{"title":"儿童米勒-费舍尔综合征:临床特征和诊断挑战","authors":"AI Martins, Vasconcelos, Palavra","doi":"10.46531/SINAPSE/2020/CC/190008/2020","DOIUrl":null,"url":null,"abstract":"Miller-Fisher syndrome is an acute demyelinating polyneuropathy and classically presents with ophthalmoplegia, hyporeflexia, and ataxia. Although being one of the rare variants of Guillain-Barré syndrome, there are several clinical, laboratory and imaging peculiarities of Miller-Fisher syndrome inherent to patient’s age group. We present a three-year old patient, which presented with a three days-history of gait imbalance and ocular movements impairment. Neurological examination revealed complete ophthalmoplegia, appendicular and axial ataxia and hyporeflexia. Cerebrospinal fluid study revealed albuminocytologic dissociation while nerve conduction tests, brain magnetic resonance imaging and anti-ganglioside antibodies screening were unrevealing. The patient was diagnosed with Miller-Fisher syndrome and started intravenous human immunoglobulin (2 g/kg), for 5 days. Three months after the diagnosis, the patient was fully recovered and the neurological examination was unremarkable. It is crucial to recognize pediatric Miller-Fisher syndrome particularities, surpass the difficulties in performing an accurate neurological exam in young patients and recognize the multiple entities to consider n the differential diagnosis of pediatric Miller-Fisher syndrome, in order to perform a correct diagnosis and establish an appropriate therapeutic strategy. Informações/Informations: Caso Clínico, publicado em Sinapse, Volume 20, Número 1, janeiro-março 2020. Versão eletrónica em www.sinapse.pt Case Report, published in Sinapse, Volume 20, Number 1, january-march 2020. Electronic version in www.sinapse.pt © Autor (es) (ou seu (s) empregador (es)) 2020. Reutilização permitida de acordo com CC BY-NC. Nenhuma reutilização comercial. © Author(s) (or their employer(s)) 2020. Re-use permitted under CC BY-NC. No commercial re-use. Palavras-chave: Criança; Gangliosídeos; Imunoglobulinas Intravenosas; Síndrome de Miller-Fisher/ diagnóstico; Síndrome de Miller-Fisher/ tratamento.","PeriodicalId":53695,"journal":{"name":"Sinapse","volume":null,"pages":null},"PeriodicalIF":0.0000,"publicationDate":"2020-06-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Pediatric Miller-Fisher Syndrome: clinical features and diagnostic challenges\",\"authors\":\"AI Martins, Vasconcelos, Palavra\",\"doi\":\"10.46531/SINAPSE/2020/CC/190008/2020\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"Miller-Fisher syndrome is an acute demyelinating polyneuropathy and classically presents with ophthalmoplegia, hyporeflexia, and ataxia. Although being one of the rare variants of Guillain-Barré syndrome, there are several clinical, laboratory and imaging peculiarities of Miller-Fisher syndrome inherent to patient’s age group. We present a three-year old patient, which presented with a three days-history of gait imbalance and ocular movements impairment. Neurological examination revealed complete ophthalmoplegia, appendicular and axial ataxia and hyporeflexia. Cerebrospinal fluid study revealed albuminocytologic dissociation while nerve conduction tests, brain magnetic resonance imaging and anti-ganglioside antibodies screening were unrevealing. The patient was diagnosed with Miller-Fisher syndrome and started intravenous human immunoglobulin (2 g/kg), for 5 days. Three months after the diagnosis, the patient was fully recovered and the neurological examination was unremarkable. It is crucial to recognize pediatric Miller-Fisher syndrome particularities, surpass the difficulties in performing an accurate neurological exam in young patients and recognize the multiple entities to consider n the differential diagnosis of pediatric Miller-Fisher syndrome, in order to perform a correct diagnosis and establish an appropriate therapeutic strategy. Informações/Informations: Caso Clínico, publicado em Sinapse, Volume 20, Número 1, janeiro-março 2020. Versão eletrónica em www.sinapse.pt Case Report, published in Sinapse, Volume 20, Number 1, january-march 2020. Electronic version in www.sinapse.pt © Autor (es) (ou seu (s) empregador (es)) 2020. Reutilização permitida de acordo com CC BY-NC. Nenhuma reutilização comercial. © Author(s) (or their employer(s)) 2020. Re-use permitted under CC BY-NC. No commercial re-use. Palavras-chave: Criança; Gangliosídeos; Imunoglobulinas Intravenosas; Síndrome de Miller-Fisher/ diagnóstico; Síndrome de Miller-Fisher/ tratamento.\",\"PeriodicalId\":53695,\"journal\":{\"name\":\"Sinapse\",\"volume\":null,\"pages\":null},\"PeriodicalIF\":0.0000,\"publicationDate\":\"2020-06-30\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Sinapse\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.46531/SINAPSE/2020/CC/190008/2020\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q4\",\"JCRName\":\"Medicine\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Sinapse","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.46531/SINAPSE/2020/CC/190008/2020","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q4","JCRName":"Medicine","Score":null,"Total":0}
引用次数: 0
Pediatric Miller-Fisher Syndrome: clinical features and diagnostic challenges
Miller-Fisher syndrome is an acute demyelinating polyneuropathy and classically presents with ophthalmoplegia, hyporeflexia, and ataxia. Although being one of the rare variants of Guillain-Barré syndrome, there are several clinical, laboratory and imaging peculiarities of Miller-Fisher syndrome inherent to patient’s age group. We present a three-year old patient, which presented with a three days-history of gait imbalance and ocular movements impairment. Neurological examination revealed complete ophthalmoplegia, appendicular and axial ataxia and hyporeflexia. Cerebrospinal fluid study revealed albuminocytologic dissociation while nerve conduction tests, brain magnetic resonance imaging and anti-ganglioside antibodies screening were unrevealing. The patient was diagnosed with Miller-Fisher syndrome and started intravenous human immunoglobulin (2 g/kg), for 5 days. Three months after the diagnosis, the patient was fully recovered and the neurological examination was unremarkable. It is crucial to recognize pediatric Miller-Fisher syndrome particularities, surpass the difficulties in performing an accurate neurological exam in young patients and recognize the multiple entities to consider n the differential diagnosis of pediatric Miller-Fisher syndrome, in order to perform a correct diagnosis and establish an appropriate therapeutic strategy. Informações/Informations: Caso Clínico, publicado em Sinapse, Volume 20, Número 1, janeiro-março 2020. Versão eletrónica em www.sinapse.pt Case Report, published in Sinapse, Volume 20, Number 1, january-march 2020. Electronic version in www.sinapse.pt © Autor (es) (ou seu (s) empregador (es)) 2020. Reutilização permitida de acordo com CC BY-NC. Nenhuma reutilização comercial. © Author(s) (or their employer(s)) 2020. Re-use permitted under CC BY-NC. No commercial re-use. Palavras-chave: Criança; Gangliosídeos; Imunoglobulinas Intravenosas; Síndrome de Miller-Fisher/ diagnóstico; Síndrome de Miller-Fisher/ tratamento.