Hereditary Neuropathy with Liability to Pressure Palsy Presenting with Hand Dro...

• Autor(es): Sobreira, I ; Sousa, C ; Raposo, A ; Soares, MR ; Soudo, AP ; Dias, AI
• Data: 2012
• Identificador Persistente: http://hdl.handle.net/10400.17/1748
• Origem: Repositório do Centro Hospitalar de Lisboa Central, EPE
• Assunto(s): Neuropatia Hereditária Motora e Sensorial; Mão; Criança; HDE MFR; HDE NEU PED
• Tipo de Documento: Artigo
• Idioma: Inglês

Descrição

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.