scholarly journals Clinical and neurophysiological features of the hereditary neuropathy with liability to pressure palsy due to the 17p11.2 deletion

2016 ◽  
Vol 74 (2) ◽  
pp. 99-105 ◽  
Author(s):  
Aline Pinheiro Martins de Oliveira ◽  
Raquel Campos Pereira ◽  
Patrícia Toscano Onofre ◽  
Vanessa Daccach Marques ◽  
Gilberto Brown de Andrade ◽  
...  
Keyword(s):  
Nerve Conduction Studies ◽  
Frequent Pattern ◽  
Hereditary Neuropathy ◽  
Brachial Plexopathy ◽  
Motor Neuropathy ◽  
Sensorimotor Polyneuropathy ◽  
Pressure Palsy ◽  
Pressure Palsies ◽  
Sensory Polyneuropathy ◽  
17P11.2 Deletion

ABSTRACT The hereditary neuropathy with liability to pressure palsies (HNPP) is an autossomal dominant disorder manifesting recurrent mononeuropathies. Objective Evaluate its clinical and nerve conduction studies (NCS) characteristics, searching for diagnostic particularities. Method We reviewed the neurological manifestations of 39 and the NCS of 33 patients. Results Family history was absent in 16/39 (41%). The onset complaints were weakness in 24, pain in 6, sensory deficit in 5 and paresthesias in 4. Pain was seen in 3 other patients. The following neuropathy patterns were found: multiple mononeuropathy (26), mononeuropathy (7), chronic sensorimotor polyneuropathy (4), chronic sensory polyneuropathy (1) and unilateral brachial plexopathy (1). NCS showed a sensorimotor neuropathy with focal conduction slowing in 31, two had mononeuropathy and another brachial plexopathy. Conclusion HNPP presentation is variable and may include pain. The most frequent pattern is of an asymmetrical sensory and motor neuropathy with focal slowing at specific topographies on NCS.

scholarly journals Muscle training-induced bilateral brachial plexopathy in an adolescent with sporadic hereditary neuropathy with liability to pressure palsies

2017 ◽  
Vol 7 (9) ◽  
pp. e00783 ◽  
Author(s):  
Minori Kodaira ◽  
Satoshi Kodama ◽  
Yui Kamijo ◽  
Tomoki Kaneko ◽  
Yoshiki Sekijima
Keyword(s):  
Hereditary Neuropathy ◽  
Brachial Plexopathy ◽  
Muscle Training ◽  
Pressure Palsies

scholarly journals Muscle training-induced bilateral brachial plexopathy in an adolescent with sporadic hereditary neuropathy with liability to pressure palsies

2019 ◽  
Vol 9 (2) ◽  
pp. e01231
Author(s):  
Minori Kodaira ◽  
Satoshi Kodama ◽  
Yui Kamijo ◽  
Tomoki Kaneko ◽  
Yoshiki Sekijima
Keyword(s):  
Hereditary Neuropathy ◽  
Brachial Plexopathy ◽  
Muscle Training ◽  
Pressure Palsies

Use of cosH1 probe in hereditary neuropathy with liability to pressure palsies: A reliable genetic test for demonstration of identical size of 17p11.2 deletion in unrelated patients

1996 ◽  
Vol 213 (1) ◽  
pp. 71-73
Author(s):  
Emilia Bellone ◽  
Angelo Schenone ◽  
Gianluigi Mancardi ◽  
Garth A Nicholson ◽  
Michele Abbruzzese ◽  
...  
Keyword(s):  
Genetic Test ◽  
Hereditary Neuropathy ◽  
Pressure Palsies ◽  
17P11.2 Deletion

scholarly journals Hereditary Neuropathy with Liability to Pressure Palsy: A Recurrent and Bilateral Foot Drop Case Report

2013 ◽  
Vol 2013 ◽  
pp. 1-5
Author(s):  
Filipa Flor-de-Lima ◽  
Liliana Macedo ◽  
Ricardo Taipa ◽  
Manuel Melo-Pires ◽  
Maria Lurdes Rodrigues
Keyword(s):  
Histological Examination ◽  
Pediatric Population ◽  
Sensory Nerve ◽  
Foot Drop ◽  
First Episode ◽  
Hereditary Neuropathy ◽  
Minor Trauma ◽  
Motor Rehabilitation ◽  
Sensorimotor Polyneuropathy ◽  
Pressure Palsy

