RESUMO
BACKGROUND: Hemicrania continua is a rare form of cephalalgia featuring a chronic and persistent headache in only one side of the head. OBJECTIVES: In this report, we present a case of a patient with hemicrania continua and systemic lupus erythematosus (SLE). METHODS: We collected patient data through the electronic medical record. Afterward, we reviewed the literature regarding hemicrania continua and its pathophysiology and correlation with neurovascular alterations, inflammation, and SLE. RESULTS: A 42-year-old woman visited the emergency department due to worsening constant unilateral cephalalgia that had been present for the past 6 months. The patient reported a highly intense (10/10) headache in the entire left hemicrania that radiated to the left shoulder. During physical examination, she presented with nystagmus, vertigo, and aggravated cephalalgia associated to body movement and, despite having no optic nerve thickening. In addition, she had jaundice, tachycardia, and splenomegaly. Complimentary exams found deep anemia, depletion in complement system and anti-nuclear factors, suggesting a possible hemolytic anemia (AIHA) due to SLE. Treatment was initiated with hydrocortisone and prednisone, associated with amitriptyline, fluoxetine and diazepam, reaching full remission. CONCLUSION: These syndromes have aggravated each other, and possibly the explanation for the cephalalgia remission was the control of AIHA and SLE. It features a rare case in literature and thus warrants discussion.
INTRODUÇÃO: Hemicrania contínua é uma forma rara de cefaléia caracterizada por cefaleia crônica e persistente em apenas um lado da cabeça. OBJETIVOS: Neste relato apresentamos o caso de um paciente com hemicrania contínua e lúpus eritematoso sistêmico (LES). MÉTODOS: Coletamos dados dos pacientes por meio do prontuário eletrônico. Posteriormente, revisamos a literatura sobre a hemicrania contínua e sua fisiopatologia e correlação com alterações neurovasculares, inflamação e LES. RESULTADOS: Uma mulher de 42 anos recorreu ao serviço de urgência devido ao agravamento da cefaleia unilateral constante, presente nos últimos 6 meses. O paciente relatou cefaleia de alta intensidade (10/10) em toda a hemicrânia esquerda com irradiação para o ombro esquerdo. Ao exame físico apresentava nistagmo, vertigem e cefaléia agravada associada à movimentação corporal e, apesar de não apresentar espessamento do nervo óptico. Além disso, ela apresentava icterícia, taquicardia e esplenomegalia. Os exames complementares evidenciaram anemia profunda, depleção do sistema complemento e fatores antinucleares, sugerindo uma possível anemia hemolítica (AIHA) por LES. Iniciou-se tratamento com hidrocortisona e prednisona, associadas a amitriptilina, fluoxetina e diazepam, atingindo remissão completa. CONCLUSÃO: Essas síndromes agravaram-se mutuamente e possivelmente a explicação para a remissão da cefaléia foi o controle da AIHA e do LES. Apresenta um caso raro na literatura e, portanto, merece discussão.
Assuntos
Humanos , Transtornos da Cefaleia/complicações , Cefaleia/complicações , Doenças Raras/complicaçõesRESUMO
The coexistence of MDS and pulmonary hypertension (PH) is not a common finding and often goes unnoticed because symptoms such as dyspnea can be confused with the underlying pathology. The annual incidence of idiopathic pulmonary arterial hypertension (PAH) is only around 0.2 cases per 100,000 inhabitants, while MDS is 1 to 8 cases per 100,000 inhabitants. This review summarizes the clinical manifestations, functional respiratory tests, hemodynamic parameters using right heart catheterization, and imaging findings using echocardiography and tomography of pulmonary hypertension in myelodysplastic syndrome. We centered our discussion on the diagnosis of these patients within the hematologic disorders, especially in patients with the detriment of the functional class, as we were not used to looking for this diagnosis as a first choice. Several specialties dealing with patients with hematologic disorders (internists, hematologists, family physicians, geriatrics, oncologists) will find helpful the contents of this review.
