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Objective To explore the value of multiparameter MRI for follow-up observation on changes of spinal cord microstructures in patients with hereditary spastic paraplegias type 5.Methods Eleven patients with SPG5 who underwent cervico-thoracic spinal cord MR examination and spastic paraplegia rating scale(SPRS)were prospectively enrolled.The second MR examination and SPRS were completed after 1 year follow-up,and the changes of SPRS score,the overall structures and microstructures of spinal cord were compared.Results No significant difference of SPRS scores was found(P>0.05).Compared to the first cervico-thoracic spinal cord MR examination,atrophy of spinal cord aggravated in the second time MRI.Significant difference of axial diffusivity of C4 right corticospinal tract(CST)was found(t=3.987,P<0.01),but not of the other parameters of C4(all P>0.05)between the first and the second time MRI.No significant difference of fractional anisotropy(FA),mean diffusivity(MD),AD,radial diffusivity(RD)nor T1 value of the other centrums'white matter,posterior funiculus or bilateral CST in spinal cord was found between the first and the second time MRI(all P>0.05).Meanwhile,no significant difference of CSA,left and right diameter nor anteroposterior diameter of C1-T9 was found between the first and second time MRI(all P>0.05).FA value of white matter,posterior funiculus and bilateral corticospinal tract in cervical spinal cord were all lower,whereas RD value at the above position were all higher in the second time MRI than those in the first time MRI(all P>0.05).Conclusion Multiparameter MRI could be used for follow-up observation on changes of microstructure spinal cord in patients with hereditary spastic paraplegias type 5.
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Objetivo: Relatar e compreender o cuidado de enfermagem à pessoa com paraplegia secundária a acidente automobilístico. Método:Estudo qualitativo descritivo, tipo relato de caso, realizado em hospital público de Feira de Santana/BA. Procedeu-se à entrevista, com uma participante em situação de paraplegia. Utilizou-se a elaboração da SAE e suas etapas considerando os aspectos da Teoria de Betty Neuman. Resultados:O relato da paciente e informações obtidas em prontuário demonstraram desinformações e condutas soltas que dificultam o cuidado, alimentavam sentimento de angústia e tristeza à paciente. Conclusão:proporcionou o entendimento acerca do indivíduo vítima de politrauma e suas necessidades, entendendo o adoecer com transcurso multifatorial onde segundo a teoria de Betty Neuman o ambiente e o indivíduo dialogam entre si surtindo efeito positivo e negativo sob o equilíbrio do corpo humano
Objective: To report and understand nursing care for individuals with paraplegia secondary to car accidents. Method:Descriptive qualitative study, in the form of a case report, conducted at a public hospital in Feira de Santana/BA. An interview was conducted with a participant in a paraplegic situation. The Nursing Process (NP) was developed, and its stages were considered, taking into account aspects of Betty Neuman's Theory. Results:The patient's account and information obtained from medical records revealed misinformation and disjointed behaviors that hindered care, fostering feelings of anguish and sadness in the patient. Conclusion:This study provided an understanding of individuals suffering from polytrauma and their needs, understanding illness as a multifactorial process where, according to Betty Neuman's theory, the environment and the individual interact, having both positive and negative effects on the balance of the human body.
Objetivo: Informar y comprender el cuidado de enfermería para personas con paraplejia secundaria a accidentes automovilísticos. Método:Estudio cualitativo descriptivo, tipo informe de caso, llevado a cabo en un hospital público en Feira de Santana/BA. Se realizó una entrevista con una participante en situación de paraplejia. Se utilizó el desarrollo del Proceso de Enfermería (PE) y sus etapas considerando los aspectos de la Teoría de Betty Neuman. Resultados:El relato de la paciente y la información obtenida de los registros médicos revelaron desinformación y conductas desarticuladas que dificultaron el cuidado, fomentando sentimientos de angustia y tristeza en la paciente. Conclusión:Este estudio proporcionó una comprensión de las necesidades de individuos que sufren politraumatismos, entendiendo la enfermedad como un proceso multifactorial donde, según la teoría de Betty Neuman, el entorno y el individuo interactúan, teniendo efectos tanto positivos como negativos en el equilibrio del cuerpo humano.
