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1.
Rev. neuro-psiquiatr. (Impr.) ; 86(1): 18-29, ene. 2023. ilus, tab
Article in Spanish | LILACS, LIPECS | ID: biblio-1442081

ABSTRACT

La Ataxia-Telangiectasia (AT) es una rara enfermedad de herencia autosómica recesiva y de afección multisistémica, caracterizada por ataxia progresiva, inmunodeficiencia variable con infecciones recurrentes, riesgo incrementado de neoplasias con o sin telangiectasias óculo-cutáneas. La AT es causada por variantes patogénicas bialélicas en el gen ATM. Su diagnóstico se basa en la sospecha de un cuadro clínico compatible, niveles elevados de alfafetoproteína, atrofia cerebelosa y estudios genéticos. No existe tratamiento curativo de AT y su manejo se basa en medidas de soporte y prevención de complicaciones y asesoramiento genético. En esta revisión, actualizamos la epidemiología, manifestaciones clínicas, diagnóstico y tratamiento de AT incluyendo una búsqueda de casos publicados en el Perú.


Ataxia-Telangiectasia (AT) is a rare autosomal recessive disease with multisystemic involvement, characterized by slowly progressive ataxia, variable immunodeficiency with recurrent infections, increased risk of neoplasms with or without oculocutaneous telangiectasias. AT is caused by biallelic pathogenic variants within the ATM gene. Its diagnosis is based on suspicion of a compatible clinical symptomatology, increased levels of alpha-fetoprotein, cerebellar atrophy, and genetic testing. There is no curative treatment for AT and its management is based on supportive and preventive measures of eventual complications and genetic counseling. This review updates the epidemiology, clinical manifestations, diagnosis, and treatment of AT, including a search for cases published in Peru.


Subject(s)
Humans , Peru , Ataxia , Signs and Symptoms , Ataxia Telangiectasia , Epidemiology , Ataxia Telangiectasia Mutated Proteins
2.
J Neurol ; 269(4): 1776-1785, 2022 Apr.
Article in English | MEDLINE | ID: mdl-34477933

ABSTRACT

BACKGROUND: Surfer's myelopathy is a rare complication of spinal hyperextension originally described in novice surfers. However, reports from patients practicing different activities had risen. AIM: To systematically synthesize the epidemiological and clinical evidence on acute hyperextension-induced myelopathy ("Surfer's myelopathy") and propose new diagnostic criteria. METHODS: We systematically searched four databases for all observational and case studies on the topic. We performed a narrative synthesis to propose diagnostic criteria and tested the criteria retrospectively on the included cases. A case report is also presented. RESULTS: Forty-two articles reporting 104 cases (median age 19 years, slightly male predominance) were included. All cases reported a nontraumatic hyperextension event (58% after surfing). All of the cases presented pain of hyperacute onset. The most frequent clinical feature was bladder or bowel dysfunction (84%). The thoracic region was the most frequently affected (87%) with longitudinal involvement until the conus (67%). At discharge or follow-up, 52% partially recovered. We propose five diagnostic criteria with three levels of certainty (definite, probable, and possible): (1) nontraumatic spine hyperextension activity (in individuals with no pre-existent spinal disease); (2) hyperacute onset (with acute pain onset); (3) spinal cord injury clinic (motor, sensory, or autonomic deficit); (4) MRI findings with central spinal cord abnormalities (multiple segments); and (5) no other alternative diagnosis. We identified 88% definite and 12% probable/possible cases. CONCLUSION: The acute hyperextension-induced myelopathy could occur not only during surfing but also during other activities. Therefore, increased awareness and education among sports communities and general physicians are needed.