Assuntos
Hipertensão Pulmonar , Síndromes Mielodisplásicas , Hipertensão Arterial Pulmonar , Humanos , Hipertensão Pulmonar/diagnóstico , Hipertensão Pulmonar/epidemiologia , Hipertensão Pulmonar/etiologia , Doenças Raras/epidemiologia , Doenças Raras/complicações , Hipertensão Pulmonar Primária Familiar/complicações , Síndromes Mielodisplásicas/complicações , Síndromes Mielodisplásicas/diagnóstico , Síndromes Mielodisplásicas/epidemiologiaRESUMO
INTRODUCTION: Splenic abscess secondary to endocarditis is a rare complication with high mortality. The treatment modality, splenectomy versus percutaneous drainage, and the best time, before or after valve replacement, are controversial. In the literature, there are only a few small case series about the subject. The objective of this study is to analyze the experience of a referral center in treating such condition. METHODS: Patients with splenic abscesses due to endocarditis from 2006 to 2020 were retrospectively analyzed. RESULTS: Thirteen patients (mean age 46 years old, 69% male) were identified. Eight patients (62%) had at least 2 comorbidities and 5 (38%) had a history of cardiac surgery. The diagnosis was incidental in 6 (46%). The mean time of abscess diagnosis after endocarditis definition was 14 days. Six patients (46%) had at least two organ dysfunctions. The median APACHE II score was 12 overall, and 24.5 in patients who died. Six patients (46%) had a valve replacement, and in two the abscess was diagnosed postoperatively. Of the other four patients, splenectomy was performed before the cardiac operation in three and at the same time in one. Splenectomy was performed immediately in 9 (69%) patients while three patients had percutaneous drainage (23%), one of which underwent splenectomy due to drainage failure. Exclusive antibiotic treatment was performed on only one patient. The median length of hospitalization was 24 days and mortality was 46%. CONCLUSION: Splenic abscess due to endocarditis is a life-threatening condition with controversial treatment that results in a prolonged length of stay and high mortality.
Assuntos
Abscesso Abdominal , Endocardite , Esplenopatias , Abscesso/etiologia , Abscesso/cirurgia , Antibacterianos/uso terapêutico , Brasil/epidemiologia , Endocardite/complicações , Endocardite/diagnóstico , Endocardite/cirurgia , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Doenças Raras/complicações , Doenças Raras/tratamento farmacológico , Estudos Retrospectivos , Esplenopatias/etiologia , Esplenopatias/cirurgiaRESUMO
In the framework of the vaccination campaign against the SARS-CoV-2 virus, the Chilean Ministry of Health requested advice from the Genetics Branch of the Chilean Society of Pediatrics, to define the level of prioritization for people with Down Syndrome . A panel of geneticists worked on the development of this consensus, in which not only patients with Down syndrome were included, but the search was extended to patients with other types of disabilities, in both pediatric and adult ages in or der to contribute to the development of public health measures against the COVID-19 pandemic. The consensus concludes that, given the prevalence of comorbidities associated with Down syndrome, the higher incidence of cases with severe COVID-19 in this population group and a higher mortality, individuals with trisomy 21 should be considered as a high-risk population, and therefore, vaccina tion against SARS-CoV-2 should have a high priority for all people with Down syndrome regardless of their age (except for the age limit established by the clinical trials of each vaccine), and should be preceded only by the groups of health personnel and adults aged > 60-65 years. Likewise, this group of experts urges health authorities to include people with intellectual disabilities and related conditions as a priority population (other chromosomal abnormalities other than Down syndrome, intellectual disability, congenital anomalies and conditions that cause disability with microcephaly), as well as the caregivers of people with this type of conditions. Vaccination in children with this type of disorders should be considered as part of the first priority group, once safe vaccines against SARS-CoV-2 are available for use in children and adolescents.