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Abstract Background Hereditary or familial spastic paraplegias (SPG) comprise a group of genetically and phenotypically heterogeneous diseases characterized by progressive degeneration of the corticospinal tracts. The complicated forms evolve with other various neurological signs and symptoms, including movement disorders and ataxia. Objective To summarize the clinical descriptions of SPG that manifest with movement disorders or ataxias to assist the clinician in the task of diagnosing these diseases. Methods We conducted a narrative review of the literature, including case reports, case series, review articles and observational studies published in English until December 2022. Results Juvenile or early-onset parkinsonism with variable levodopa-responsiveness have been reported, mainly in SPG7 and SPG11. Dystonia can be observed in patients with SPG7, SPG11, SPG22, SPG26, SPG35, SPG48, SPG49, SPG58, SPG64 and SPG76. Tremor is not a frequent finding in patients with SPG, but it is described in different types of SPG, including SPG7, SPG9, SPG11, SPG15, and SPG76. Myoclonus is rarely described in SPG, affecting patients with SPG4, SPG7, SPG35, SPG48, and SPOAN (spastic paraplegia, optic atrophy, and neuropathy). SPG4, SPG6, SPG10, SPG27, SPG30 and SPG31 may rarely present with ataxia with cerebellar atrophy. And autosomal recessive SPG such as SPG7 and SPG11 can also present with ataxia. Conclusion Patients with SPG may present with different forms of movement disorders such as parkinsonism, dystonia, tremor, myoclonus and ataxia. The specific movement disorder in the clinical manifestation of a patient with SPG may be a clinical clue for the diagnosis.
Resumo Antecedentes As paraplegias espásticas hereditárias ou familiares (SPG) compreendem um grupo de doenças geneticamente e fenotipicamente heterogêneas caracterizadas por degeneração progressiva dos tratos corticospinais. As formas complicadas evoluem com vários outros sinais e sintomas neurológicos, incluindo distúrbios do movimento e ataxia. Objetivo Resumir as descrições clínicas de SPG que se manifestam com distúrbios do movimento ou ataxias para auxiliar o clínico na tarefa de diagnosticar essas doenças. Métodos Realizamos uma revisão da literatura, incluindo relatos de casos, séries de casos, artigos de revisão e estudos observacionais publicados em inglês até dezembro de 2022. Resultados O parkinsonismo juvenil ou de início precoce com resposta variável à levodopa foi relatado principalmente em SPG7 e SPG11. A distonia pode ser observada em pacientes com SPG7, SPG11, SPG22, SPG26, SPG35, SPG48, SPG49, SPG58, SPG64 e SPG76. O tremor não é um achado frequente em pacientes com SPG, mas é descrito em diferentes tipos de SPG, incluindo SPG7, SPG9, SPG11, SPG15 e SPG76. A mioclonia é raramente descrita em SPG, afetando pacientes com SPG4, SPG7, SPG35, SPG48 e SPOAN (paraplegia espástica, atrofia óptica e neuropatia). SPG4, SPG6, SPG10, SPG27, SPG30 e SPG31 podem raramente apresentar ataxia com atrofia cerebelar. E SPG autossômico recessivo, como SPG7 e SPG11, também pode apresentar ataxia. Conclusão Indivíduos com SPG podem apresentar diferentes formas de distúrbios do movimento, como parkinsonismo, distonia, tremor, mioclonia e ataxia. O distúrbio específico do movimento na manifestação clínica de um paciente com SPG pode ser uma pista clínica para o diagnóstico.
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Las normativas legales peruanas como es la Ley 29973, busca la promoción, protección de las personas con discapacidad en el ámbito laboral logrando así el desarrollo, igualdad e inclusión social, política que actualmente aplicado en las instituciones públicas ni privadas en Perú. Objetivo. Analizar la influencia de la discapacidad física en la inserción laboral en Perú. Materiales y Métodos. La metodología que se utilizó estuvo enmarcada en el enfoque cuantitativo, el tipo de investigación fue básica causal explicativo, el método hipotético deductivo, el diseño de la investigación fue no experimental de corte transeccional. La población fue de 61 usuarios, la técnica utilizada para la recolección de datos fue la encuesta y como instrumento el cuestionario, los datos se analizaron mediante el software estadístico SPSS. El procesamiento estadístico fue no paramétrico de Chi-Cuadrada. Resultados. Como resultado de la investigación fue que el 31,1% de los usuarios manifestaron que no están insertados en el mercado laboral ya que la discapacidad física que poseen es de tipo paraplejia, es decir, que, ambas piernas carecen de movilidad lo cual es una restricción para su desarrollo y dificulta su integración en el mercado laboral. Conclusiones. La discapacidad influye significativamente en la inserción laboral de los usuarios de la Oficina Municipal de Atención a las Personas con Discapacidad.
