Utilize este identificador para referenciar este registo: http://hdl.handle.net/10400.17/1748
Título: Hereditary Neuropathy with Liability to Pressure Palsy Presenting with Hand Drop in a Young Child
Autor: Sobreira, I
Sousa, C
Raposo, A
Soares, MR
Soudo, AP
Dias, AI
Palavras-chave: Neuropatia Hereditária Motora e Sensorial
Mão
Criança
HDE MFR
HDE NEU PED
Data: 2012
Editora: Hindawi Publishing Corporation
Citação: Case Rep Pediatr.2012:Article ID 382657
Resumo: 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.
Peer review: yes
URI: http://hdl.handle.net/10400.17/1748
Aparece nas colecções:NEU PED - Artigos
MFR - Artigos

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