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1.
Rehabilitación (Madr., Ed. impr.) ; 58(1): [100825], Ene-Mar, 2024. ilus
Artigo em Espanhol | IBECS | ID: ibc-229693

RESUMO

La agenesia completa unilateral de trapecio es una afección infrecuente, reportada anteriormente en la literatura tras su hallazgo en muestras cadavéricas. Afecta a la estática, biomecánica y funcionalidad de la cintura escapular, por lo que es especialmente importante realizar una exhaustiva exploración física del paciente en consulta para descartarla o sospecharla. Presentamos el caso de un niño de 8 años con asimetría de la cintura escapular y escápula alada, remitido a la consulta de Rehabilitación por sospecha de distrofia facioescapulohumeral. La RM confirmó la agenesia de músculo trapecio derecho. No había alteración de la funcionalidad en el paciente. No se encontraron otras anomalías congénitas.(AU)


Congenital unilateral absence of trapezius is a rare condition, previously reported in cadaveric specimens. It can cause static shoulder asymmetry and affects the scapular biomechanics and functionality, so complete physical examination of the patient becomes important in order to dimiss or suspect an anomaly.We present a case of a 8 years old boy with asymmetry and scapular winging, who was referred to rehabilitation, suspected facioscapulohumeral dystrophy. An MRI scan of cervical spine and shoulder confirmed the absence of the right trapezius muscle. There were no functional disabilities. No other significant congenital anomalies were found.(AU)


Assuntos
Humanos , Feminino , Criança , Síndrome de Poland/reabilitação , Escápula , Músculos Superficiais do Dorso , Pacientes Internados , Exame Físico , Imageamento por Ressonância Magnética
2.
Rehabilitacion (Madr) ; 58(1): 100825, 2024.
Artigo em Espanhol | MEDLINE | ID: mdl-38141278

RESUMO

Congenital unilateral absence of trapezius is a rare condition, previously reported in cadaveric specimens. It can cause static shoulder asymmetry and affects the scapular biomechanics and functionality, so complete physical examination of the patient becomes important in order to dimiss or suspect an anomaly. We present a case of a 8 years old boy with asymmetry and scapular winging, who was referred to rehabilitation, suspected facioscapulohumeral dystrophy. An MRI scan of cervical spine and shoulder confirmed the absence of the right trapezius muscle. There were no functional disabilities. No other significant congenital anomalies were found.


Assuntos
Músculos Superficiais do Dorso , Masculino , Humanos , Criança , Escápula , Extremidade Superior , Imageamento por Ressonância Magnética
3.
Rehabilitación (Madr., Ed. impr.) ; 57(2): [100740], Abr-Jun 2023. graf
Artigo em Espanhol | IBECS | ID: ibc-218559

RESUMO

Introducción: El daño cerebral adquirido (DCA) se define como una lesión neurológica, acaecida de forma aguda, en algún momento de la vida provocando deficiencia o pérdida de capacidad funcional. En el año 2019 se crea un documento específico por parte del defensor del pueblo señalando la relevancia de la atención a esta entidad en la edad pediátrica. Pacientes y método: Se presenta el proceso de creación y la casuística de atención de una de las primeras unidades de atención integral al DCA en fase subaguda en edad pediátrica dentro del sistema público de salud.Resultados: Se han elaborado diferentes guías clínicas sobre el proceso de admisión y atención dentro de la unidad, tanto al paciente como a sus familiares. Se han atendido 24 pacientes ≤18 años, ingresados en la unidad de DCA en fase subaguda desde noviembre de 2019 hasta julio de 2021, 12 provenientes de la Comunidad de Madrid. La mediana de edad fue de 6,97 años. El mecanismo traumático fue el más frecuente predominando las causas iatrogénicas, seguido de la precipitación y los accidentes relacionados con vehículos. A su ingreso en la unidad, 8 mantenían un estado de mínima conciencia/vegetativo. Se requirió la colaboración de hasta 14 especialistas diferentes dada la complejidad de los pacientes. La evolución fue globalmente favorable en 23 casos, con secuelas en todos ellos. Conclusión: Es de vital importancia la creación de unidades especializadas en la atención al DCA en edad pediátrica con protocolos de actuación específicos y un trabajo coordinado trans- y multidisciplinar.(AU)