Peruvian legal regulations such as Law 29973, seeks the promotion and protection of people with disabilities in the workplace, thus achieving development, equality and social inclusion, a policy that is currently applied in public and private institutions in Peru. Objective. To analyze the influence of physical disability on labor market insertion in Peru. Materials and Methods. The methodology used was framed in the quantitative approach, the type of research was basic causal explanatory, the method was hypothetical deductive, the research design was non-experimental of transectional cut. The population consisted of 61 users, the technique used for data collection was the survey and the instrument was the questionnaire; the data were analyzed using SPSS statistical software. The statistical processing was nonparametric Chi-Square. Results. As a result of the research, 31.1% of the users stated that they are not inserted in the labor market since the physical disability they have is paraplegia, that is, both legs lack mobility, which is a restriction for their development and hinders their integration in the labor market. Conclusions. Disability has a significant influence on the labor market insertion of the users of the Municipal Office of Attention to People with Disabilities.
As normas legais peruanas, como a Lei 29973, buscam a promoção e a proteção de pessoas com deficiência no local de trabalho, alcançando assim o desenvolvimento, a igualdade e a inclusão social, uma política que atualmente é aplicada em instituições públicas e privadas no Peru. Objetivo. Analisar a influência da deficiência física na inserção laboral no Peru. Materiais e métodos. A metodologia utilizada foi enquadrada no enfoque quantitativo, o tipo de pesquisa foi causal explicativa básica, o método foi hipotético dedutivo, o desenho da pesquisa foi de corte transeccional não experimental. A população foi de 61 usuários, a técnica utilizada para a coleta de dados foi a pesquisa e como instrumento o questionário, os dados foram analisados com o uso do software estatístico SPSS. O processamento estatístico foi o qui-quadrado não paramétrico. Resultados. Como resultado da pesquisa, 31,1% dos usuários afirmaram que não estão inseridos no mercado de trabalho porque a deficiência física que possuem é a paraplegia, ou seja, falta mobilidade nas duas pernas, o que é uma restrição para o seu desenvolvimento e dificulta a sua integração no mercado de trabalho. Conclusões. A deficiência tem uma influência significativa na inserção no mercado de trabalho dos usuários da Secretaria Municipal de Atenção às Pessoas com Deficiência.
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Surveys and Questionnaires , Disabled Persons , Job MarketABSTRACT
ABSTRACT Introduction: Paraplegia may develop as a result of spinal cord ischemia-reperfusion injury in patients who underwent thoracoabdominal aortic surgery. The objective of this research is to determine the neuroprotective effects of ginsenoside Rd pretreatment in a rat model of spinal cord ischemia-reperfusion injury. Methods: Sprague-Dawley rats (n=36) were randomly assigned to three groups. The sham (n=12) and control (n=12) groups received normal saline orally. The Rd group (n=12) received ginsenoside Rd (100 mg/kg) orally 48 hours before the induction of spinal cord ischemia. Spinal cord ischemia was induced by aortic occlusion using a Fogarty balloon catheter in the Rd and control groups. A neurological assessment according to the motor deficit index and a histological evaluation of the spinal cord were performed. To evaluate the antioxidant activity of ginsenoside Rd, malondialdehyde levels and superoxide dismutase activity were determined. Further, the tissue levels of tumor necrosis factor-alpha and interleukin-1 beta were measured. Results: The Rd group showed significantly lower motor deficit index scores than did the control group throughout the entire experimental period (P<0.001). The Rd group demonstrated significantly greater numbers of normal motor neurons than did the control group (P=0.039). The Rd group exhibited decreased malondialdehyde levels (P<0.001) and increased superoxide dismutase activity (P=0.029) compared to the control group. Tumor necrosis factor-alpha and interleukin-1 beta tissue levels were significantly decreased in the Rd group (P<0.001). Conclusion: Ginsenoside Rd pretreatment may be a promising treatment to prevent ischemia-reperfusion injury in patients who undergo thoracoabdominal aortic surgery.
