Your browser doesn't support javascript.
loading
Mostrar: 20 | 50 | 100
Resultados 1 - 20 de 1.156
Filtrar
1.
Int. j. morphol ; 38(3): 793-798, June 2020. graf
Artigo em Inglês | LILACS | ID: biblio-1098321

RESUMO

Sirenomelia or mermaid syndrome is an extremely rare congenital lethal malformation with a frequency between 1.5 and 4.2 per 1 000 000 pregnancies.The association of sirenomelia with the VACTERL association is very rare, with twenty cases reported in the literature and only two cases with VACTERL-H. We present two cases of sirenomelia, type I and type II associated with VACTERL-H and VACTERL syndromes and we review the literature. First time pregnancy women aged 15 and 40 years, without harmful habits and diseases, where between 25-27 gestational week (GW) the prenatal study identifies malformative fetus and the pregnancy is interrupted by medical evidence. The fetopathological examination in the first case identified sirenomelia type I associated with myelomeningocele, hydrocephalus, anal imperforation, single umbilical artery, bilateral renal agenesis, ureteral and bladder agenesis, tracheo-esophageal fistule, agenesis of external genitals, monkey fold of the left palm of the hand - VACTERL-H. In the second case, where genetic testing is normal, sirenomelia type II associated with agenesis of external genitalia, anal imperforation, myelomeningocele, dolichocrania, macroglossia, low set ears, left preauricular skin tag, long philtrum, lung hypoplasia, split cadiac apex, single umbilicalis artery, blind end colon, hepatomegaly, accessory spleen, polycystic horseshoe kidney, uterine and vaginal agenesis, presence of two ovaries and duodenal stenosis - VACTERL association. This two cases, lead us to believe that sirenomelia and the VACTERL association are probably different manifestations of a pathogenetic process leading to disorders of blastogenesis at different levels during embryonic development.


La sirenomelia es una malformación congénita y excepcionalmente rara, con una frecuencia entre 1,5 y 4,2 en un millón de embarazos. La combinación de la sirenomelia con el síndrome de VACTERL es igualmente rara. La literatura especializada informa sobre la existencia de una veintena de casos solamente; en lo que respecta a su asociación con el síndrome de VACTERL-H se conocen solo dos casos. Luego de realizar una revisión de la literatura presentamos dos casos de sirenomelia asociada con los síndromes de VACTERL-H y de VACTERL En el estudio se analizaron los primeros embarazos de dos mujeres, edad de 15 y de 40 años, respectivamente, ambas mujeres completamente sanas y sin hábitos viciosos. Entre la vigésima quinta y la vigésima séptima semana gestacional (SG) del embarazo ambas mujeres, el análisis prenatal comprueba la existencia de malformación del feto debido a lo cual los embarazos fueron interrumpidos por prescripción médica. El análisis fetopatológico del primer caso comprueba la existencia de sirenomelia de tipo I asociada con mielomeningocele, hidrocefalia, atresia anal, arteria umbilical única, agenesia bilateral de los riñones y de los ureteres que transportan la orina desde los riñones hasta la vejiga, fístula traqueoesofágica, agenesia de los órganos genitales externos, línea simiesca en la palma de la mano izquierda - VACTERLH. En el segundo caso, en que el análisis genético ha resultado normal, se observó la presencia de sirenomelia de tipo II asociada con agenesia de los órganos genitales externos, atresia anal, mielomeningocele, dolicocrania, macroglosia, orejas bajas, filtrum alargado, hipoplasia pulmonar, ápice cardíaco escindido, arteria umbilical única, colon terminado en ciego, bazo accesorio, poliquistosis renal, riñón en herradura, agenesia vaginal y de útero, presencia de dos ovarios y estenosis duodenal - VACTERL asociación. Los dos casos investigados permiten llegar a la conclusión de que la sirenomelia y su combinación con el síndrome de VACTERL probablemente sean manifestaciones diferentes de un proceso patogenético que conlleva la alteración de la blastogénesis en distintos niveles durante el proceso del desarrollo embrionario.


Assuntos
Humanos , Feminino , Gravidez , Adolescente , Adulto , Anormalidades Múltiplas , Ectromelia/complicações , Ectromelia/diagnóstico , Doenças Fetais/diagnóstico , Canal Anal/anormalidades , Síndrome , Traqueia/anormalidades , Evolução Fatal , Esôfago/anormalidades , Rim/anormalidades
2.
Arch. argent. pediatr ; 118(3): e288-e291, jun. 2020. ilus
Artigo em Inglês, Espanhol | LILACS, BINACIS | ID: biblio-1116957

RESUMO

El síndrome de Pierson se caracteriza por la presencia de síndrome nefrótico congénito y microcoria bilateral. Genéticamente, este trastorno está ocasionado por mutaciones en el gen LAMB2, que codifica la cadenaß2 de la laminina. Hasta la fecha, en la bibliografía se informaron 98casos y 50mutaciones diferentes. No existen terapias específicas para el síndrome de Pierson, y el tratamiento es complementario. El pronóstico es malo por la disfunción renal progresiva y las complicaciones de la insuficiencia renal. En este artículo, se informa sobre una mutación homocigota novedosa (c.1890G>C [p.Q630H]) en el gen LAMB2 en una paciente con síndrome de Pierson que tenía un fenotipo atípico, como epidermólisis ampollosa.


