Hereditary neuropathy with liability to pressure palsy (HNPP) in childhood: A case study emphasizing the relevance of detailed electrophysiological examination for suspected HNPP in the first decade

2009 ◽  
Vol 31 (6) ◽  
pp. 445-448 ◽  
Author(s):  
Ayşe Oytun Bayrak ◽  
Esra Battaloglu ◽  
Hande Turker ◽  
Ibrahim Baris ◽  
Gurkan Oztas
Keyword(s):  
Hereditary Neuropathy ◽  
Pressure Palsy ◽  
Electrophysiological Examination

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 Hereditary neuropathy with liability to pressure palsy (HNPP): report of a family with a new point mutation in PMP22 gene

2017 ◽  
Vol 43 (1) ◽  
Author(s):  
Carlo Fusco ◽  
Carlotta Spagnoli ◽  
Grazia Gabriella Salerno ◽  
Elena Pavlidis ◽  
Daniele Frattini ◽  
...  
Keyword(s):  
Point Mutation ◽  
Hereditary Neuropathy ◽  
Pmp22 Gene ◽  
Pressure Palsy

scholarly journals Does Hereditary Neuropathy with Liability to Pressure Palsy Predispose to Schwannomatosis?

2014 ◽  
Vol 10 (4) ◽  
pp. 371 ◽  
Author(s):  
Aude-Marie Grapperon ◽  
Jérôme Franques ◽  
Pierre-Hugues Roche ◽  
Fabrice Battaglia
Keyword(s):  
Hereditary Neuropathy ◽  
Pressure Palsy

Clinical, electrophysiological, and molecular findings in early onset hereditary neuropathy with liability to pressure palsy

2014 ◽  
Vol 50 (6) ◽  
pp. 914-918 ◽  
Author(s):  
Anna Potulska-Chromik ◽  
Elena Sinkiewicz-Darol ◽  
Barbara Ryniewicz ◽  
Marta Lipowska ◽  
Dagmara Kabzińska ◽  
...  
Keyword(s):  
Early Onset ◽  
Hereditary Neuropathy ◽  
Pressure Palsy

Hereditary neuropathy with liability to pressure palsy combined with suspected schwannomas of the peroneal and radial nerves

2011 ◽  
Vol 259 (5) ◽  
pp. 977-979 ◽  
Author(s):  
Masaki Ohyagi ◽  
Nobuo Sanjo ◽  
Takanori Yokota ◽  
Hidehiro Mizusawa
Keyword(s):  
Hereditary Neuropathy ◽  
Pressure Palsy

Pain as a Presentation of Hereditary Neuropathy with Liability to Pressure Palsy (P03.211)

Neurology ◽  
2012 ◽  
Vol 78 (Meeting Abstracts 1) ◽  
pp. P03.211-P03.211
Author(s):  
M. Weiss ◽  
D. Thyerlei
Keyword(s):  
Hereditary Neuropathy ◽  
Pressure Palsy

Pain in hereditary neuropathy with liability to pressure palsy: An association with fibromyalgia syndrome?

2015 ◽  
Vol 51 (3) ◽  
pp. 385-390 ◽  
Author(s):  
Ugur Yilmaz ◽  
Thomas T. Bird ◽  
Gregory T. Carter ◽  
Leo H. Wang ◽  
Michael D. Weiss
Keyword(s):  
Fibromyalgia Syndrome ◽  
Hereditary Neuropathy ◽  
Pressure Palsy
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