Introduction: Acquired brain injury (ABI) is defined as a neurological injury, acutely occurred, at some point in life causing impairment or loss of functional capacity. In 2019, a specific document was created by the Ombudsman pointing out the relevance of attention to this entity in the pediatric age. Patients and method: The process of creation and the casuistry of care of one of the first comprehensive care units for subacute ACD in pediatric age within the public health system is presented. Results: Different clinical guidelines have been prepared on the admission and care process within the unit, both for patients and their relatives. Twenty-four patients ≤18 years old, admitted to the subacute phase ACD unit from November 2019 to July 2021, 12 coming from the Community of Madrid, were attended. The median age was 6.97 years. Traumatic mechanism was the most frequent, with iatrogenic causes predominating, followed by precipitation and vehicle-related accidents. On admission to the unit, 8 maintained a minimally conscious/vegetative state. The collaboration of up to 14 different specialists was required due to the complexity of the patients. The overall evolution was favorable in 23 cases, with sequelae in all of them. Conclusion: The creation of units specialized in pediatric ACD care with specific action protocols and coordinated trans- and multidisciplinary work is of vital importance.(AU)


Assuntos
Humanos , Masculino , Feminino , Criança , Dano Encefálico Crônico , Guias de Prática Clínica como Assunto , Lesões Encefálicas Traumáticas , Acidente Vascular Cerebral , Pediatria , Estudos Retrospectivos , Estudos Transversais
4.
Neurología (Barc., Ed. impr.) ; 38(1): 8-15, enero 2023. tab
Artigo em Espanhol | IBECS | ID: ibc-214934

RESUMO

Introducción: El daño cerebral adquirido (DCA) pediátrico provoca dificultades cognitivo/conductuales y altera el curso del desarrollo. La unidad de DCA del Hospital Infantil Universitario Niño Jesús es la primera dentro del sistema público de salud en dar cobertura integral a pacientes y familias.ObjetivoSe pretende mostrar la metodología de trabajo con los niños y sus familias, describir las características clínicas de los pacientes atendidos y los resultados en cuanto a los tratamientos aplicados.Sujetos53 niños entre los tres meses y los 16 años y medio recibieron tratamiento. Las patologías atendidas son tumores cerebrales, accidentes cerebrovasculares, traumatismos craneoencefálicos, daño tras cirugía de la epilepsia e hipoxia.MétodoA todos los pacientes se le realizó una evaluación al ingreso y otra al alta. Los tratamientos se modulan en función de las dificultades y su gravedad, así como de la edad del niño. Las familias son atendidas tanto individualmente como en formato grupal.ResultadosUna mayor edad del niño se asocia con mejor recuperación del nivel cognitivo y menor duración del tratamiento. Las patologías tienen un impacto diferencial en el CI/CD evaluado al inicio de tratamiento, la hipoxia y las encefalitis son las que asocian mayor gravedad. Las puntuaciones al alta del CI/CD, así como las de memoria verbal y atención, mejoraron significativamente respecto a las del ingreso tras el tratamiento neuropsicológico multicomponente.ConclusionesLa atención al DCA debe incluir programas de rehabilitación neuropsicológica y proporcionar soporte emocional a la familia para que pueda participar activamente en la recuperación del niño o adolescente. (AU)


