Document Detail

Hereditary neuropathy with liability to pressure palsy presenting with hand drop in a young child.
MedLine Citation:
PMID:  22953141     Owner:  NLM     Status:  PubMed-not-MEDLINE    
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.
Inês Sobreira; Cátia Sousa; Ana Raposo; M Rita Soares; Ana Soudo; Ana Isabel Dias
Publication Detail:
Type:  Journal Article     Date:  2012-08-16
Journal Detail:
Title:  Case reports in pediatrics     Volume:  2012     ISSN:  2090-6811     ISO Abbreviation:  Case Rep Pediatr     Publication Date:  2012  
Date Detail:
Created Date:  2012-09-06     Completed Date:  2012-09-06     Revised Date:  2012-09-28    
Medline Journal Info:
Nlm Unique ID:  101581030     Medline TA:  Case Rep Pediatr     Country:  United States    
Other Details:
Languages:  eng     Pagination:  382657     Citation Subset:  -    
Department of Paediatrics, Hospital of Divino Espírito Santo, Ponta Delgada EPE, 9500-370 Ponta Delgada, Azores, Portugal.
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