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