Introduction: Paediatric acquired brain injury (ABI) causes cognitive and behavioural difficulties and alters the course of child development. The ABI unit at Hospital Infantil Universitario Niño Jesús is the first within the public Spanish health system to provide comprehensive coverage to these patients and their families.ObjectiveThis study aims to show the working methodology followed with patients and their families, and to describe the clinical characteristics of the patients treated and the outcomes of treatment.PatientsFifty-three patients aged between three months and 16 and a half years received treatment. The conditions treated were brain tumours, stroke, traumatic brain injury, damage secondary to epilepsy surgery, and hypoxia.MethodsAll patients were evaluated at admission and at discharge. Treatments were adapted to each patient's difficulties and their severity, as well as to the patient's age. Families received individual and group therapy.ResultsOlder age was associated with better cognitive recovery and shorter duration of treatment. Different conditions show differential impact on intelligence quotient and developmental quotient scores at the beginning of treatment, with hypoxia and encephalitis being associated with greatest severity. Intelligence quotient and developmental quotient scores and visual memory and attention scores at discharge improved significantly after the faceted neuropsychological treatment with respect to scores registered at admission.ConclusionsThe care of patients with ABI should include neuropsychological rehabilitation programmes and provide emotional support to the family so that they may actively participate in the recovery of the child or adolescent. (AU)


Assuntos
Humanos , Dano Encefálico Crônico , Pediatria , Lesões Encefálicas Traumáticas , Acidente Vascular Cerebral
5.
Rehabilitacion (Madr) ; 57(2): 100740, 2023.
Artigo em Espanhol | MEDLINE | ID: mdl-35637029

RESUMO

INTRODUCTION: Acquired brain injury (ABI) is defined as a neurological injury, acutely occurred, at some point in life causing impairment or loss of functional capacity. In 2019, a specific document was created by the Ombudsman pointing out the relevance of attention to this entity in the pediatric age. PATIENTS AND METHOD: The process of creation and the casuistry of care of one of the first comprehensive care units for subacute ACD in pediatric age within the public health system is presented. RESULTS: Different clinical guidelines have been prepared on the admission and care process within the unit, both for patients and their relatives. Twenty-four patients ≤18 years old, admitted to the subacute phase ACD unit from November 2019 to July 2021, 12 coming from the Community of Madrid, were attended. The median age was 6.97 years. Traumatic mechanism was the most frequent, with iatrogenic causes predominating, followed by precipitation and vehicle-related accidents. On admission to the unit, 8 maintained a minimally conscious/vegetative state. The collaboration of up to 14 different specialists was required due to the complexity of the patients. The overall evolution was favorable in 23 cases, with sequelae in all of them. CONCLUSION: The creation of units specialized in pediatric ACD care with specific action protocols and coordinated trans- and multidisciplinary work is of vital importance.


Assuntos
Lesões Encefálicas , Saúde Pública , Humanos , Criança , Adolescente , Estudos Retrospectivos , Lesões Encefálicas/epidemiologia , Lesões Encefálicas/terapia , Lesões Encefálicas/complicações , Hospitalização , Tempo de Internação , Estado Vegetativo Persistente
6.
Neurologia (Engl Ed) ; 38(1): 8-14, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-36162700

RESUMO

INTRODUCTION: Paediatric acquired brain injury (ABI) causes cognitive and behavioural difficulties and alters the course of child development. The ABI unit at Hospital Infantil Universitario Niño Jesús is the first within the public Spanish health system to provide comprehensive coverage to these patients and their families. OBJECTIVE: This study aims to show the working methodology followed with patients and their families, and to describe the clinical characteristics of the patients treated and the outcomes of treatment. PATIENTS: Fifty-three patients aged between 3 months and 16 and a half years received treatment. The conditions treated were brain tumours, stroke, traumatic brain injury, damage secondary to epilepsy surgery, and hypoxia. METHODS: All patients were evaluated at admission and at discharge. Treatments were adapted to each patient's difficulties and their severity, as well as to the patient's age. Families received individual and group therapy. RESULTS: Older age was associated with better cognitive recovery and shorter duration of treatment. Different conditions show differential impact on intelligence quotient and developmental quotient scores at the beginning of treatment, with hypoxia and encephalitis being associated with greatest severity. Intelligence quotient and developmental quotient scores and visual memory and attention scores at discharge improved significantly after the faceted neuropsychological treatment with respect to scores registered at admission. CONCLUSIONS: The care of patients with ABI should include neuropsychological rehabilitation programmes and provide emotional support to the family so that they may actively participate in the recovery of the child or adolescent.


