Pub Date : 2023-01-01DOI: 10.5327/1516-3180.141s1.594
Ana Flavia Andrade Lemos, M. C. Foloni, Rebeca Aranha Barbosa Sousa, Yasmim Nadime José Frigo, T. Alvarenga, Patrick Emanuell Mesquita Sousa Santos, Gilberto Bento Magioni Junior, Ana Beatriz Baston, Helio Aquaroni Farão Gomes, L. C. Lopes, N. Nakao
Case report: Woman, 34 years old, with paresis that started four years ago during pregnancy, predominantly distal in the lower limbs and progression to the upper limbs. No involvement of cranial nerves and sensitivity. Initially considered a diagnosis of Myasthenia Gravis and clinical gain was observed with the use of pyridostigmine. After a few months, the patient’s symptoms recurred with asymmetric flaccid tetraparesis, predominantly in the lower limbs, associated with global areflexia and oral immunosuppressive therapy was initiated, with improvement. Electroneuromyography with normal sensory nerve conduction studies, but reductions in amplitudes in proximal compound muscle action potentials, with markedly reduced persistence in F-wave studies of the four limbs. Diffuse neurogenic changes were observed on exertion and activities such as positive sharp waves, fibrillation, fasciculations and myokymia at rest. Repetitive nerve stimulation at 3Hz without changes. A hypothesis of multifocal motor neuropathy (MMN) was then made. Treatment with intravenous immunoglobulin was performed, with significant recovery of symptoms. Discussion: MMN is a rare disease (prevalence of 0.6 per 100,000 individuals), with a predominance in men and a mean age of onset around 40 years. The differential diagnosis includes motor neuron disease and other demyelinating neuropathies. It is immune-mediated by antianglioside antibodies (anti-GM1), but they are not identified in all patients and may be present in other neuropathies. It is defined by muscle weakness predominantly distal, asymmetrical, predominantly in the upper limbs, slowly progressive, associated with reduced deep reflexes in the affected regions. The main electrophysiological characteristic is the presence of motor nerve conduction blocks (CB) outside the usual sites of compression. Conclusion: The finding that CB presents in patients with MMN suggests that nerve conduction should be extensively studied in every patient with a lowermotor-neuron syndrome to identify patients who might respond favorably to immunomodulating treatment.
{"title":"Multifocal motor neuropathy atypical presentation: case report","authors":"Ana Flavia Andrade Lemos, M. C. Foloni, Rebeca Aranha Barbosa Sousa, Yasmim Nadime José Frigo, T. Alvarenga, Patrick Emanuell Mesquita Sousa Santos, Gilberto Bento Magioni Junior, Ana Beatriz Baston, Helio Aquaroni Farão Gomes, L. C. Lopes, N. Nakao","doi":"10.5327/1516-3180.141s1.594","DOIUrl":"https://doi.org/10.5327/1516-3180.141s1.594","url":null,"abstract":"Case report: Woman, 34 years old, with paresis that started four years ago during pregnancy, predominantly distal in the lower limbs and progression to the upper limbs. No involvement of cranial nerves and sensitivity. Initially considered a diagnosis of Myasthenia Gravis and clinical gain was observed with the use of pyridostigmine. After a few months, the patient’s symptoms recurred with asymmetric flaccid tetraparesis, predominantly in the lower limbs, associated with global areflexia and oral immunosuppressive therapy was initiated, with improvement. Electroneuromyography with normal sensory nerve conduction studies, but reductions in amplitudes in proximal compound muscle action potentials, with markedly reduced persistence in F-wave studies of the four limbs. Diffuse neurogenic changes were observed on exertion and activities such as positive sharp waves, fibrillation, fasciculations and myokymia at rest. Repetitive nerve stimulation at 3Hz without changes. A hypothesis of multifocal motor neuropathy (MMN) was then made. Treatment with intravenous immunoglobulin was performed, with significant recovery of symptoms. Discussion: MMN is a rare disease (prevalence of 0.6 per 100,000 individuals), with a predominance in men and a mean age of onset around 40 years. The differential diagnosis includes motor neuron disease and other demyelinating neuropathies. It is immune-mediated by antianglioside antibodies (anti-GM1), but they are not identified in all patients and may be present in other neuropathies. It is defined by muscle weakness predominantly distal, asymmetrical, predominantly in the upper limbs, slowly progressive, associated with reduced deep reflexes in the affected regions. The main electrophysiological characteristic is the presence of motor nerve conduction blocks (CB) outside the usual sites of compression. Conclusion: The finding that CB presents in patients with MMN suggests that nerve conduction should be extensively studied in every patient with a lowermotor-neuron syndrome to identify patients who might respond favorably to immunomodulating treatment.","PeriodicalId":49574,"journal":{"name":"Sao Paulo Medical Journal","volume":null,"pages":null},"PeriodicalIF":1.4,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"70954551","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2023-01-01DOI: 10.5327/1516-3180.141s1.621
A. Novais, Beatriz Santos Rogério, R. Branco