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Objective:To investigate the clinical, imaging and gene variation characteristics of hereditary spastic paraplegia type 74 caused by mutations in IBA57 gene. Methods:A retrospective analysis was performed on 2 cases of autosomal recessive spastic paraplegia caused by mutations in IBA57 gene who visited the Department of Neurology, the Affiliated Wuxi Children′s Hospital of Nanjing Medical University in 2010 and 2021, and the patients′ clinical data were collected. Results:The 2 patients were siblings with onset age of 4 years and 7 months, 1 year and 3 months, respectively. The same compound heterozygous mutations in IBA57 gene were found in the sibling patients [c.473G>C (p.R158P) and c.697C>T (p.R233X)]. Both patients were diagnosed as spastic paraplegia type 74. They had mild to moderate gait abnormalities, optic atrophy, decreased vision, and leukodystrophy with periventricular white matter abnormality, but no obvious growth and mental retardation in developmental assessment. Conclusions:Cases of spastic paraplegia type 74 caused by compound heterozygous mutations in IBA57 gene mainly manifested as childhood onset and slowly progressive inferior spasmodic weakness. The patients did not display significant cognitive impairment, and imaging examinations showed obvious leukodystrophy.
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A 59-year-old man who was diagnosed with hypertension and a large thoracoabdominal aortic aneurysm was referred to our hospital for surgical treatment. He underwent open surgery and thoracic endovascular aneurysm repair in three stages. He developed paraplegia after the third surgery. Despite acute postoperative treatment and rehabilitation, his lower extremity motor function and bladder and bowel dysfunction did not improve. He was transferred to a recovery hospital 67 days after the third surgery. However, he was readmitted to our hospital about four months later for management of a refractory decubitus ulcer and recurrent urinary tract infections. Computed tomography revealed hematoma and calcification around the femur. Based on the clinical course and imaging findings, we diagnosed neurogenic heterotopic ossification associated with postoperative paraplegia in this patient. He had flap reconstruction for the ulcer. Finally, he was discharged 79 days after readmission. To date, no study has reported neurogenic heterotopic ossification associated with postoperative aortic aneurysm paraplegia. The mechanism underlying this condition is similar to the widely accepted process associated with traumatic spinal cord injury, and conservative treatment comprising pressure ulcer treatment and antibiotics was continued. Although acute rehabilitation is important after highly invasive aortic aneurysm surgery, rehabilitation is limited by the risk of neurogenic heterotopic ossification in patients with postoperative paraplegia, and recovery and maintenance of activities of daily living are challenging. To our knowledge, early diagnosis and prompt treatment for these complications are important considering neurogenic heterotopic ossification.
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An 11-day-old female neonate was admitted for cough with mouth foaming and feeding difficulties. The laboratory results indicated hyperlactatemia, elevated markers of myocardial injury and inflammation, and high levels of acylcarnitine octanoylcarnitine and decanoylcarnitine in tandem mass spectrometry. Ultrasonography and MRI suggested cardiac insufficiency and hypertrophic cardiomyopathy. Whole exome sequencing showed that both the proband and her elderly sister had a compound heterozygous variant of c.1492dup (p.T498Nfs*13) and c.1376T>C (p.F459S) in the ATAD3A gene, inherited from their father and mother, respectively. The diagnosis of Harel-Yoon syndrome was confirmed. The proband and her sister were born with clinical manifestations of metabolic acidosis, hyperlactatemia, feeding difficulties, elevated markers of myocardial injury as well as cardiac insufficiency, and both died in early infancy.
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Humans , Infant, Newborn , Female , Aged , Mutation , Hyperlactatemia , ATPases Associated with Diverse Cellular Activities/chemistry , Membrane Proteins/genetics , Mitochondrial Proteins/geneticsABSTRACT
Objective:To analyze the clinical, imaging and genetic characteristics of 2 pedigrees with hereditary spastic paraplegia type 7 (SPG7).Methods:The clinical data of the probands and related members of 2 families hospitalized in the Department of Neurology of Henan Provincial People′s Hospital from December 2018 to December 2021 were collected. The probands and all family members were subjected to cranial MRI imaging and genetic testing, and the clinical characteristics and genetic variation of SPG7 families were compared with those reported in the literature.Results:Four patients from the 2 families were observed with adult-onset age in this group. The main manifestations were wide-base ataxic gait in 4 cases, and spastic gait in 1 case during follow-up. Pyramidal tract involvement mainly in the lower limbs were found in all cases, and dysarthria in 3 cases. MRI of 3 patients showed varying degrees of cerebellar atrophy. Genetic testing revealed compound heterozygous or homozygous variants of the SPG7 gene in the 4 patients, of which c.2062C>T and c.2176C>T were novel mutations. At present, only 5 SPG7 families have been reported in China. Among the 12 patients in all groups, 12 cases of pyramidal tract involvement, 10 cases of cerebellar ataxia, 7 cases of dysarticulation, 3 cases of cognitive impairment, 11 cases of complex hereditary spastic paraplegia, 1 case of simple hereditary spastic paraplegia, and 9 cases of cerebellar atrophy were reported. Six novel mutations have been reported in 5 families. Conclusions:SPG7 family is rarely reported in China, mainly manifested as pyramidal tract involvement combined with cerebellar ataxia, accompanied by cerebellar atrophy. SPG7 mutation is confirmed by genetic detection, and there are many novel mutations in SPG7 family in China.