Assuntos
Lesões Encefálicas , Acidente Vascular Cerebral , Adolescente , Humanos , Criança , Lactente , Saúde Pública , Memória , Acidente Vascular Cerebral/complicações , Hospitalização
7.
Rev. neurol. (Ed. impr.) ; 74(11): 361-366, Jun 1, 2022. tab, graf, ilus
Artigo em Espanhol | IBECS | ID: ibc-217704

RESUMO

Objetivos: Durante la pandemia de la COVID-19 se ha descrito una mayor frecuencia de parálisis facial periférica en adultos y niños. La etiología no está clara, ya que la mayoría de los casos ocurrió en pacientes negativos en las pruebas microbiológicas para confirmar infección por el SARS-CoV-2. Pacientes y métodos: Es un estudio retrospectivo de casos pediátricos de parálisis facial periférica atendidos el primer año de la pandemia en el servicio de urgencias de un hospital pediátrico ubicado en una de las zonas con mayor prevalencia de COVID-19 en España. Los casos de este período se comparan con los casos de los tres años anteriores. Resultados: Se incluyó a 29 pacientes. En los tres años anteriores, 24 pacientes presentaron la misma enfermedad, lo que supone que los casos se triplicaron. No se encontraron diferencias entre períodos, salvo que menos pacientes recibieron corticoides durante la pandemia (13,8 frente a 41,6%; p = 0,022). Catorce niños se sometieron a pruebas microbiológicas para detectar infección activa por el SARS-CoV-2 (12 reacciones en cadena de la polimerasa y dos test rápidos de antígenos), y todas fueron negativas. En 13 pacientes se realizó serología, y dos presentaron inmunoglobulina G positiva (15,3%). Conclusión: Se observó un aumento significativo de los casos de parálisis facial periférica en niños y adolescentes durante el primer año de la pandemia, aunque las pruebas microbiológicas no pueden confirmar un vínculo directo con la infección por el SARS-CoV-2 en la mayoría de los casos. Las características de los pacientes no cambiaron entre los dos períodos. La dificultad para acceder a los centros de atención primaria durante la pandemia pudo influir en este aumento.(AU)


Objectives: During the COVID-19 pandemic, an increased frequency of peripheral facial nerve palsy has been described in adults and children. The etiology of the disease during this time remains unclear, since most cases occurred in patients who tested negative for SARS-CoV-2 infection. Patients and methods: Retrospective study of pediatric cases of facial nerve palsy treated during the first year of the pandemic in the emergency department of a children´s hospital located in one of the areas with the highest prevalence of COVID-19 in Spain. Data from this period are compared with cases from the previous three years. Results: Twenty-nine patients with Bell’s palsy were included. Over the previous three years combined, 24 patients presented with the same condition, a more than threefold increase. No clinical differences were found between the groups apart from the fact that fewer patients received corticosteroids during the pandemic (13.8% vs 41.6%; p = 0.022). Fourteen children underwent microbiologic testing for active SARS-CoV-2 infection (12 polymerase chain reaction, two rapid antigen test); all were negative. Thirteen patients received serologic testing, two with a positive IgG (15.3%). Conclusion: A substantial increase in hospital presentations for facial nerve palsy was observed among children and adolescents during the first year of the pandemic, though findings of microbiologic testing cannot confirm a direct link with SARS-CoV-2 infection in most cases. Patient characteristics did not change between the two time periods. Difficulty accessing primary-care facilities during the pandemic in Spain may have played a role in this increase.(AU)