Introduction: Renal factors are known as important, and a controllable factor, to define prognosis,mortality and hospitalization time in most of diseases. It still lacks studies that clarify in a specific way the role of this factors. Objectives: This study aims to elucidate the impact of renal factor in outcomes of stroke patients (hospitalization time, CTI time, delirium, infection and death during internment). Methods: We performed a transversal study, part of a cohort. Data of previous renal insufficiency,admission,highest and last creatinine and urea and the highest creatinine clearance during hospitalization. We performed univariate analysis, with T test, Mann-Whitney or chi-square tests;after, multivariate analysis with logistic regression (considering P < 0.05). Results: We obtained 190 patients. Admission creatinine was significant to death (P = 0.05), delirium (P = 0.07) and infection (P = 0.06); highest creatinine to hospitalization time, delirium, infection (P < 0.001) and death (P = 0.008);and last creatinine to death (P < 0.001), delirium (P = 0.003), infection (P = 0.01) and CTI time (P = 0.1). Previous renal insufficiency showed significance to death (P = 0.03), delirium and infection (P < 0.001). ). Highest urea showed significance to all outcomes (P < 0.001), including CTI time (P = 0.004); admission urea to death (P = 0.01); and last urea to death (P < 0.001), hospitalization time (P = 0.1) and delirium (P = 0.06). Clearance only did not show significance to CTI time.Multivariate analysis to each outcome obtained: last creatinine to death (P = 0.03); highest creatinine to hospitalization time (P = 0.02); admission (P = 0.01), highest (P = 0.01) creatinine, admission urea (P = 0.03) and clearance (P = 0.01) to delirium; renal insufficiency (P = 0.009), admission (P = 0.007), highest (P = 0.002) and last (P = 0.02) creatinine, highest urea (P = 0.005) and clearance (P = 0.003). None was significant to CTI time. Conclusion: All parameters of renal function showed to be important measures of prognosis in stroke patients; thus, it is a factor we need to be aware of during hospitalization time.
{"title":"Renal predictors of mortality in stroke patients: partial results of a transversal study","authors":"A. Novais, Beatriz Santos Rogério, R. Branco","doi":"10.5327/1516-3180.141s1.621","DOIUrl":"https://doi.org/10.5327/1516-3180.141s1.621","url":null,"abstract":"Introduction: Renal factors are known as important, and a controllable factor, to define prognosis,mortality and hospitalization time in most of diseases. It still lacks studies that clarify in a specific way the role of this factors. Objectives: This study aims to elucidate the impact of renal factor in outcomes of stroke patients (hospitalization time, CTI time, delirium, infection and death during internment). Methods: We performed a transversal study, part of a cohort. Data of previous renal insufficiency,admission,highest and last creatinine and urea and the highest creatinine clearance during hospitalization. We performed univariate analysis, with T test, Mann-Whitney or chi-square tests;after, multivariate analysis with logistic regression (considering P < 0.05). Results: We obtained 190 patients. Admission creatinine was significant to death (P = 0.05), delirium (P = 0.07) and infection (P = 0.06); highest creatinine to hospitalization time, delirium, infection (P < 0.001) and death (P = 0.008);and last creatinine to death (P < 0.001), delirium (P = 0.003), infection (P = 0.01) and CTI time (P = 0.1). Previous renal insufficiency showed significance to death (P = 0.03), delirium and infection (P < 0.001). ). Highest urea showed significance to all outcomes (P < 0.001), including CTI time (P = 0.004); admission urea to death (P = 0.01); and last urea to death (P < 0.001), hospitalization time (P = 0.1) and delirium (P = 0.06). Clearance only did not show significance to CTI time.Multivariate analysis to each outcome obtained: last creatinine to death (P = 0.03); highest creatinine to hospitalization time (P = 0.02); admission (P = 0.01), highest (P = 0.01) creatinine, admission urea (P = 0.03) and clearance (P = 0.01) to delirium; renal insufficiency (P = 0.009), admission (P = 0.007), highest (P = 0.002) and last (P = 0.02) creatinine, highest urea (P = 0.005) and clearance (P = 0.003). None was significant to CTI time. Conclusion: All parameters of renal function showed to be important measures of prognosis in stroke patients; thus, it is a factor we need to be aware of during hospitalization time.","PeriodicalId":49574,"journal":{"name":"Sao Paulo Medical Journal","volume":null,"pages":null},"PeriodicalIF":1.4,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"70954981","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2023-01-01DOI: 10.5327/1516-3180.141s1.640
Laís Ciribelli Yamaguchi, Jéssica Cristina Silveira Damasceno, Bruna Queiróz Vieira, Laura Altomare Fonseca Campos, Marcelo Sobrinho Mendonça, T. Vale
Introduction: Chronic inflammatory demyelinating polyradiculoneuropathy (CIDP) is an autoimmune disease with many possible etiologies. There are only a few reports of CIDP secondary to the use of immune checkpoint inhibitor therapy. The aim is to describe a case of CIDP secondary to the treatment of metastatic melanoma with immune checkpoint inhibitors (ipilimumab and nivolumab). Case report: A 52-year-old male patient, with arterial hypertension and hypothyroidism, presented with paresthesia and pain in the hands and forearms in November/22, that progressively spread and affected the feet in a one-month period. He then presented proximal and distal tetraparesis in January/23, leading him to depend on a wheelchair. At the time, he was being treated with immunotherapy for metastases in the pectoral muscles due to a melanoma. Symptoms’ onset and progression coincided with the therapy infusions. On examination, there were a grade 4 strength in flexion, extension, abduction and adduction of the thighs and grade 5 in other movements, with global areflexia and tactile hypoesthesia in the feet. Cerebrospinal fluid examination (CSF) showed 11 cells, predominantly with lymphocytes, and 283 mg/dL of proteins. Electromyographic studies revealed focal demyelinating neuropathy of the medians at the wrist level, with moderate to severe intensity on the right and moderate on the left, suggestive of pure motor-variant CIDP. Methylprednisolone 1g/day was given for five days with significant improvement of the condition. Results: The 2021 EFNS/PSN criteria provide diagnostic guidelines for CIDP based on clinical, electromyographic and CSF studies. Conclusion: CIDP secondary to the use of immune checkpoint inhibitors has distinct characteristics such as lymphocytic pleocytosis with slightly increased CSF cellularity and severe neuropathic pain as an initial symptom.