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Objective:To summarize the clinical phenotype and genetic characteristics of biallelic variation in HPDL leading to neurodevelopmental disorders with progressive spasticity and cerebral white matter abnormalities. Methods:The clinical and genetic data of 3 cases with neurodevelopmental disorders confirmed in the Department of Neurology of the Affiliated Children′s Hospital of Zhengzhou University from February 2018 to June 2022 were analyzed. The second-generation sequencing method was used to sequence the HPDL gene and the first-generation Sanger sequencing was used to verify the family members, and the characteristics of gene variants were summarized, and the 3 cases were treateds and followed-up. Results:Among the 3 children with neurodevelopmental disorders, 2 were females and 1 was male, and the age of onset was 25 days to 11 years of birth. In the clinical phenotypes, cases 1 and 2 were children with Leigh-like syndrome with infancy onset, with recurrent seizures, intelligent backwardness, language and motor delay, lactic acid increase, acidosis. Cranial magnetic resonance plain scan suggested deepening of the sulcus in the bilateral cerebral hemisphere, abnormal symmetrical signals in the basal ganglia, dorsal thalamus, cerebral peduncles and brainstem, expansion of the supratentorial ventricle, and thinning of the corpus callosum. And cranial magnetic resonance spectroscopy suggested visible lactate peaks in the measurement area of bilateral putamen lesions. Case 3 presented with spastic paraplegia, early motor retardation, and late spastic gait. The plain skull magnetic resonance imaging scan showed no abnormalities. In the 3 cases, the whole exon genome sequencing showed the heterozygous variant c.26_.28delGCC(p.Cys9_His10delinsTyr) and the parent missense heterozygous variant c.788C>T(p.Thr263Met), the paternal truncated variant c.1051C>T(p.Gln351 *) and the parent frameshift variant c.995de1C(p.Thr332Mfs * 9), the parent missense variant c.781C>G (p.Leu261Val) and the parent truncated variant c.721C>T (p.Gln241 *). The c.26_28delGCC(p.Cys9_His10delinsTyr) was an unreported site mutation. No abnormalities were found in chromosomal copy number variation and mitochondria-related genes. Cases 1 and 2 were treated with anti-seizure drugs and cocktail, and the seizure was under effective control; case 3 was treated with comprehensive treatment and rehabilitation function training, and exercise and intelligence were improved. Conclusions:The clinical phenotype of the biallelic variant in HPDL was Leigh-like syndrome and hereditary spastic paraplegia, characterized by compound heterozygous variant, including whole code, missense, frameshift, and truncated variants. Biallelic variation in HPDL was found to be the genetic etiology of the 3 probands.
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This report describes a case of an amputee with a lumber spinal cord injury who successfully recovered ambulation with the use of prosthesis.A 30-year-old man with schizophrenia underwent amputation of the lower legs and concurrently developed lumbar spinal cord injury from of a suicide attempt. After the treatment of stump plasty and posterior fusion, the patient was transferred to our facility. Lower-extremity prostheses for both legs were fitted, and orthostatic training was commenced following admission. During the initial evaluation, the patient could not maintain a stable standing position because of weakness in the hip extensor muscle. An inflexion angle of the prosthesis was set to 0° to extend the knee joint and achieve standing stability. Appropriate adjustments of the prosthesis were made as required, specifically addressing the paraplegia caused by his lumbar spinal cord injury. Thus, the patient successfully regained ambulation with the treatment.Recovering walking independence after bilateral lower leg amputations or paraplegia caused by lumber spinal cord injury is not uncommon. However, this case is unique in that the muscle weakness caused by lumbar spinal cord injury presented unforeseen difficulties for the patient to achieve ambulation, which is not ordinarily observed in amputation rehabilitation cases. No similar cases have been reported in which patients concurrently suffered from both these conditions in Japan;therefore, this case is extremely rare.