Assuntos
Humanos , Masculino , Feminino , Criança , Paralisia Facial , Infecções por Coronavirus/epidemiologia , Pandemias , Coronavírus Relacionado à Síndrome Respiratória Aguda Grave , Medicina de Emergência , Paralisia de Bell , Neurologia , Pediatria , Estudos Retrospectivos
8.
Rev Neurol ; 74(11): 361-366, 2022 06 01.
Artigo em Inglês, Espanhol | MEDLINE | ID: mdl-35635362

RESUMO

OBJECTIVES: During the COVID-19 pandemic, an increased frequency of peripheral facial nerve palsy has been described in adults and children. The etiology of the disease during this time remains unclear, since most cases occurred in patients who tested negative for SARS-CoV-2 infection. PATIENTS AND METHODS: Retrospective study of pediatric cases of facial nerve palsy treated during the first year of the pandemic in the emergency department of a children´s hospital located in one of the areas with the highest prevalence of COVID-19 in Spain. Data from this period are compared with cases from the previous three years. RESULTS: Twenty-nine patients with Bell's palsy were included. Over the previous three years combined, 24 patients presented with the same condition, a more than threefold increase. No clinical differences were found between the groups apart from the fact that fewer patients received corticosteroids during the pandemic (13.8% vs 41.6%; p = 0.022). Fourteen children underwent microbiologic testing for active SARS-CoV-2 infection (12 polymerase chain reaction, two rapid antigen test); all were negative. Thirteen patients received serologic testing, two with a positive IgG (15.3%). CONCLUSION: A substantial increase in hospital presentations for facial nerve palsy was observed among children and adolescents during the first year of the pandemic, though findings of microbiologic testing cannot confirm a direct link with SARS-CoV-2 infection in most cases. Patient characteristics did not change between the two time periods. Difficulty accessing primary-care facilities during the pandemic in Spain may have played a role in this increase.


TITLE: Parálisis facial periférica en población pediátrica durante la pandemia de la COVID-19.Objetivos. Durante la pandemia de la COVID-19 se ha descrito una mayor frecuencia de parálisis facial periférica en adultos y niños. La etiología no está clara, ya que la mayoría de los casos ocurrió en pacientes negativos en las pruebas microbiológicas para confirmar infección por el SARS-CoV-2. Pacientes y métodos. Es un estudio retrospectivo de casos pediátricos de parálisis facial periférica atendidos el primer año de la pandemia en el servicio de urgencias de un hospital pediátrico ubicado en una de las zonas con mayor prevalencia de COVID-19 en España. Los casos de este período se comparan con los casos de los tres años anteriores. Resultados. Se incluyó a 29 pacientes. En los tres años anteriores, 24 pacientes presentaron la misma enfermedad, lo que supone que los casos se triplicaron. No se encontraron diferencias entre períodos, salvo que menos pacientes recibieron corticoides durante la pandemia (13,8 frente a 41,6%; p = 0,022). Catorce niños se sometieron a pruebas microbiológicas para detectar infección activa por el SARS-CoV-2 (12 reacciones en cadena de la polimerasa y dos test rápidos de antígenos), y todas fueron negativas. En 13 pacientes se realizó serología, y dos presentaron inmunoglobulina G positiva (15,3%). Conclusión. Se observó un aumento significativo de los casos de parálisis facial periférica en niños y adolescentes durante el primer año de la pandemia, aunque las pruebas microbiológicas no pueden confirmar un vínculo directo con la infección por el SARS-CoV-2 en la mayoría de los casos. Las características de los pacientes no cambiaron entre los dos períodos. La dificultad para acceder a los centros de atención primaria durante la pandemia pudo influir en este aumento.