{"title":"Pure motor-variant CIDP associated with immune checkpoint inhibitor therapy","authors":"Laís Ciribelli Yamaguchi, Jéssica Cristina Silveira Damasceno, Bruna Queiróz Vieira, Laura Altomare Fonseca Campos, Marcelo Sobrinho Mendonça, T. Vale","doi":"10.5327/1516-3180.141s1.640","DOIUrl":"https://doi.org/10.5327/1516-3180.141s1.640","url":null,"abstract":"Introduction: Chronic inflammatory demyelinating polyradiculoneuropathy (CIDP) is an autoimmune disease with many possible etiologies. There are only a few reports of CIDP secondary to the use of immune checkpoint inhibitor therapy. The aim is to describe a case of CIDP secondary to the treatment of metastatic melanoma with immune checkpoint inhibitors (ipilimumab and nivolumab). Case report: A 52-year-old male patient, with arterial hypertension and hypothyroidism, presented with paresthesia and pain in the hands and forearms in November/22, that progressively spread and affected the feet in a one-month period. He then presented proximal and distal tetraparesis in January/23, leading him to depend on a wheelchair. At the time, he was being treated with immunotherapy for metastases in the pectoral muscles due to a melanoma. Symptoms’ onset and progression coincided with the therapy infusions. On examination, there were a grade 4 strength in flexion, extension, abduction and adduction of the thighs and grade 5 in other movements, with global areflexia and tactile hypoesthesia in the feet. Cerebrospinal fluid examination (CSF) showed 11 cells, predominantly with lymphocytes, and 283 mg/dL of proteins. Electromyographic studies revealed focal demyelinating neuropathy of the medians at the wrist level, with moderate to severe intensity on the right and moderate on the left, suggestive of pure motor-variant CIDP. Methylprednisolone 1g/day was given for five days with significant improvement of the condition. Results: The 2021 EFNS/PSN criteria provide diagnostic guidelines for CIDP based on clinical, electromyographic and CSF studies. Conclusion: CIDP secondary to the use of immune checkpoint inhibitors has distinct characteristics such as lymphocytic pleocytosis with slightly increased CSF cellularity and severe neuropathic pain as an initial symptom.","PeriodicalId":49574,"journal":{"name":"Sao Paulo Medical Journal","volume":null,"pages":null},"PeriodicalIF":1.4,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"70955329","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2023-01-01DOI: 10.5327/1516-3180.141s1.669
Ana Marina Dutra Ferreira da Silva, Igor Dias Brockhausen, Alessandra Lima Nogueira Tolentino, Ana Laura Moura, A. A. Carvalho
Introduction: Variations in the POLG gene are the most common causes of mitochondrial disease of autosomal inheritance, and may be present in about 2% of the population. Case report: Case 1. CMAM, male, 48-year-old, complaining of bilateral eyelid ptosis with onset in adolescence. Since the age of six, he has been diagnosed with epilepsy. After five years of follow-up, he developed sensory ataxia. After 10 years he began to present dysarthria, dysphagia, tremor and pyramidal syndrome. Case 2. ASB, female, 42 years old, at 20 years old presented generalized clonic tonic crisis during the second and third trimesters of pregnancy; at 35 years of age she complained of tingling in plants and legs; at 37 years she noticed bilateral eyelid ptosis and at 39 years she noticed the presence of slurred speech and fatigue on small efforts. He has 3 siblings with similar symptoms and great difficulty walking. No history of consanguinity. Propedeutics: Normal serum lactate and CPK dosage; muscle biopsy showed variation in the caliber of muscle fibers, with the presence of “ragged red fibers” in Gomori’s Trichrome stain. Cranial magnetic resonance imaging: mild cerebellar atrophy in patient 1 and normal in patient 2. Electroneuromyography reveled absence of sensory action potentials in all nerves studied in both cases. New generation sequencing myopathy panel revealed pathogenic variant in homozygosis in the POLG c.1399G>A gene (p.Ala467Thr). Results: The patients received the diagnosis of mitochondrial disease, presenting complex clinical phenotype. Conclusion: DNA polymerase gamma is the enzyme responsible for replicating and maintaining mitochondrial DNA, encoded by nuclear DNA. The c.1399G>A variant in exon7 causes a replacement of an alanine with threonine (A467T), and is one of the causes of ataxia, such as spinocerebellar ataxia with epilepsy; autosomal recessive mitochondrial ataxia, sensory neuropathy, dysarthria and ophthalmoparesis and myoclonic epilepsy, myopathy and sensory ataxia. However, most of the time, they present a continuum between the phenotypes described.