Assuntos
Vacinas contra COVID-19 , COVID-19/prevenção & controle , Síndrome de Down/complicações , Alocação de Recursos para a Atenção à Saúde/normas , Doenças Raras/complicações , Adolescente , Adulto , Idoso , COVID-19/diagnóstico , COVID-19/epidemiologia , COVID-19/etiologia , Criança , Chile/epidemiologia , Alocação de Recursos para a Atenção à Saúde/métodos , Humanos , Incidência , Pessoa de Meia-Idade , Medição de Risco , Fatores de Risco , Índice de Gravidade de Doença , Adulto JovemRESUMO
A síndrome de Lemierre caracteriza-se por uma rara entidade que gera tromboflebite da veia jugular interna e embolismo séptico em história da infecção recente da orofaringe, além de sinais radiológicos e isolamento de patógenos anaeróbicos, principalmente Fusobacterium necrophorum. Relatamos o caso de uma paciente do sexo feminino, 13 anos de idade, com histórico de carcinoma de nasofaringe associado ao vírus Epstein-Barr (estadiamento T4N2M0), submetida a procedimentos cirúrgicos e quimiorradioterapia. Iniciou com queixa de mialgia intensa, diplopia, lesões infectadas em membros e choque séptico. Por meio de exames de ultrassonografia cervical com Doppler colorido e tomografia computadorizada de pescoço com contraste endovenoso, foram identificados trombos intraluminais na veia jugular interna, além de trombos sépticos pulmonares, por meio da tomografia computadorizada de tórax. Posteriormente, ainda evoluiu com artrite piogênica coxofemoral esquerda. Foi isolada, por hemocultura, a bactéria Klebsiella pneumoniae Carpemenase, e o tratamento se deu pela associação entre vancomicina, amicacina, meropenem, metronidazol e anfotericina B. Conclui-se que, após o diagnóstico de SL e, embora com múltiplas complicações e diagnóstico tardio, a paciente encontra-se bem e assintomática, além do relato comprovar a dificuldade diagnóstica e de seu tratamento
Lemierre's syndrome is a rare condition that leads to thrombophlebitis of the internal jugular vein and septic embolism following recent oropharyngeal infection, being characterized by radiological signs and isolation of anaerobic pathogens, especially Fusobacterium necrophorum. We report the case of a 13-year-old female patient with history of nasopharyngeal carcinoma associated with Epstein-Barr virus (T4N2M0 staging), who underwent surgical procedures and chemoradiotherapy. Her initial complaint was severe myalgia, diplopia, infected limb injuries, and septic shock. Cervical color Doppler ultrasound and computed tomography scan of the neck with intravenous contrast showed intraluminal thrombi in the internal jugular vein, and chest computed tomography showed pulmonary septic thrombi. Subsequently, she progressed with left coxofemoral pyogenic arthritis. The bacterium Klebsiella pneumoniae Carpemenase was isolated in blood culture, and the patient was treated with the association of vancomycin, amikacin, meropenem, metronidazole, and amphotericin B. It is concluded that, despite the multiple complications and late diagnosis, the patient is well and asymptomatic after the diagnosis of Lemierre's syndrome; in addition, the report proves the difficulty of diagnosis and treatme
Assuntos