Assuntos
COVID-19 , Paralisia Facial , Adolescente , Adulto , COVID-19/complicações , COVID-19/epidemiologia , Criança , Nervo Facial , Paralisia Facial/epidemiologia , Paralisia Facial/etiologia , Humanos , Pandemias , Estudos Retrospectivos , SARS-CoV-2
9.
Neurologia (Engl Ed) ; 2020 Jun 22.
Artigo em Inglês, Espanhol | MEDLINE | ID: mdl-32586695

RESUMO

INTRODUCTION: Paediatric acquired brain injury (ABI) causes cognitive and behavioural difficulties and alters the course of child development. The ABI unit at Hospital Infantil Universitario Niño Jesús is the first within the public Spanish health system to provide comprehensive coverage to these patients and their families. OBJECTIVE: This study aims to show the working methodology followed with patients and their families, and to describe the clinical characteristics of the patients treated and the outcomes of treatment. PATIENTS: Fifty-three patients aged between three months and 16 and a half years received treatment. The conditions treated were brain tumours, stroke, traumatic brain injury, damage secondary to epilepsy surgery, and hypoxia. METHODS: All patients were evaluated at admission and at discharge. Treatments were adapted to each patient's difficulties and their severity, as well as to the patient's age. Families received individual and group therapy. RESULTS: Older age was associated with better cognitive recovery and shorter duration of treatment. Different conditions show differential impact on intelligence quotient and developmental quotient scores at the beginning of treatment, with hypoxia and encephalitis being associated with greatest severity. Intelligence quotient and developmental quotient scores and visual memory and attention scores at discharge improved significantly after the faceted neuropsychological treatment with respect to scores registered at admission. CONCLUSIONS: The care of patients with ABI should include neuropsychological rehabilitation programmes and provide emotional support to the family so that they may actively participate in the recovery of the child or adolescent.

10.
Rev Neurol ; 64(s03): S1-S7, 2017 May 17.
Artigo em Espanhol | MEDLINE | ID: mdl-28524211

RESUMO

Brain injury is one of the most frequent causes of death and disability in the child and adolescent. The improvement in patient care in the acute moment and the evolution of health care has meant and increase in the survival of these patients and also of the sequelae. Physical, cognitive-behavioral or organic symptoms are usually. The second is being one of the most frequent and most limiting in these patients. The brain injury affects the patient but involves the whole family because of the disability and the dependence it entails. The team is multidisciplinary and the rehabilitation physician performs the coordination functions. The family should receive assistance from the first day and are an important part in the proper evolution of patients. The treatment must be individualized and adapted for each patient and usually last between 6 and 18 months.


TITLE: Tratamiento rehabilitador en el paciente infantojuvenil con daño cerebral adquirido.El daño cerebral es una de las causas mas frecuentes de muerte y discapacidad en la poblacion infantojuvenil. La mejoria en la atencion a los pacientes en el momento agudo y la evolucion de la asistencia sanitaria han supuesto un aumento de la supervivencia de estos pacientes y tambien de las secuelas. Secuelas fisicas, cognitivo-conductuales u organicas son frecuentes, y las segundas son unas de las mas frecuentes y mas limitantes en estos pacientes. El daño cerebral afecta al paciente, pero involucra a toda la familia por la discapacidad que implica y por la dependencia que conlleva. El equipo es multidisciplinar, y el medico rehabilitador hace las funciones de coordinacion. La familia debe recibir asistencia desde el primer dia y es parte importante en la evolucion adecuada de los pacientes. El tratamiento debe ser individualizado y adaptado para cada paciente, y suele durar entre 6 y 18 meses.


Assuntos
Lesões Encefálicas/reabilitação , Adolescente , Dano Encefálico Crônico/etiologia , Dano Encefálico Crônico/psicologia , Dano Encefálico Crônico/reabilitação , Lesões Encefálicas/complicações , Lesões Encefálicas/psicologia , Cuidadores/educação , Cuidadores/psicologia , Criança , Transtornos do Comportamento Infantil/etiologia , Transtornos do Comportamento Infantil/parasitologia , Transtornos do Comportamento Infantil/reabilitação , Transtornos Cognitivos/etiologia , Transtornos Cognitivos/parasitologia , Transtornos Cognitivos/reabilitação , Terapia Combinada , Avaliação da Deficiência , Gerenciamento Clínico , Relações Familiares , Humanos , Equipe de Assistência ao Paciente , Medicina de Precisão , Qualidade de Vida , Centros de Reabilitação , Índice de Gravidade de Doença , Resultado do Tratamento
11.
Rehabilitación (Madr., Ed. impr.) ; 45(2): 166-169, abr.-jun.2011.
Artigo em Espanhol | IBECS | ID: ibc-129056