{"title":"A467T variant of the polg gene: description of two clinical cases","authors":"Ana Marina Dutra Ferreira da Silva, Igor Dias Brockhausen, Alessandra Lima Nogueira Tolentino, Ana Laura Moura, A. A. Carvalho","doi":"10.5327/1516-3180.141s1.669","DOIUrl":"https://doi.org/10.5327/1516-3180.141s1.669","url":null,"abstract":"Introduction: Variations in the POLG gene are the most common causes of mitochondrial disease of autosomal inheritance, and may be present in about 2% of the population. Case report: Case 1. CMAM, male, 48-year-old, complaining of bilateral eyelid ptosis with onset in adolescence. Since the age of six, he has been diagnosed with epilepsy. After five years of follow-up, he developed sensory ataxia. After 10 years he began to present dysarthria, dysphagia, tremor and pyramidal syndrome. Case 2. ASB, female, 42 years old, at 20 years old presented generalized clonic tonic crisis during the second and third trimesters of pregnancy; at 35 years of age she complained of tingling in plants and legs; at 37 years she noticed bilateral eyelid ptosis and at 39 years she noticed the presence of slurred speech and fatigue on small efforts. He has 3 siblings with similar symptoms and great difficulty walking. No history of consanguinity. Propedeutics: Normal serum lactate and CPK dosage; muscle biopsy showed variation in the caliber of muscle fibers, with the presence of “ragged red fibers” in Gomori’s Trichrome stain. Cranial magnetic resonance imaging: mild cerebellar atrophy in patient 1 and normal in patient 2. Electroneuromyography reveled absence of sensory action potentials in all nerves studied in both cases. New generation sequencing myopathy panel revealed pathogenic variant in homozygosis in the POLG c.1399G>A gene (p.Ala467Thr). Results: The patients received the diagnosis of mitochondrial disease, presenting complex clinical phenotype. Conclusion: DNA polymerase gamma is the enzyme responsible for replicating and maintaining mitochondrial DNA, encoded by nuclear DNA. The c.1399G>A variant in exon7 causes a replacement of an alanine with threonine (A467T), and is one of the causes of ataxia, such as spinocerebellar ataxia with epilepsy; autosomal recessive mitochondrial ataxia, sensory neuropathy, dysarthria and ophthalmoparesis and myoclonic epilepsy, myopathy and sensory ataxia. However, most of the time, they present a continuum between the phenotypes described.","PeriodicalId":49574,"journal":{"name":"Sao Paulo Medical Journal","volume":null,"pages":null},"PeriodicalIF":1.4,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"70956264","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2023-01-01DOI: 10.5327/1516-3180.141s1.679
I. Teixeira, Vanessa Pereira de Alencar Souza, V. Borges, H. Ferraz
Introduction: Many cognitive screening tests have been investigated for the diagnosis of Parkinson’s disease dementia (PDD), due to its prevalence and its interference in the evolution of the disease, quality of life and in the treatment response of the patients with Parkinson’s disease (PD). Therefore, more effective and faster cognitive screening tests are needed. Objectives: To evaluate the usefulness of the NINDS-CSN 5-minutes protocol assessment (NC5MPA) in PD patients as screening test for the detection of PDD, as well as to test if the association with the cube drawing test (CDT) can increase the test accuracy. Methods: A total of 98 patients with PD were evaluated using the NC5MPA, combined with the CDT, Mini Mental State Examination and the Montreal Cognitive Assessment (MoCA). These patients were also evaluated for mild cognitive impairment (MCI) and dementia by the Clinical Dementia Rating Scale (CDR). Results: There was a good correlation (with P value < 0.00) between the test scores and PDD, but the results of the 3 tests for MCI was > 0.05. The NC5MPA test has had sensitivity of 78.5%, specificity of 85.7%, accuracy of 82.6%, positive predictive value of 80.4% and negative predictive value of 84.2%, in addition to demonstrate an average performance time of 3.2 minutes (3.08–3.31). The association with the CDT has led to a little significant increase in sensitivity and has showed a decrease in specificity and accuracy, besides increase the test performance time. In assessing the interference of education level, the results were influenced by the small sample size of the 5 to 8 years of education group. Conclusion: The NC5MPA test has proven up to be a good screening test for PDD, being even faster and easier to perform, but more tests with larger populations are necessary to assess the accuracy of this test for MCI and to assess if there is interference of education level in the test accuracy.
