenic, or systemic causes. Diagnosis and management remain a challenge for maxillofacial surgeons and neurologists. Therefore, a good clinical examination and objective tests and imaging are needed when diagnosing patients who present with facial numbness. We present a case with spontaneous episodes of facial paresthesia. He was diagnosed with hereditary neuropathy with liability to pressure palsies (HNPP), a rare condition that affects the peripheral nerves. Only a few case reports that describe involvement of the cranial nerves in patients with HNPP were found in the literature, and facial paresthesia has not been previously reported.


PM&R ◽  
2014 ◽  
Vol 6 (9) ◽  
pp. S264-S265
Author(s):  
Rebecca A. Dutton ◽  
Emily Kraus ◽  
Michael Fredericson

2019 ◽  
Vol 2 ◽  
pp. 5
Author(s):  
Kevin Kapcio ◽  
Kamila Skalski ◽  
Vikram Dogra

Birt-Hogg-Dubé (BHD) syndrome is a rare hereditary disorder associated with autosomal dominant hereditary epithelial carcinomas, in which patients have an increased incidence of renal cell carcinomas, scattered hamartomas, pulmonary cysts, and spontaneous pneumothoraces. Other less common findings include lipomas, parathyroid adenomas, salivary gland tumors, and colonic polyps/tumors. Early diagnosis of BHD can help establish renal screening and reduce mortality by early detection and more effective treatment of renal cell carcinoma. This case report describes the sonographic features of salivary gland oncocytomas found in a patient with BHD.


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