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This report describes a case of an amputee with a lumber spinal cord injury who successfully recovered ambulation with the use of prosthesis.A 30-year-old man with schizophrenia underwent amputation of the lower legs and concurrently developed lumbar spinal cord injury from of a suicide attempt. After the treatment of stump plasty and posterior fusion, the patient was transferred to our facility. Lower-extremity prostheses for both legs were fitted, and orthostatic training was commenced following admission. During the initial evaluation, the patient could not maintain a stable standing position because of weakness in the hip extensor muscle. An inflexion angle of the prosthesis was set to 0° to extend the knee joint and achieve standing stability. Appropriate adjustments of the prosthesis were made as required, specifically addressing the paraplegia caused by his lumbar spinal cord injury. Thus, the patient successfully regained ambulation with the treatment.Recovering walking independence after bilateral lower leg amputations or paraplegia caused by lumber spinal cord injury is not uncommon. However, this case is unique in that the muscle weakness caused by lumbar spinal cord injury presented unforeseen difficulties for the patient to achieve ambulation, which is not ordinarily observed in amputation rehabilitation cases. No similar cases have been reported in which patients concurrently suffered from both these conditions in Japan;therefore, this case is extremely rare.
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ABSTRACT Post-thoracotomy paraplegia after non-aortic surgery is an extremely uncommon complication. A 56-year-old woman presented with a 1-year history of progressive shortness of breath. Computed tomography revealed a locally advanced posterior mediastinal mass involving the ribs and the left neural foramina. Tumor excision with a left pneumonectomy was performed. Post-resection, bleeding was noted in the vicinity of the T4-T5 vertebral body, and the bleeding point was packed with oxidized cellulose gauze (Surgicel®). Postoperatively, the patient complained of bilateral leg numbness extending up to the T5 level, with bilateral paraplegia. An urgent laminectomy was performed, and we noted that the spinal cord was compressed by two masses of Surgicel® with blood clots measuring 1.5 × 1.5cm at T4 and T5 levels. The paraplegia did not improve despite the removal of the mass, sufficient decompression, and aggressive postoperative physiotherapy. Surgeons operating in fields close to the intervertebral foramen should be aware of the possible threat to the adjacent spinal canal as helpful hemostatic agents can become a preventable threat.
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ABSTRACT Spinal cord ischemia due to decreased cord perfusion is a devastating complication in patients with thoracoabdominal dissection following frozen elephant trunk (FET) repair surgery. However, rare occurrence of spinal cord ischemia leading to paraplegia after long-term follow-up of FET repair has been reported. Here, we describe a case of spinal cord ischemia resulting in paraplegia nine years after hybrid total arch repair with FET. Cerebrospinal fluid drainage and serial treatment were utilized to decrease intraspinal pressure and increase blood flow to the spinal cord. Three months after the onset of paraplegia and with treatment and rehabilitation, the patient recovered to walk.
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ABSTRACT Objective: to outline the profile of risk groups for spinal cord injury (SCI) at the Hospital de Clinicas de Campinas by an epidemiological survey of 41 patients with SCI. Methods: Data from patients with SCI were collected and analyzed: demographic data, level of neurological injury, visual analogue scale (VAS), and the current American Spinal Injury Association (ASIA) impairment scale (AIS), using questionnaires, medical records, and imaging tests. Fisher's exact test was used to assess the relationship between categorical variables, Spearman's correlation coefficient was used for numerical variables, and the Mann-Whitney and Kruskal-Wallis tests were used to analyze the relationship between categorical and numerical variables, with significance level of 5%. Results: There was a prevalence of 82.9% of men, a mean age of 26.5 years, and traffic accidents as the cause of SCI in 56.1% of cases. Conclusion: Results suggest the importance of SCI prevention campaigns directed at this population. Level of Evidence II, Retrospective Study.
RESUMO Objetivo: Traçar o perfil dos grupos de risco para trauma raquimedular (TRM) do Hospital das Clínicas de Campinas através de levantamento epidemiológico de 41 pacientes vítimas de TRM. Métodos: Foram coletados e analisados dados demográficos, nível da lesão neurológica, escala visual analógica (EVA) e American Spinal Injury Association impairment scale (AIS) atuais, através da aplicação de questionários, análise de prontuários e de exames de imagem. Para avaliar a relação entre as variáveis categóricas foi utilizado o teste exato de Fisher; para as variáveis numéricas foi utilizado o coeficiente de correlação de Spearman; e para a análise da relação entre variáveis categóricas e numéricas foram utilizados os testes de Mann-Whitney e Kruskal-Wallis, adotando nível de significância de 5%. Resultados: Houve prevalência de 82,9% do sexo masculino, média de idade de 26,5 anos e de 56,1% casos de TRM causados por acidente automobilístico. Conclusão: Os resultados sugerem a importância da realização de campanhas de prevenção ao TRM voltadas para essa população. Nível de Evidência II, Estudo Retrospectivo.