{"title":"Evaluation of the NINDS-CSN 5-minutes protocol as a cognitive screening test to detect Parkinson’s disease dementia: a study of a Brazilian sample","authors":"I. Teixeira, Vanessa Pereira de Alencar Souza, V. Borges, H. Ferraz","doi":"10.5327/1516-3180.141s1.679","DOIUrl":"https://doi.org/10.5327/1516-3180.141s1.679","url":null,"abstract":"Introduction: Many cognitive screening tests have been investigated for the diagnosis of Parkinson’s disease dementia (PDD), due to its prevalence and its interference in the evolution of the disease, quality of life and in the treatment response of the patients with Parkinson’s disease (PD). Therefore, more effective and faster cognitive screening tests are needed. Objectives: To evaluate the usefulness of the NINDS-CSN 5-minutes protocol assessment (NC5MPA) in PD patients as screening test for the detection of PDD, as well as to test if the association with the cube drawing test (CDT) can increase the test accuracy. Methods: A total of 98 patients with PD were evaluated using the NC5MPA, combined with the CDT, Mini Mental State Examination and the Montreal Cognitive Assessment (MoCA). These patients were also evaluated for mild cognitive impairment (MCI) and dementia by the Clinical Dementia Rating Scale (CDR). Results: There was a good correlation (with P value < 0.00) between the test scores and PDD, but the results of the 3 tests for MCI was > 0.05. The NC5MPA test has had sensitivity of 78.5%, specificity of 85.7%, accuracy of 82.6%, positive predictive value of 80.4% and negative predictive value of 84.2%, in addition to demonstrate an average performance time of 3.2 minutes (3.08–3.31). The association with the CDT has led to a little significant increase in sensitivity and has showed a decrease in specificity and accuracy, besides increase the test performance time. In assessing the interference of education level, the results were influenced by the small sample size of the 5 to 8 years of education group. Conclusion: The NC5MPA test has proven up to be a good screening test for PDD, being even faster and easier to perform, but more tests with larger populations are necessary to assess the accuracy of this test for MCI and to assess if there is interference of education level in the test accuracy.","PeriodicalId":49574,"journal":{"name":"Sao Paulo Medical Journal","volume":null,"pages":null},"PeriodicalIF":1.4,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"70956369","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2023-01-01DOI: 10.5327/1516-3180.141s1.675
Lara Teixeira Paiva, Taianne Fiore Schumann, Raquel Vassão Araújo, A. P. Gomes
Introduction: Behçet’s disease is a multisystem disease consisting of oral lesions, genital ulcers and uveitis with unpredictable evolution. Vasculitic and parenchymal involvement of the central nervous system is uncommon. The aim is to describe a case of systemic rheumatologic disease with unusual central involvement in clinical practice. Case report: Woman, 57-year-old, with a previous history of rheumatoid arthritis for 23 years, presented oral and genital ulcers in addition to paresthesia in the right hemiface and subacute change in visual acuity and bilateral ocular pain in 2017. She was diagnosed with Behçet’s Disease with neurological involvement, being submitted to pulse therapy with Cyclophosphamide and maintenance treatment with Azathioprine. She recurred with the same neurological symptoms in 2020, readmitted in the context of severe thrombocytopenia, being diagnosed with idiopathic thrombocytopenic purpura. Pulse therapy with Methylprednisolone was performed, with improvement of symptoms, but thrombocytopenia was maintained. He opted for the maintenance of Immunoglobulin then, with subsequent initiation of Rituximab. Bilateral ocular sequelae persisted with low acuity and hypoesthesia in the path of the trigeminal nerve on the right. Maintains good control of the disease using Rituximab at weaning and maintenance dose of Prednisone. Conclusion: The prognosis of Behçet’s disease is poor when the central nervous system is affected and studies about treatment still have limited evidence. Early identification of the disease is essential to enable rapid and adequate treatment.