Humanos , Feminino , Adolescente , Embolia Pulmonar/etiologia , Artrite Infecciosa/etiologia , Síndrome de Lemierre/complicações , Articulação do Quadril/microbiologia , Klebsiella pneumoniae/isolamento & purificação , Antivirais/uso terapêutico , Derrame Pleural/diagnóstico por imagem , Embolia Pulmonar/diagnóstico por imagem , Esvaziamento Cervical , Sinovite/diagnóstico por imagem , Artrite Infecciosa/diagnóstico por imagem , Tomografia Computadorizada por Raios X , Neoplasias Nasofaríngeas/virologia , Herpesvirus Humano 4/isolamento & purificação , Ultrassonografia Doppler em Cores , Doenças Raras/complicações , Diagnóstico Diferencial , Diagnóstico Tardio , Síndrome de Lemierre/diagnóstico , Síndrome de Lemierre/microbiologia , Síndrome de Lemierre/sangue , Síndrome de Lemierre/virologia , Hemocultura , Antibacterianos/uso terapêutico , Anticoagulantes/uso terapêuticoRESUMO
Abstract Care for patients with chronic and rare diseases is complex, especially considering the lack of knowledge about the disease, which makes early and precise diagnosis difficult, as well as the need for specific tests, sometimes of high complexity and cost. Added to these factors are difficulties in obtaining adequate treatment when available, in raising patient and family awareness about the disease and treatment compliance. Nephropathic cystinosis is among these diseases. After more than 20 years as a care center for these patients, the authors propose a follow-up protocol, which has been used with improvement in the quality of care and consists of a multidisciplinary approach, including care provided by a physician, nurse, psychologist, nutritionist and social worker. In this paper, each field objectively exposes how to address points that involve the stages of diagnosis and its communication with the patient and their relatives or guardians, covering the particularities of the disease and the treatment, the impact on the lives of patients and families, the approach to psychological and social issues and guidelines on medications and diets. This protocol could be adapted to the follow-up of patients with other rare diseases, including those with renal involvement. This proposal is expected to reach the largest number of professionals involved in the follow-up of these patients, strengthening the bases for the creation of a national protocol, observing the particularities of each case.
Resumo A assistência a pacientes com doenças crônicas e raras é complexa, principalmente pela falta de disseminação de conhecimento sobre a doença, o que dificulta o diagnóstico preciso e precoce, além da necessidade da realização de exames específicos, por vezes de alta complexidade e custo. Somam-se a esses fatores dificuldades na obtenção de tratamento adequado quando disponível, na conscientização do paciente e da família sobre a doença e na aderência ao tratamento. A cistinose nefropática está entre essas doenças. Após mais de 20 anos como centro de atendimento a esses pacientes, os autores propõem um protocolo de seguimento, o qual vem sendo empregado com melhora na qualidade da assistência e consiste de uma abordagem multidisciplinar, incluindo, principalmente, atendimento prestado por médico, enfermeiro, psicólogo, nutricionista e assistente social. Neste artigo, cada área expõe de maneira objetiva como abordar pontos que envolvem as etapas do diagnóstico e sua comunicação ao paciente e a seus familiares ou responsáveis, abrangendo as particularidades da doença e do tratamento, o impacto na vida do paciente e de sua família, a abordagem das questões psicológicas e sociais e orientações quanto a medicamentos e dietas. Considera-se que este protocolo poderia ser adaptado ao seguimento de pacientes portadores de outras doenças raras, incluindo aquelas com envolvimento renal. Com essa proposta, espera-se alcançar o maior número de profissionais envolvidos no seguimento desses pacientes, fortalecendo as bases para a criação de um protocolo nacional, observando-se as particularidades de cada caso.