RESUMO

La arteriopatía autosómica dominante con infartos subcorticales y leucoencefalopatía (CADASIL) es una angiopatía con herencia autosómica dominante por mutación en el gen NOTCH3 del cromosoma 19. La enfermedad produce migraña con aura, alteraciones psiquiátricas, episodios isquémicos y déficit cognitivos. Su evolución es progresiva y escalonada. Su diagnóstico requiere confirmación detectando la mutación genética característica y/o cambios anatomopatológicos en la piel. El caso que se presenta es un varón de 63 años con cuadros neurológicos episódicos de hemiparesia izquierda y síndrome seudobulbar, con secuelas progresivas. En febrero de 2004 se le diagnosticó CADASIL con mutación G428A (Gys171Tyr) en el exón 4 del gen NOTCH3. Se pautó tratamiento de rehabilitación durante 3 meses utilizando técnicas de fisioterapia y terapia ocupacional. Al año el resultado del tratamiento ha sido satisfactorio. El curso progresivamente incapacitante y la ausencia de tratamiento etiológico hace fundamental un programa adecuado y multidisciplinario de rehabilitación(AU)


CADASIL (cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy) is a dominant autosomal hereditary angiopathy produced by the mutation of NOCTH 3 gene in chromosome number 19. The symptoms of the disease include migraine with aurea, psychiatric problems, ischemic episodes and cognitive deficits. The typical course of CADASIL is slowly progressive. The diagnosis must be genetically confirmed through the detection of its characteristic mutations and/or some cutaneous pathological changes. We present the case of a 63-year-old man who suffered from episodic neurological deficits, left hemiparesis, pseudobulbar syndrome, and progressive sequelae. In February 2004, the diagnosis of CADASIL was reached, due to mutation G428A (Gys171Tyr) in exon number 4 of NOTCH 3 gene. Treatment was performed with physical and occupational therapy for 3 months. At one year of follow-up, the result was satisfactory. Due to the disabling and progressive outcome of the disease, and to the lack of etiological treatment, physical and occupational therapy are paramount to minimize its functional impact and sequelae(AU)


Assuntos
Humanos , Masculino , Pessoa de Meia-Idade , Doença de Moyamoya/reabilitação , Doenças Vasculares Periféricas/reabilitação , Cromossomos Humanos Par 19 , Enxaqueca com Aura/reabilitação , Paresia/reabilitação , Modalidades de Fisioterapia , Especialidade de Fisioterapia/métodos , Paresia/complicações , Paresia/diagnóstico , Modalidades de Fisioterapia/estatística & dados numéricos , Modalidades de Fisioterapia/tendências , Especialidade de Fisioterapia/organização & administração , Especialidade de Fisioterapia/tendências
12.
Rehabilitación (Madr., Ed. impr.) ; 45(2): 173-176, abr.-jun.2011.
Artigo em Espanhol | IBECS | ID: ibc-129058

RESUMO

La neurofibromatosis tipo 2 (NF2) es una enfermedad autosómica dominante (AD) que predispone a múltiples lesiones neoplásicas; el neurinoma del acústico bilateral es patognomónico. Es frecuente la presencia en el mismo paciente de varios tipos de tumores con estirpe patológica y localización diferentes, lo que hace más difícil las decisiones terapéuticas, especialmente en niños y adolescentes. El trastorno se localiza en el cromosoma 22q12. Las distintas modalidades de cirugía y radioterapia son armas fundamentales en el tratamiento de la NF2. El tratamiento rehabilitador individualizado influye en el pronóstico funcional final. El seguimiento clínico y de neuroimagen debe tener como objetivo el control evolutivo de los tumores y la decisión terapéutica(AU)