{"title":"Neuro Behçet’s disease: report of a rare disease with neurologic presentation","authors":"Lara Teixeira Paiva, Taianne Fiore Schumann, Raquel Vassão Araújo, A. P. Gomes","doi":"10.5327/1516-3180.141s1.675","DOIUrl":"https://doi.org/10.5327/1516-3180.141s1.675","url":null,"abstract":"Introduction: Behçet’s disease is a multisystem disease consisting of oral lesions, genital ulcers and uveitis with unpredictable evolution. Vasculitic and parenchymal involvement of the central nervous system is uncommon. The aim is to describe a case of systemic rheumatologic disease with unusual central involvement in clinical practice. Case report: Woman, 57-year-old, with a previous history of rheumatoid arthritis for 23 years, presented oral and genital ulcers in addition to paresthesia in the right hemiface and subacute change in visual acuity and bilateral ocular pain in 2017. She was diagnosed with Behçet’s Disease with neurological involvement, being submitted to pulse therapy with Cyclophosphamide and maintenance treatment with Azathioprine. She recurred with the same neurological symptoms in 2020, readmitted in the context of severe thrombocytopenia, being diagnosed with idiopathic thrombocytopenic purpura. Pulse therapy with Methylprednisolone was performed, with improvement of symptoms, but thrombocytopenia was maintained. He opted for the maintenance of Immunoglobulin then, with subsequent initiation of Rituximab. Bilateral ocular sequelae persisted with low acuity and hypoesthesia in the path of the trigeminal nerve on the right. Maintains good control of the disease using Rituximab at weaning and maintenance dose of Prednisone. Conclusion: The prognosis of Behçet’s disease is poor when the central nervous system is affected and studies about treatment still have limited evidence. Early identification of the disease is essential to enable rapid and adequate treatment.","PeriodicalId":49574,"journal":{"name":"Sao Paulo Medical Journal","volume":null,"pages":null},"PeriodicalIF":1.4,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"70956414","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2023-01-01DOI: 10.5327/1516-3180.141s1.682
Lara Teixeira Paiva, V. Ribeiro, Kaisy Nagella Alves, P. P. Christo, A. P. Gomes
Endemic in Brazil, sporotrichosis usually presents in its cutaneous form. Meningeal involvement is rare and generally affects immunocompromised hosts. Here we describe a case of meningeal sporotrichosis in an immunocompetent patient without concurrent skin lesions. A 78-year-old woman, previously healthy, developed cognitive deficits with fluctuating mental confusion over the course of three months, until she went to the emergency department with fatigue and stupor. Laboratory workup showed severe hyponatremia due to inappropriate ADH secretion. She was treated with fluid restriction and discharged. Two months later, she was referred to a neurologist because of persistent mental confusion in spite of controlled sodium. She had no headache, fever, seizures, or focal deficits. Cerebrospinal fluid (CSF) analysis revealed chronic meningitis: 232 cells (95% lymphocytes), elevated protein (3.021 mg/dl) and low glucose; cultures and polymerase chain reaction (PCR) for Mycobacterium were negative. Brain magnetic resonance imaging (MRI) revealed basal meningeal enhancement. She was hospitalized and empirically treated for meningeal tuberculosis, with no clinical nor CSF improvement after one month. In a careful history review, we found out that one year earlier she had been exposed to cats who died from sporotrichosis. One month after that, she had had a single skin lesion which spontaneously disappeared, followed by polyarthritis, which also resolved. At the time of our evaluation, she had no cutaneous lesion nor arthritis; CTs of the chest and abdomen were normal. PCR for Sporothrix in the CSF came out positive. She received liposomal amphotericin for 1 month, followed by a 6-months use of itraconazole. She fully recovered her cognitive capacities; follow-up MRI showed no alterations; her late CSF was nearly normal (5 cells, protein 55 mg/dl, no glucose consumption). Our report draws the attention to atypical neurological presentations of sporotrichosis, a treatable condition that may unrecognized.
{"title":"Meningeal sporotrichosis in an immunocompetent host: case report","authors":"Lara Teixeira Paiva, V. Ribeiro, Kaisy Nagella Alves, P. P. Christo, A. P. Gomes","doi":"10.5327/1516-3180.141s1.682","DOIUrl":"https://doi.org/10.5327/1516-3180.141s1.682","url":null,"abstract":"Endemic in Brazil, sporotrichosis usually presents in its cutaneous form. Meningeal involvement is rare and generally affects immunocompromised hosts. Here we describe a case of meningeal sporotrichosis in an immunocompetent patient without concurrent skin lesions. A 78-year-old woman, previously healthy, developed cognitive deficits with fluctuating mental confusion over the course of three months, until she went to the emergency department with fatigue and stupor. Laboratory workup showed severe hyponatremia due to inappropriate ADH secretion. She was treated with fluid restriction and discharged. Two months later, she was referred to a neurologist because of persistent mental confusion in spite of controlled sodium. She had no headache, fever, seizures, or