Subject(s)
Spinal Cord Diseases , Spinal Cord Injuries , Spinal Cord Ischemia , Sports , Adult , Humans , Male , Retrospective Studies , Spinal Cord Diseases/diagnostic imaging , Spinal Cord Diseases/etiology , Spinal Cord Injuries/complications , Spinal Cord Ischemia/complications , Spinal Cord Ischemia/diagnosis , Young Adult
3.
Arq Neuropsiquiatr ; 79(8): 697-704, 2021 08.
Article in English | MEDLINE | ID: mdl-34550186

ABSTRACT

BACKGROUND: Guillain-Barré syndrome (GBS) is an autoimmune disease that affects the peripheral nervous system. Severe motor deficit (SMD), respiratory impairment, cranial nerve involvement and autonomic dysfunction are associated with a poor prognosis. OBJECTIVE: To investigate the association between the clinical-epidemiological characteristics and the discharge results among Peruvian patients with GBS. METHODS: We carried out a retrospective observational study on patients with GBS who survived until discharge. We used the Brighton Collaboration's criteria and considered Hughes Severity Scale (HSS) scores greater than two to be SMD. We defined the discharge results as an improvement if the HSS score decreased by at least one point from admission to hospital discharge and defined hospital stay as prolonged if > 14 days. RESULTS: We analyzed 92 patients, among whom 70.7% were male. Quadriparesis (81.1%) and hyporeflexia (86.8%) were the most characteristic manifestations. We observed that more than half of the cases were in summer and winter. Gastrointestinal infections were associated with a higher proportion of prolonged stays. The proportion of improvement was lower among patients who had an SMD at hospital admission. We confirmed these results through fitting in multivariate models. CONCLUSIONS: The prolonged stay was related to previous gastrointestinal infection, while a less improvement in SMD individuals at admission. Prospective multicenter surveillance systems are needed for monitoring GBS cases in low-income settings like Peru.


Subject(s)
Guillain-Barre Syndrome , Patient Discharge , Guillain-Barre Syndrome/epidemiology , Hospitals , Humans , Male , Peru/epidemiology , Prospective Studies , Retrospective Studies
4.
Arq. neuropsiquiatr ; 79(8): 697-704, Aug. 2021. tab, graf
Article in English | LILACS | ID: biblio-1339230

ABSTRACT

ABSTRACT Background: Guillain-Barré syndrome (GBS) is an autoimmune disease that affects the peripheral nervous system. Severe motor deficit (SMD), respiratory impairment, cranial nerve involvement and autonomic dysfunction are associated with a poor prognosis. Objective: To investigate the association between the clinical-epidemiological characteristics and the discharge results among Peruvian patients with GBS. Methods: We carried out a retrospective observational study on patients with GBS who survived until discharge. We used the Brighton Collaboration's criteria and considered Hughes Severity Scale (HSS) scores greater than two to be SMD. We defined the discharge results as an improvement if the HSS score decreased by at least one point from admission to hospital discharge and defined hospital stay as prolonged if > 14 days. Results: We analyzed 92 patients, among whom 70.7% were male. Quadriparesis (81.1%) and hyporeflexia (86.8%) were the most characteristic manifestations. We observed that more than half of the cases were in summer and winter. Gastrointestinal infections were associated with a higher proportion of prolonged stays. The proportion of improvement was lower among patients who had an SMD at hospital admission. We confirmed these results through fitting in multivariate models. Conclusions: The prolonged stay was related to previous gastrointestinal infection, while a less improvement in SMD individuals at admission. Prospective multicenter surveillance systems are needed for monitoring GBS cases in low-income settings like Peru.


