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Case Reports in Pediatrics
Volume 2012 (2012), Article ID 382657, 3 pages
http://dx.doi.org/10.1155/2012/382657
Case Report

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

1Department of Paediatrics, Hospital of Divino Espírito Santo, Ponta Delgada EPE, 9500-370 Ponta Delgada, Azores, Portugal
2Physical Medicine and Rehabilitation, Hospital D. Estefânia, Central Lisbon Hospital Center, 1169-045 Lisbon, Portugal
3Department of Neuropediatrics, Hospital D. Estefânia, Central Lisbon Hospital Center, 1169-045 Lisbon, Portugal

Received 16 June 2012; Accepted 24 July 2012

Academic Editors: Y.-J. Lee, M. O'Ryan, and M. Pineda

Copyright © 2012 Inês Sobreira et al. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

Abstract

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. 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.