Hereditary Neuropathy with Liability to Pressure Palsy Presenting with Hand Drop in a Young Child
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-...
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| Format: | Article |
| Language: | English |
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Wiley
2012-01-01
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| Series: | Case Reports in Pediatrics |
| Online Access: | http://dx.doi.org/10.1155/2012/382657 |
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| author | Inês Sobreira Cátia Sousa Ana Raposo M. Rita Soares Ana Soudo Ana Isabel Dias |
| author_facet | Inês Sobreira Cátia Sousa Ana Raposo M. Rita Soares Ana Soudo Ana Isabel Dias |
| author_sort | Inês Sobreira |
| collection | DOAJ |
| description | 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. |
| format | Article |
| id | doaj-art-78963150a3c74e72abbafcd8af516e82 |
| institution | Kabale University |
| issn | 2090-6803 2090-6811 |
| language | English |
| publishDate | 2012-01-01 |
| publisher | Wiley |
| record_format | Article |
| series | Case Reports in Pediatrics |
| spelling | doaj-art-78963150a3c74e72abbafcd8af516e822025-02-03T05:45:06ZengWileyCase Reports in Pediatrics2090-68032090-68112012-01-01201210.1155/2012/382657382657Hereditary Neuropathy with Liability to Pressure Palsy Presenting with Hand Drop in a Young ChildInês Sobreira0Cátia Sousa1Ana Raposo2M. Rita Soares3Ana Soudo4Ana Isabel Dias5Department of Paediatrics, Hospital of Divino Espírito Santo, Ponta Delgada EPE, 9500-370 Ponta Delgada, Azores, PortugalDepartment of Paediatrics, Hospital of Divino Espírito Santo, Ponta Delgada EPE, 9500-370 Ponta Delgada, Azores, PortugalDepartment of Paediatrics, Hospital of Divino Espírito Santo, Ponta Delgada EPE, 9500-370 Ponta Delgada, Azores, PortugalDepartment of Paediatrics, Hospital of Divino Espírito Santo, Ponta Delgada EPE, 9500-370 Ponta Delgada, Azores, PortugalPhysical Medicine and Rehabilitation, Hospital D. Estefânia, Central Lisbon Hospital Center, 1169-045 Lisbon, PortugalDepartment of Neuropediatrics, Hospital D. Estefânia, Central Lisbon Hospital Center, 1169-045 Lisbon, PortugalHereditary 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.http://dx.doi.org/10.1155/2012/382657 |
| spellingShingle | Inês Sobreira Cátia Sousa Ana Raposo M. Rita Soares Ana Soudo Ana Isabel Dias Hereditary Neuropathy with Liability to Pressure Palsy Presenting with Hand Drop in a Young Child Case Reports in Pediatrics |
| title | Hereditary Neuropathy with Liability to Pressure Palsy Presenting with Hand Drop in a Young Child |
| title_full | Hereditary Neuropathy with Liability to Pressure Palsy Presenting with Hand Drop in a Young Child |
| title_fullStr | Hereditary Neuropathy with Liability to Pressure Palsy Presenting with Hand Drop in a Young Child |
| title_full_unstemmed | Hereditary Neuropathy with Liability to Pressure Palsy Presenting with Hand Drop in a Young Child |
| title_short | Hereditary Neuropathy with Liability to Pressure Palsy Presenting with Hand Drop in a Young Child |
| title_sort | hereditary neuropathy with liability to pressure palsy presenting with hand drop in a young child |
| url | http://dx.doi.org/10.1155/2012/382657 |
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