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Introducción: Los trastornos funcionales son un reto clínico en la atención de pacientes con déficits neurológicos. Pueden generar manifestaciones clínicas típicas y gran discapacidad. Para su diagnóstico se requiere de una alta sospecha inicial asociado a una batería de examen físico completa. Hallazgos clínicos: Presentamos el caso de una paciente indígena embarazada de 19 años, con pérdida de la fuerza en sus extremidades inferiores, un nivel sensitivo y pérdida del control de los esfínteres. Luego de una evolución estacionaria con estudios imagenológicos e infectocontagiosos dentro de la normalidad. Se sospechó el diagnóstico de un trastorno neurológico funcional por lo que se realizó la prueba del Spinal Injuries Center (SIC) el cual fue positivo. Tratamiento y evolución: Realizamos una intervención multidisciplinar, incluyendo el servicio de rehabilitación, neurología, psiquiatría y psicología. Se utilizaron intervenciones con movimientos articulares, fortalecimiento muscular, estimulación eléctrica y psicoterapia. Posteriormente se obtuvo la recuperación completa de la paciente antes del alta hospitalaria, con la exigencia de seguimiento ambulatorio, además de una inserción satisfactoria en las actividades sociales y familiares. Conclusiones: Este caso refleja la importancia de un análisis neurológico detallado, el conocimiento de diferentes herramientas de semiología y el reto diagnóstico de los trastornos funcionales en neurológicos. La intervención de un equipo multidisciplinar favorece abordajes multidimensionales y resultados clínicos favorables.
Introduction: Functional disorders pose a clinical challenge in the care of patients with neurological deficits. They can generate typical clinical manifestations and great disability. Diagnosis requires a high initial suspicion together with comprehensive physical examination. Clinical Findings: We present the case of a 19-year-old pregnant indigenous patient, with loss of strength in her lower extremities, with a sensitive level and loss of sphincter control. After a stationary evolution with imaging and infectious studies within normal limits, a diagnosis of a functional neurological disorder was suspected; thus, the Spinal Injuries Center (SIC) test was performed, showing positive results. Treatment and evolution: A multidisciplinary intervention was carried out, including the neurology, psychiatry and psychology rehabilitation. Interventions amied towards joint movements, muscle strengthening, electrical stimulation and psychotherapy were used. Eventually, the patient's complete recovery was achieved before hospital discharge, in addition to a satisfactory integration into social and family activities, with a outpatient follow-up requirement. Conclusions: This case reflects the importance of a detailed neurological analysis, knowledge of different semiology tools and the diagnostic challenge of functional neurological disorders. The intervention of a multidisciplinary team favors multidimensional approaches and favorable clinical results.
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Abstract Objective: To describe the speech pattern of patients with hereditary Spastic Paraplegia type 4 (SPG4) and correlated it with their clinical data. Methods: Cross-sectional study was carried out in two university hospitals in Brazil. Two groups participated in the study: the case group (n = 28) with a confirmed genetic diagnosis for SPG4 and a control group (n = 17) matched for sex and age. The speech assessment of both groups included: speech task recording, acoustic analysis, and auditory-perceptual analysis. In addition, disease severity was assessed with the Spastic Paraplegia Rating Scale (SPRS). Results: In the auditory-perceptual analysis, 53.5% (n = 15) of individuals with SPG4 were dysarthric, with mild to moderate changes in the subsystems of phonation and articulation. On acoustic analysis, SPG4 subjects' performances were worse in measurements related to breathing (maximum phonation time) and articulation (speech rate, articulation rate). The articulation variables (speech rate, articulation rate) are related to the age of onset of the first motor symptom. Conclusion: Dysarthria in SPG4 is frequent and mild, and it did not evolve in conjunction with more advanced motor diseases. This data suggest that diagnosed patients should be screened and referred for speech therapy evaluation and those pathophysiological mechanisms of speech involvement may differ from the length-dependent degeneration of the corticospinal tract.