Assuntos
Humanos , Masculino , Feminino , Recém-Nascido , Lactente , Pré-Escolar , Criança , Adolescente , Adulto , Adulto Jovem , Cistinose/diagnóstico , Cistinose/terapia , Doenças Raras/diagnóstico , Síndrome de Fanconi/diagnóstico , Síndrome de Fanconi/tratamento farmacológico , Equipe de Assistência ao Paciente , Gravidez , Protocolos Clínicos , Diálise Renal , Transplante de Rim , Resultado do Tratamento , Cistinose/complicações , Cistinose/psicologia , Doenças Raras/complicações , Doenças Raras/psicologia , Doenças Raras/tratamento farmacológico , Diálise , Síndrome de Fanconi/complicações , Síndrome de Fanconi/psicologia , Falência Renal Crônica/etiologiaRESUMO
Care for patients with chronic and rare diseases is complex, especially considering the lack of knowledge about the disease, which makes early and precise diagnosis difficult, as well as the need for specific tests, sometimes of high complexity and cost. Added to these factors are difficulties in obtaining adequate treatment when available, in raising patient and family awareness about the disease and treatment compliance. Nephropathic cystinosis is among these diseases. After more than 20 years as a care center for these patients, the authors propose a follow-up protocol, which has been used with improvement in the quality of care and consists of a multidisciplinary approach, including care provided by a physician, nurse, psychologist, nutritionist and social worker. In this paper, each field objectively exposes how to address points that involve the stages of diagnosis and its communication with the patient and their relatives or guardians, covering the particularities of the disease and the treatment, the impact on the lives of patients and families, the approach to psychological and social issues and guidelines on medications and diets. This protocol could be adapted to the follow-up of patients with other rare diseases, including those with renal involvement. This proposal is expected to reach the largest number of professionals involved in the follow-up of these patients, strengthening the bases for the creation of a national protocol, observing the particularities of each case.
Assuntos
Cistinose/diagnóstico , Cistinose/tratamento farmacológico , Síndrome de Fanconi/diagnóstico , Síndrome de Fanconi/tratamento farmacológico , Doenças Raras/diagnóstico , Doenças Raras/tratamento farmacológico , Adolescente , Adulto , Criança , Pré-Escolar , Protocolos Clínicos , Cistinose/complicações , Cistinose/psicologia , Diálise , Síndrome de Fanconi/complicações , Síndrome de Fanconi/psicologia , Feminino , Humanos , Lactente , Recém-Nascido , Falência Renal Crônica/etiologia , Transplante de Rim , Masculino , Equipe de Assistência ao Paciente , Gravidez , Doenças Raras/complicações , Doenças Raras/psicologia , Diálise Renal , Resultado do Tratamento , Adulto JovemAssuntos
Adipose Dolorosa/metabolismo , Lipomatose/metabolismo , Doenças Raras/metabolismo , 1-Alquil-2-acetilglicerofosfocolina Esterase/sangue , Adipose Dolorosa/complicações , Adipose Dolorosa/diagnóstico por imagem , Proteína C-Reativa , Criança , HDL-Colesterol/sangue , Dislipidemias/sangue , Feminino , Humanos , Lipomatose/diagnóstico , Lipoproteínas/sangue , Dor/etiologia , Doenças Raras/complicações , Doenças Raras/diagnóstico por imagemAssuntos
Humanos , Feminino , Criança , Adipose Dolorosa/metabolismo , Doenças Raras/metabolismo , Lipomatose/metabolismo , Dor/etiologia , Proteína C-Reativa , Adipose Dolorosa/complicações , Adipose Dolorosa/diagnóstico por imagem , Doenças Raras/complicações , Doenças Raras/diagnóstico por imagem , 1-Alquil-2-acetilglicerofosfocolina Esterase/sangue , Dislipidemias/sangue , Lipomatose/diagnóstico , Lipoproteínas/sangue , HDL-Colesterol/sangueRESUMO
Frantz' tumours or solid pseudopapillary tumours of the pancreas are rare neoplasms with low malignant potential. Young women in the second to third decades of life are more frequently affected. The treatment of choice is resection of the lesion, which is often curative. The recurrence is uncommon when radical surgical resection is used. Radiological characteristics are important for the correct diagnosis, since the preoperative planning is fundamental to obtain the cure. The objective of this study is to report a rare case of locoregional recurrence and to review the radiological findings of solid pseudopapillary tumours of the pancreas in the literature, as well to know the incidence and risk factors of tumor recurrence. This case report is from a 37-year-old female patient evaluated at an Oncologic Hospital, in the city of São Paulo, Brazil, who presented an uncommon evolution of the disease, characterized by local recurrence despite the complete resection of the primary lesion with free margins.