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1.
Neurologia (Engl Ed) ; 37(4): 243-249, 2022 May.
Artigo em Inglês | MEDLINE | ID: mdl-35595399

RESUMO

INTRODUCTION: Hereditary neuropathy with liability to pressure palsy (HNPP) is an autosomal dominant disorder, typically presenting with recurrent episodes of mononeuropathy in nerves susceptible to compression, with similar neurophysiological characteristics. However, other clinical and neurophysiological presentations have been reported. METHODS: We retrospectively analysed the clinical and neurophysiological characteristics of 20 patients with genetically confirmed HNPP. Sixteen patients were studied in our department between 1996 and 2016. RESULTS: In addition to the typical characteristics of HNPP, we found atypical forms including recurrent positional sensory symptoms in 3 patients, chronic sensorimotor polyneuropathy in one, and non-progressive mononeuropathy in one. Onset was early in 2 patients: one at the age of 7 years, with common peroneal nerve injury, and another at birth, with brachial plexus involvement. By frequency, the main pathological findings in the nerve conduction study were: decreased sensory nerve conduction velocity in the sural (84%) and the median and superficial peroneal nerves (94%); decreased motor nerve conduction velocity in the ulnar nerve through the elbow (97%), and increased motor distal latency of the median and deep peroneal nerves (74%). CONCLUSION: Our results confirm the clinical variability of HNPP, with the most frequent nerve conduction study findings being the generalised decrease in sensory nerve conduction velocity, in addition to motor involvement, mainly in locations susceptible to nerve compression. The nerve conduction study can detect typical, atypical, and asymptomatic cases of HNPP.


Assuntos
Artrogripose , Neuropatia Hereditária Motora e Sensorial , Artrogripose/genética , Criança , Deleção Cromossômica , Cromossomos , Neuropatia Hereditária Motora e Sensorial/genética , Humanos , Recém-Nascido , Paralisia/genética , Paralisia/patologia , Estudos Retrospectivos
2.
Rehabilitacion (Madr) ; 53(4): 288-291, 2019.
Artigo em Espanhol | MEDLINE | ID: mdl-31813425

RESUMO

Peripheral facial nerve palsy (PFNP) has a substantial physical, psychological and social impact on patients. Neurophysiological study quantifies the degree of nerve injury and assesses prognosis. We present the case of a woman with a 3-month history of left PFNP after a dental implant, with facial functionality of 85.5% and with a normal neurophysiological study performed according to the standard protocol. By modifying the technique centred on the orbicularis oris in its upper portion, the procedure showed an asymmetry of amplitude and signs of denervation. This allowed us to detect a deficit and differentiate a possible asymmetry or simulation by the patient.


Assuntos
Implantação Dentária/efeitos adversos , Traumatismos do Nervo Facial/etiologia , Paralisia Facial/etiologia , Músculos Faciais/inervação , Feminino , Humanos , Pessoa de Meia-Idade
3.
Neurologia (Engl Ed) ; 2019 Apr 29.
Artigo em Inglês, Espanhol | MEDLINE | ID: mdl-31047731

RESUMO

INTRODUCTION: Hereditary neuropathy with liability to pressure palsy (HNPP) is an autosomal dominant disorder, typically presenting with recurrent episodes of mononeuropathy in nerves susceptible to compression, with similar neurophysiological characteristics. However, other clinical and neurophysiological presentations have been reported. METHODS: We retrospectively analysed the clinical and neurophysiological characteristics of 20 patients with genetically confirmed HNPP. Sixteen patients were studied in our department between 1996 and 2016. RESULTS: In addition to the typical characteristics of HNPP, we found atypical forms including recurrent positional sensory symptoms in 3 patients, chronic sensorimotor polyneuropathy in one, and non-progressive mononeuropathy in one. Onset was early in 2 patients: one at the age of 7 years, with common peroneal nerve injury, and another at birth, with brachial plexus involvement. By frequency, the main pathological findings in the nerve conduction study were: decreased sensory nerve conduction velocity in the sural (84%) and the median and superficial peroneal nerves (94%); decreased motor nerve conduction velocity in the ulnar nerve through the elbow (97%), and increased motor distal latency of the median and deep peroneal nerves (74%). CONCLUSION: Our results confirm the clinical variability of HNPP, with the most frequent nerve conduction study findings being the generalised decrease in sensory nerve conduction velocity, in addition to motor involvement, mainly in locations susceptible to nerve compression. The nerve conduction study can detect typical, atypical, and asymptomatic cases of HNPP.

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