focal deficits. Cerebrospinal fluid (CSF) analysis revealed chronic meningitis: 232 cells (95% lymphocytes), elevated protein (3.021 mg/dl) and low glucose; cultures and polymerase chain reaction (PCR) for Mycobacterium were negative. Brain magnetic resonance imaging (MRI) revealed basal meningeal enhancement. She was hospitalized and empirically treated for meningeal tuberculosis, with no clinical nor CSF improvement after one month. In a careful history review, we found out that one year earlier she had been exposed to cats who died from sporotrichosis. One month after that, she had had a single skin lesion which spontaneously disappeared, followed by polyarthritis, which also resolved. At the time of our evaluation, she had no cutaneous lesion nor arthritis; CTs of the chest and abdomen were normal. PCR for Sporothrix in the CSF came out positive. She received liposomal amphotericin for 1 month, followed by a 6-months use of itraconazole. She fully recovered her cognitive capacities; follow-up MRI showed no alterations; her late CSF was nearly normal (5 cells, protein 55 mg/dl, no glucose consumption). Our report draws the attention to atypical neurological presentations of sporotrichosis, a treatable condition that may unrecognized.","PeriodicalId":49574,"journal":{"name":"Sao Paulo Medical Journal","volume":null,"pages":null},"PeriodicalIF":1.4,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"70956816","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2023-01-01DOI: 10.5327/1516-3180.141s1.700
Ruan Gambardella Rosalina de Azevedo, A. Barbosa, Gabriel Pinheiro Martins de Almeida e Souza, J. Ferrer, M. Lima, P. Fraiman, R. Maffei, V. Faria, Vinicius Lima, André Amorim, M. Aragão
Introduction: New onset of a refractory status epilepticus (NORSE) is a clinical presentation, without a clear cause, within the first 72h of admission of a non-epileptic patient. FIRES (Febrile Infection-Related Epilepsy Syndrome) is a NORSE subgroup with febrile prodrome 24 hours to 2 weeks before the onset of status. This case reports a previously healthy 7-year-old female with FIRES and super refractory status epilepticus (SE). Methods: This is a case report based on retrospective analysis of a single patient’s medical record. Results: The patient presented with SE four days after low grade fever and airway infection. Midazolam (MDZ) 0.15 mg/kg, phenytoin (PFT) 30 mg/ kg, phenobarbital (PB) 15 mg/kg were administered in sequence; followed by continuous infusion of MDZ 1 mg/kg/h and ketamine (KET) 30 mcg/kg/ min. Empirical treatment started with ceftriaxone, acyclovir and ampicillin. Exams on admission: Brain magnetic resonance (MRI) with no abnormalities; normal serum leukocyte count and electrolyte levels; cerebrospinal fluid (CSF) with 61 cells (71% lymphocytes), protein 38, Lactate 15, glucose 61 (mg/dL). CSF on two different occasions was negative for infectious agents and autoimmune antibodies. Electroencephalograms (EEG) on the 3rd, 4th and 7th days after hospitalization revealed SE despite the followings drugs: Levetiracetam 60 mg/kg, Lacosamide 10 mg/kg, topiramate 10 mg/kg, MDZ 2 mg/kg/h, KET 2 mg/kg/h. Throughout hospitalization, she received a 3 days course of methylprednisolone 30 mg/kg/day, followed by five days of immunoglobulin 2 g/ kg/day, ketogenic diet and thiopental 5 mg/kg/h. From the 13th day on, EEG maintained global suppression and no epileptiform activity. The patient died on the 18th day after a septic shock. Conclusion: NORSE and FIRES are entities with unfavorable outcomes and high mortality rates. Autoimmune/inflammatory encephalitis represents 40% of NORSE causes.
{"title":"Super refractory status epilepticus in a child: brain on “fires”","authors":"Ruan Gambardella Rosalina de Azevedo, A. Barbosa, Gabriel Pinheiro Martins de Almeida e Souza, J. Ferrer, M. Lima, P. Fraiman, R. Maffei, V. Faria, Vinicius Lima, André Amorim, M. Aragão","doi":"10.5327/1516-3180.141s1.700","DOIUrl":"https://doi.org/10.5327/1516-3180.141s1.700","url":null,"abstract":"Introduction: New onset of a refractory status epilepticus (NORSE) is a clinical presentation, without a clear cause, within the first 72h of admission of a non-epileptic patient. FIRES (Febrile Infection-Related Epilepsy Syndrome) is a NORSE subgroup with febrile prodrome 24 hours to 2 weeks before the onset of status. This case reports a previously healthy 7-year-old female with FIRES and super refractory status epilepticus (SE). Methods: This is a case report based on retrospective analysis of a single patient’s medical record. Results: The patient presented with SE four days after low grade fever and airway infection. Midazolam (MDZ) 0.15 mg/kg, phenytoin (PFT) 30 mg/ kg, phenobarbital (PB) 15 mg/kg were administered in sequence; followed by continuous infusion of MDZ 1 mg/kg/h and ketamine (KET) 30 mcg/kg/ min. Empirical treatment started with ceftriaxone, acyclovir and ampicillin. Exams on admission: Brain magnetic resonance (MRI) with no abnormalities; normal serum leukocyte count and electrolyte levels; cerebrospinal fluid (CSF) with 61 cells (71% lymphocytes), protein 38, Lactate 15, glucose 61 (mg/dL). CSF on two different occasions was negative for infectious agents and autoimmune antibodies. Electroencephalograms (EEG) on the 3rd, 4th and 7th days after hospitalization