RESUMEN Antecedentes: El síndrome de Guillain-Barré (SGB) es una enfermedad autoinmune que afecta al sistema nervioso periférico. Déficit motor severo (DMS), compromiso respiratorio, afectación de pares craneales y disfunción autonómica se asocian con un mal pronóstico. Objetivo: Investigar la asociación entre las características clínico-epidemiológicas y los resultados del alta en pacientes peruanos con SGB. Métodos: Realizamos un estudio observacional retrospectivo de pacientes con SGB supervivientes hasta el alta. Consideramos los criterios de colaboración de Brighton y una escala de severidad de Hughes (ESH) superior a dos como un DMS. Definimos los resultados del alta como una mejoría si el ESH disminuyó en al menos un punto desde el ingreso hasta el alta hospitalaria y una estadía prolongada si el tiempo de hospitalización fue > 14 días. Resultados: Analizamos 92 pacientes, de los cuales el 70,7% eran varones. La cuadriparesia (81,1%) y la hiporreflexia (86,8%) fueron las manifestaciones más características. Observamos más de la mitad de los casos en verano e invierno. Las infecciones gastrointestinales se asociaron con una mayor proporción de estadías prolongadas. La proporción de mejoría fue menor en los pacientes que tenían un DMS al ingreso hospitalario. Confirmamos estos resultados con modelos multivariados ajustados. Conclusiones: La estadía prolongada se relacionó con infección gastrointestinal previa, mientras que una mejoría menor en individuos con DMS al ingreso. Necesitamos sistemas de vigilancia multicéntricos prospectivos para monitorear los casos de SGB en un entorno de bajos ingresos como Perú.


Subject(s)
Humans , Male , Patient Discharge , Guillain-Barre Syndrome/epidemiology , Peru/epidemiology , Prospective Studies , Retrospective Studies , Hospitals
5.
Indian J Tuberc ; 67(3): 286-294, 2020 Jul.
Article in English | MEDLINE | ID: mdl-32825855

ABSTRACT

CONTEXT: Intracranial tuberculomas are rare yet lethal forms of tuberculosis. Diagnosis is often difficult because of its nonspecific symptoms and radiological findings. AIM: This study aims to perform a literature review of multiple tuberculomas to improve disease recognition and management in immunocompetent patients along with presenting a case report on the topic. DATA SOURCES: Scopus, LILACS, Ovid MEDLINE and EMBASE. STUDY SELECTION: Case reports and case series up to December 2018 in English, Spanish, and Portuguese focusing on intracranial tuberculomas in adult and pediatric immunocompetent patients. Data on presentation, diagnostic workup, and treatment was analyzed. DATA EXTRACTION: Cochrane Collaboration/Cochrane Handbook and PRISMA guidelines. RESULTS: Twenty reports involving 21 patients were included. Most patients were male (57.14%). The average age at diagnosis was 26.9 ± 14.9 years. Headache was the most common presenting symptom (52.4%; 11/21), followed by motor weakness (47.6%; 10/21) and vomiting (23.8%; 5/21). MRI was the most used image technique (17/21). Most lesions occurring in the cerebral hemispheres (16/21); we found five or more lesions in 66.6% (14/21) of the patients. The majority treated with anti-tuberculous drugs resulted in a favorable outcome. CONCLUSIONS: Immunocompetent patients living in TB endemic areas whose clinical evaluation and neuroimaging findings are compatible with tuberculoma should undergo anti-tubercular treatment despite a lack of bacteriological confirmation.


Subject(s)
Antitubercular Agents/therapeutic use , Brain Diseases/diagnostic imaging , Glucocorticoids/therapeutic use , Tuberculoma, Intracranial/diagnostic imaging , Tuberculosis, Pulmonary/diagnostic imaging , Blindness/physiopathology , Brain/diagnostic imaging , Brain Diseases/drug therapy , Brain Diseases/immunology , Brain Diseases/physiopathology , Cerebellar Ataxia/physiopathology , Dexamethasone/therapeutic use , Drug Therapy, Combination , Endemic Diseases , Ethambutol/therapeutic use , Female , Humans , Immunocompetence , Isoniazid/therapeutic use , Magnetic Resonance Imaging , Nausea/physiopathology , Nystagmus, Pathologic/physiopathology , Peru , Pyrazinamide/therapeutic use , Quadriplegia/physiopathology , Rifampin/therapeutic use , Tomography, X-Ray Computed , Tuberculoma, Intracranial/drug therapy , Tuberculoma, Intracranial/immunology , Tuberculoma, Intracranial/physiopathology , Tuberculosis, Pulmonary/drug therapy , Tuberculosis, Pulmonary/immunology , Vomiting/physiopathology , Young Adult
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