Neurofibromatosis type 2 (NF2) is an autosomal dominant (AD) disease that predisposes to multiple neoplasms; the bilateral acoustic neuroma is pathognomonic. The presence of several types of tumors having different pathological lineage and localization is frequent in the same patient. This hinds treatment decisions, especially in children and adolescents. The disorder is located on chromosome 22q12. The different types of surgery and radiotherapy are essential tools for the treatment of NF2. Therefore, individualized rehabilitation treatment influences the final functional prognosis. The purpose of the clinical and neuroimaging follow-up should be that of controlling the progression of tumors and therapeutic decision(AU)


Assuntos
Humanos , Masculino , Feminino , Criança , Adolescente , Neurofibromatose 2/complicações , Neurofibromatose 2/diagnóstico , Neurofibromatose 2/reabilitação , Neurilemoma/etiologia , Neurilemoma/cirurgia , Diagnóstico por Imagem/métodos , Neurofibromatose 2/radioterapia , Neurofibromatose 2/cirurgia , Prognóstico , Neurilemoma/reabilitação
13.
Rehabilitación (Madr., Ed. impr.) ; 42(5): 256-259, sept. 2008. ilus
Artigo em Es | IBECS | ID: ibc-68987

RESUMO

El síndrome del ¿hombre en barril? (SHB) describe un cuadro clínico poco frecuente de paresia braquial proximal bilateral con movilidad conservada de miembros inferiores y musculatura facial, secundario a una hipotensión arterial sistémica con hipoperfusión encefálica que origina infartos isquémicos bilaterales en territorios limítrofes entre la arteria cerebral media y la anterior, de pronóstico muy grave. Ocurre tras parada cardiopulmonar, shock hipovolémico, sobredosis de narcóticos, hipotensión tras infarto de miocardio u oclusión de la vía aérea, y supone del 5 al 12 % de los accidentes isquémicos. Presentamos el caso de un sujeto de 27 años, diagnosticado de endocarditis por estreptococo con insuficiencia aórtica severa y arteritis de la arteria pulmonar, intervenido mediante sustitución valvular aórtica y limpieza arterial. En el postoperatorio se observa focalidad motora compatible con SHB debido a encefalopatía hipoxoisquémica en territorio frontera bihemisférico. Describimos su evolución y tratamiento, destacando la buena recuperación que ha presentado en contra de lo encontrado en la literatura


The man-in-the-barrel syndrome (MIB) describes an uncommon clinical picture of bilateral proximal brachial paralysis with preserved mobility of the lower limbs and facial muscles, secondary to systemic arterial hypotension with hypoperfusion encephalic, bilateral ischemic strokes originating in territories bordering between the anterior and medial cerebral arteries, with very serious prognosis. It occurs after a cardiopulmonary arrest, hypovolemic shock, overdose of narcotics, hypotension after myocardial infarction or occlusion of the airway and accounts for 5 % to 12 % of the ischemic attacks. We present the case of a 27-year-old man, diagnosed with endocarditis by streptococcus with severe aortic insufficiency and arteritis of the pulmonary artery, with an intervention for aortic valve replacement and arterial cleaning. During post-intervention, motor focality consistent with MIB syndrome due to hypoxoischemic encephalopathy in the bihemispheric border territory was observed. We describe his evolution and treatment, stressing his good recovery on the contrary to that found in the literature (AU)


Assuntos
Humanos , Masculino , Adulto , Endocardite Bacteriana/complicações , Neuropatias do Plexo Braquial/reabilitação , Hipotensão/complicações , Infarto Cerebral/etiologia , Isquemia Encefálica/etiologia , Insuficiência da Valva Aórtica/complicações
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