revealed SE despite the followings drugs: Levetiracetam 60 mg/kg, Lacosamide 10 mg/kg, topiramate 10 mg/kg, MDZ 2 mg/kg/h, KET 2 mg/kg/h. Throughout hospitalization, she received a 3 days course of methylprednisolone 30 mg/kg/day, followed by five days of immunoglobulin 2 g/ kg/day, ketogenic diet and thiopental 5 mg/kg/h. From the 13th day on, EEG maintained global suppression and no epileptiform activity. The patient died on the 18th day after a septic shock. Conclusion: NORSE and FIRES are entities with unfavorable outcomes and high mortality rates. Autoimmune/inflammatory encephalitis represents 40% of NORSE causes.","PeriodicalId":49574,"journal":{"name":"Sao Paulo Medical Journal","volume":null,"pages":null},"PeriodicalIF":1.4,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"70956821","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2023-01-01DOI: 10.5327/1516-3180.141s1.716
Marcelle Sanjuan Ganem Prado, Darah Fontes da Silva Assunção, Luiza Ramos de Freitas, Paulo Henrique Maia de Freitas, Lohana Santana Almeida da Silva, Tamara Melissa Zavadzki Albuquerque, N. Mendes, Rônney Pinto Lopes, R. Marcusso, R. Gagliardi
Introduction: Stroke is characterized by the acute onset of one or more neurologic deficits that persist for at least 24 hours, and is the result of a vascular disorder in a defined territory, being the leading cause of disability. Late complications, such as sexual dysfunction, have a direct impact on psychological and emotional aspects and directly affect the quality of life of these patients. Objectives and methods: Cross-sectional study that aimed to determine the prevalence of sexual dysfunction in patients with ischemic stroke followed in the neurovascular outpatient clinic of a tertiary hospital in São Paulo, Brazil, using the Female Sexual Quotient (FSQ) questionnaire. The FSQ can range from 0-100 points. Higher values indicate better sexual performance/satisfaction and a score of 60 points or less was considered as having sexual dysfunction. Casuistics and results: Sixty-five questionnaires were analyzed and classified according to the FSQ score. Mean age was 52 years and median FSQ score was 54 points. Of the interviewees, 30.7% had their sexual performance classified as poor-null, 13.85% of patients had poor-unfavorable sexual performance, 15.38% as unfavorable-regular. Regular-good and good-great sexual performance were found in 21.54% and 18.46%, respectively. Discussion: In this study, only 40% of post-stroke women have regular-good and good-great sexual performance. The impact of the stroke on the sexual life of these patients is high, because most of the interviewees had sexual dysfunction according to FSQ. Conclusion: The health professional must be aware of the non-motor sequelae caused by the stroke and be prepared to help these patients in coping with sexual dysfunctions.
{"title":"Prevalence of sexual dysfunction in women with ischemic stroke: a cross-sectional study","authors":"Marcelle Sanjuan Ganem Prado, Darah Fontes da Silva Assunção, Luiza Ramos de Freitas, Paulo Henrique Maia de Freitas, Lohana Santana Almeida da Silva, Tamara Melissa Zavadzki Albuquerque, N. Mendes, Rônney Pinto Lopes, R. Marcusso, R. Gagliardi","doi":"10.5327/1516-3180.141s1.716","DOIUrl":"https://doi.org/10.5327/1516-3180.141s1.716","url":null,"abstract":"Introduction: Stroke is characterized by the acute onset of one or more neurologic deficits that persist for at least 24 hours, and is the result of a vascular disorder in a defined territory, being the leading cause of disability. Late complications, such as sexual dysfunction, have a direct impact on psychological and emotional aspects and directly affect the quality of life of these patients. Objectives and methods: Cross-sectional study that aimed to determine the prevalence of sexual dysfunction in patients with ischemic stroke followed in the neurovascular outpatient clinic of a tertiary hospital in São Paulo, Brazil, using the Female Sexual Quotient (FSQ) questionnaire. The FSQ can range from 0-100 points. Higher values indicate better sexual performance/satisfaction and a score of 60 points or less was considered as having sexual dysfunction. Casuistics and results: Sixty-five questionnaires were analyzed and classified according to the FSQ score. Mean age was 52 years and median FSQ score was 54 points. Of the interviewees, 30.7% had their sexual performance classified as poor-null, 13.85% of patients had poor-unfavorable sexual performance, 15.38% as unfavorable-regular. Regular-good and good-great sexual performance were found in 21.54% and 18.46%, respectively. Discussion: In this study, only 40% of post-stroke women have regular-good and good-great sexual performance. The impact of the stroke on the sexual life of these patients is high, because most of the interviewees had sexual dysfunction according to FSQ. Conclusion: The health professional must be aware of the non-motor sequelae caused by the stroke and be prepared to help these patients in coping with sexual dysfunctions.","PeriodicalId":49574,"journal":{"name":"Sao Paulo Medical Journal","volume":null,"pages":null},"PeriodicalIF":1.4,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"70957180","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
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