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CC BY-NC-ND 4.0 · Arq Neuropsiquiatr 2016; 74(02): 99-105
DOI: 10.1590/0004-282X20160010
ARTICLE

Clinical and neurophysiological features of the hereditary neuropathy with liability to pressure palsy due to the 17p11.2 deletion

Aspectos clínicos e neurofisiológicos de pacientes com a neuropatia hereditária com a susceptibilidade à pressão associada à deleção 17p11.2
Aline Pinheiro Martins de Oliveira
Universidade de São Paulo, Faculdade de Medicina de Ribeirão Preto, Departamento de Neurociências e Ciências do Comportamento, Ribeirao Preto SP, Brazil.
,
Raquel Campos Pereira
Universidade de São Paulo, Faculdade de Medicina de Ribeirão Preto, Departamento de Neurociências e Ciências do Comportamento, Ribeirao Preto SP, Brazil.
,
Patrícia Toscano Onofre
Universidade de São Paulo, Faculdade de Medicina de Ribeirão Preto, Departamento de Neurociências e Ciências do Comportamento, Ribeirao Preto SP, Brazil.
,
Vanessa Daccach Marques
Universidade de São Paulo, Faculdade de Medicina de Ribeirão Preto, Departamento de Neurociências e Ciências do Comportamento, Ribeirao Preto SP, Brazil.
,
Gilberto Brown de Andrade
Universidade de São Paulo, Faculdade de Medicina de Ribeirão Preto, Departamento de Neurociências e Ciências do Comportamento, Ribeirao Preto SP, Brazil.
,
Amilton Antunes Barreira
Universidade de São Paulo, Faculdade de Medicina de Ribeirão Preto, Departamento de Neurociências e Ciências do Comportamento, Ribeirao Preto SP, Brazil.
,
Wilson Marques Junior
Universidade de São Paulo, Faculdade de Medicina de Ribeirão Preto, Departamento de Neurociências e Ciências do Comportamento, Ribeirao Preto SP, Brazil.
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ABSTRACT

The hereditary neuropathy with liability to pressure palsies (HNPP) is an autossomal dominant disorder manifesting recurrent mononeuropathies.

Objective Evaluate its clinical and nerve conduction studies (NCS) characteristics, searching for diagnostic particularities.

Method We reviewed the neurological manifestations of 39 and the NCS of 33 patients.

Results Family history was absent in 16/39 (41%). The onset complaints were weakness in 24, pain in 6, sensory deficit in 5 and paresthesias in 4. Pain was seen in 3 other patients. The following neuropathy patterns were found: multiple mononeuropathy (26), mononeuropathy (7), chronic sensorimotor polyneuropathy (4), chronic sensory polyneuropathy (1) and unilateral brachial plexopathy (1). NCS showed a sensorimotor neuropathy with focal conduction slowing in 31, two had mononeuropathy and another brachial plexopathy.

Conclusion HNPP presentation is variable and may include pain. The most frequent pattern is of an asymmetrical sensory and motor neuropathy with focal slowing at specific topographies on NCS.

RESUMO

A neuropatia hereditária com susceptibilidade à pressão (HNPP) é uma doença autossçmica dominante que manifesta mononeuropatias recorrentes.

Objetivo Avaliar as características clínicas e os estudos da condução nervosa (ECN) procurando particularidades diagnósticas.

Método Revisamos as características clínicas de 39 e os ECN de 33 pacientes.

Resultados História familiar ausente em 16/39 (41%). As manifestações iniciais foram: fraqueza em 24, dor em 6, déficit sensitivo em 5 e parestesias em 4. Dor foi referida por outros 3 pacientes. Os seguintes padrões de neuropatia foram observados: mononeuropatia múltipla (26), mononeuropatia (6), polineuropatia sensitivo-motora (4), polineuropatia sensitiva (1) e plexopatia braquial unilateral (1). Os ECN mostraram uma neuropatia sensitivo-motora com redução focal da velocidade de condução em 31, dois tinham mononeuropatia e outro plexopatia braquial.

Conclusão A apresentação da HNPP é variável e pode incluir dor. O padrão mais frequente é o de uma neuropatia sensitivo-motora assimétrica com alentecimentos focais da condução em topografias específicas nos ECN.

hereditary neuropathy with liability to pressure palsies - peripheral neuropathy - nerve conduction study - pain
neuropatia hereditária com susceptibilidade à pressão - neuropatia periférica - estudos da condução nervosa - dor

Support: We wish to thank all staff of the Clinical Neurophysiology Unit and of the Neurogenetic Laboratory for their valuable support.




Publication History

Received: 22 April 2015

Accepted: 01 October 2015

Article published online:
06 September 2023

© 2023. Academia Brasileira de Neurologia. This is an open access article published by Thieme under the terms of the Creative Commons Attribution-NonDerivative-NonCommercial License, permitting copying and reproduction so long as the original work is given appropriate credit. Contents may not be used for commecial purposes, or adapted, remixed, transformed or built upon. (https://creativecommons.org/licenses/by-nc-nd/4.0/)

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