Hereditary neuropathy with liability to pressure palsy is characterized by acute, painless, recurrent mononeuropathies secondary to minor trauma or compression. A 16-year-old boy had the first episode of right foot drop after minor motorcycle accident. Electromyography revealed conduction block and slowing velocity conduction of the right deep peroneal nerve at the fibular head. After motor rehabilitation, he fully recovered. Six months later he had the second episode of foot drop in the opposite site after prolonged squatting position. Electromyography revealed sensorimotor polyneuropathy of left peroneal, sural, posterior tibial, and deep peroneal nerves and also of ulnar, radial, and median nerves of both upper limbs. Histological examination revealed sensory nerve demyelination and focal thickenings of myelin fibers. The diagnosis of hereditary neuropathy with liability to pressure palsy was confirmed by PMP22 deletion of chromosome 17p11.2. He started motor rehabilitation and avoidance of stressing factors with progressive recovery. After one-year followup, he was completely asymptomatic. Recurrent bilateral foot drop history, “sausage-like” swellings of myelin in histological examination, and the results of electromyography led the authors to consider the diagnosis despite negative family history. The authors highlight this rare disease in pediatric population and the importance of high index of clinical suspicion for its diagnosis.

Disorders of single nerves, roots, and plexuses

2016 ◽  
Author(s):  
Kerry R. Mills
Keyword(s):  
Nerve Conduction ◽  
Cervical Radiculopathy ◽  
Multifocal Motor Neuropathy ◽  
Nerve Conduction Studies ◽  
Motor Neuropathy ◽  
Vasculitic Neuropathy ◽  
Brachial Neuritis ◽  
Pressure Palsies ◽  
Lateral Sclerosis

The role of electromyography (EMG) and nerve conduction studies in disorders of single nerve, root, and plexus lesions are discussed. The motor and sensory anatomy underpinning diagnosis is described and a scheme presented showing the key muscles to be examined using EMG to differentiate nerve, plexus, and root lesions. The main causes of mononeuritis multiplex, of either axonal degeneration or demyelinative pathology, are covered, including diabetic neuropathy, vasculitic neuropathy, multifocal motor neuropathy with block, and the Lewis–Sumner syndrome. The confirmatory role of EMG and nerve conduction studies in the investigation of cervical and lumbar radiculopathies is highlighted as is the use of transcranial magnetic stimulation to differentiate cervical radiculopathy with myelopathy from amyotrophic lateral sclerosis. The neurophysiological hallmarks of traumatic cervical plexus lesions, including obstetric causes, inherited and acquired brachial neuritis, hereditary liability to pressure palsies, the cervical rib syndrome, and radiation plexopathy are also covered.

scholarly journals Hereditary Neuropathy with Liability to Pressure Palsy Presenting with Hand Drop in a Young Child

2012 ◽  
Vol 2012 ◽  
pp. 1-3 ◽  
Author(s):  
Inês Sobreira ◽  
Cátia Sousa ◽  
Ana Raposo ◽  
M. Rita Soares ◽  
Ana Soudo ◽  
...  
Keyword(s):  
Young Child ◽  
Male Child ◽  
Hereditary Neuropathy ◽  
Rare Entity ◽  
Genetic Studies ◽  
Left Hand ◽  
Pressure Palsy ◽  
Electrophysiological Studies ◽  
Pressure Palsies

Hereditary neuropathy with liability to pressure palsy (HNPP) results from the deletion of thePMP22gene 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. Electrophysiological studies suggested HNPP and genetic studies confirmed it. With this paper, we pretend to create awareness to this entity as a diagnosis to be considered in a child with painless monoparesis and to emphasize the importance of electrophysiological studies in the diagnosis.

scholarly journals Clinical and neurophysiological findings in patients with hereditary neuropathy with liability to pressure palsy and chromosome 17p11.2 deletion

2021 ◽  
Author(s):  
R.M. Pabón Meneses ◽  
G. Azcona Ganuza ◽  
J. Urriza Mena ◽  
A. Ibiricu Yanguas ◽  
L. Gila Useros ◽  
...  
Keyword(s):  
Hereditary Neuropathy ◽  
Pressure Palsy ◽  
17P11.2 Deletion
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