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ABSTRACT Introduction: Hereditary spastic paraplegia (HSP) is the term for a group of neurological disorders characterized by progressive spasticity and muscle weakness in the lower limbs. Its etiology is genetic and has been associated with mutations in more than 60 genes. HSP is rare and may be useful in the differential diagnosis of cerebral palsy. Case presentation: 16-year-old male with a diagnosis of HSP due to mutation of the NIPAi gene:c.316G>A (p. Gly106arg), which corresponds to HSP type 6 (SPG6). The patient presented with clinical signs of progressive upper motor neuron syndrome in the lower limbs, such as spasticity, hyperreflexia and paraparesis, associated with focal onset seizures diagnosed at age 11 and successfully treated with valproic acid. Spasticity treatment was complex and included oral baclofen, intraoperative botulinum toxin, physical therapy, and multilevel orthopedic surgery for the management of musculoskeletal deformities. Conclusion: This is a rare case of complex HSP, associated with epilepsy, due to the mutation of the NIPAi gene (SPG6), the most common pathogenic variant within this type of mutation. The present case demonstrates the importance of making an early diagnosis of GSP6 to perform timely interventions in these patients, prevent complications, and avoid a higher level of disability.
RESUMEN Introducción. La paraplejía espástica hereditaria (PEH) es un grupo de trastornos neurológicos caracterizados por espasticidad progresiva y debilidad muscular de miembros inferiores. Su etiología es genética y se ha asociado con mutaciones en más de 60 genes. La PEH es poco frecuente y puede ser útil en el diagnóstico diferencial de la parálisis cerebral. Presentación de caso. Adolescente masculino de 16 años con diagnóstico de PEH por mutación del gen NIPAi: c. 316G>A (p. Gly106arg), correspondiente a una PEH tipo 6 (SPG6). El paciente presentó signos clínicos de síndrome de motoneurona superior progresivos en miembros inferiores como espasticidad, hiperreflexia y paraparesia, asociados a epilepsia de inicio focal diagnosticada a los 11 años y tratada satisfactoriamente con ácido valproico. El manejo de la espasticidad fue complejo e incluyó baclofeno oral, toxina botulínica intraoperatoria, terapia física y cirugía ortopédica multinivel para manejo de deformidades musculoesqueléticas en miembros inferiores. Conclusión. El presente caso demuestra la importancia de realizar un diagnóstico temprano de la SPG6 (variante más común de la PEH) para realizar intervenciones oportunas en estos pacientes, prevenir complicaciones y evitar un mayor nivel de discapacidad.
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Resumen La espondiloartropatía destructiva es una patología osteoarticular presente en algunos pacientes con enfermedad crónica que puede afectar varios niveles de la columna vertebral y puede ser asintomática, generar dolor o causar complicaciones que ponen en peligro la integridad de la médula espinal y/o la vida. Presentamos el caso de un hombre de 70 años con enfermedad renal crónica terminal en hemodiálisis quien consultó por dolor dorsal y paraplejia, en quien se diagnosticó espondiloartropatía destructiva no infecciosa por imágenes y estudio histopatológico. Este caso nos muestra la importancia de pensar en esta patología y la necesidad de un enfoque multidisciplinario en el diagnóstico y manejo. (Acta Med Colomb 2022; 47. DOI:https://doi.org/10.36104/amc.2022.2193).
Abstract Destructive spondyloarthropathy is a bone and joint disease which presents in some patients with chronic illnesses and may affect various levels of the spinal column. It may be asymptomatic, cause pain, or produce spinal cord and/or life-endangering complications. We present the case of a 70-year-old man with end-stage renal disease on hemodialysis who consulted due to back pain and paraplegia. He was diagnosed with destructive noninfectious spondyloarthropathy through imaging and histopathological studies. This case shows us the importance of considering this disease and the need for a multidisciplinary approach in its diagnosis and management. (Acta Med Colomb 2022; 47. DOI:https://doi.org/10.36104/amc.2022.2193).
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Hereditary spastic paraplegia (HSP) is a neurodegenerative disease with clinical manifestations of increased muscle tone, enhanced tendon reflex and positive pathological reflex of both lower limbs.Currently, the pathological mechanism of HSP is considered as bilateral corticospinal axonal degeneration.So far, more than 80 pathogenic genes have been reported to be associated with the pathogenesis of HSP, among which spastic paraplegia type 4 (SPG4) caused by SPAST mutation is the most common.Genetic testing is crucial for diagnosing and typing HSP.The incidence of this disease is low.Although it is not a short-term fatal disease, it will seriously affect the patient′s self-care ability and cause seriously psychological burden to the patient with the progress of the disease.There is no effective cure for the disease at present.In this paper, the therapeutic methods of HSP are reviewed from different aspects: small molecular compounds, gene therapy, rehabilitation therapy and surgical treatment.