Pierson syndrome is characterized by congenital nephrotic syndrome and bilateral microcoria. Genetically, mutations in the LAMB2 gene, which encodes the laminin ß2 chain, lead to this disorder. To date, 98 cases and 50 different mutations have been reported in literature. There are no specific therapies for Pierson syndrome and treatment is supportive. The prognosis is poor because of progressive impairment of renal function and complications of renal failure. We report a novel homozygous mutation (c.1890G>T, p.Q630H) in the LAMB2 gene in a patient with Pierson syndrome who had atypical phenotypic feature such as epidermolysis bullosa


Assuntos
Humanos , Feminino , Lactente , Mutação , Síndrome Nefrótica/diagnóstico , Turquia , Epidermólise Bolhosa , Evolução Fatal , Insuficiência Renal
5.
Rev. bras. parasitol. vet ; 28(4): 661-670, Oct.-Dec. 2019. graf
Artigo em Inglês | LILACS | ID: biblio-1057968

RESUMO

Abstract We report the first documented case of endocarditis associated with Bartonella clarridgeiae in a dog in Latin America. Infective vegetative valvular aortic endocarditis was diagnosed in a 10-year-old male mixed breed dog. The dog presented grade V/VI systolic and diastolic murmur, hyperthermia, and progressive weight loss. Cardiomegaly and presence of diffuse alveolar pattern in the lung fields were observed in the thorax radiography evaluation. Irregular and hyperechogenic structures adhered to the aortic leaflets, causing obstruction of the left ventricular outflow tract and severe aortic insufficiency, were observed in the echocardiography evaluation. A vegetative, whitish, hardened structure measuring 1.0 cm in diameter was observed in aortic semilunar valve at necropsy. Based on a combination of pre-enrichment insect-based medium liquid culture, quantitative real-time and conventional PCR assays based on nuoG and gltA genes, respectively, followed by sequencing and phylogenetic inferences, B. clarridgeiae DNA was detected in the patient's aortic valve lesions. Clinical, echocardiographic, anatomopathologic and molecular features supported the diagnosis of severe aortic vegetative endocarditis possibly caused by B. clarridgeiae in a dog in Brazil.


Resumo Relatamos o primeiro caso documentado de endocardite associada à Bartonella clarridgeiae em um cão na América Latina. Endocardite aórtica valvar vegetativa infecciosa foi diagnosticada em um cão sem raça definida de 10 anos de idade. O cão apresentou sopro sistólico e diastólico de grau V / VI, hipertermia e perda progressiva de peso. Cardiomegalia e presença de padrão alveolar difuso nos campos pulmonares foram observados na avaliação radiográfica do tórax. Estruturas irregulares e hiperecogênicas aderidas aos folhetos aórticos, causando obstrução da via de saída do ventrículo esquerdo e insuficiência aórtica grave, foram observadas na avaliação ecocardiográfica. À necropsia, foi observada uma estrutura vegetativa, esbranquiçada e endurecida medindo 1,0 cm de diâmetro na válvula semilunar aórtica. Por meio de uma combinação de cultura líquida baseada em meio de pré-enriquecimento de inseto, ensaios de PCR quantitativa em tempo real e convencional baseados nos genes nuoG e gltA, respectivamente, seguidos de sequenciamento e inferências filogenéticas, DNA de B. clarridgeiae foi detectado no tecido valvular lesionado do paciente. O diagnóstico de endocardite vegetativa aórtica grave, possivelmente causado por B. clarridgeiae em um cão no Brasil, foi apoiado por características clínicas, ecocardiográficas, anatomopatológicas e moleculares.


Assuntos
Animais , Masculino , Cães , Valva Aórtica/microbiologia , Bartonella/genética , Infecções por Bartonella/veterinária , Doenças do Cão/microbiologia , Endocardite/veterinária , Bartonella/classificação , Infecções por Bartonella/diagnóstico , Índice de Gravidade de Doença , Evolução Fatal , Doenças do Cão/diagnóstico , Endocardite/diagnóstico , Endocardite/microbiologia
6.
Autops. Case Rep ; 9(4): e2019113, Oct.-Dec. 2019. ilus
Artigo em Inglês | LILACS | ID: biblio-1024144

RESUMO

Hypertrophic cardiomyopathy used to be regarded as a rare untreatable cause of sudden death in young male athletes. This report is the case of a middle-aged female patient with hereditary hypertrophic cardiomyopathy masked by superimposed pericarditis and revealed by autopsy. This case report illustrates how co-morbidity can hide a crucial diagnosis. This case report also illustrates the value of autopsy disclosing a familial disease that is increasingly recognized and dramatically more treatable than a few decades ago. Sudden death due to hypertrophic cardiomyopathy has become preventable, if the diagnosis is made soon enough. The lessons for patient care from this case include the importance of not missing the diagnosis of hypertrophic cardiomyopathy in female patients.


Assuntos
Humanos , Feminino , Adulto , Cardiomiopatia Hipertrófica Familiar/patologia , Diagnóstico Tardio/prevenção & controle , Pericardite/patologia , Autopsia , Morte Súbita Cardíaca/etiologia , Evolução Fatal
7.
Autops. Case Rep ; 9(4): e2019119, Oct.-Dec. 2019. ilus
Artigo em Inglês | LILACS | ID: biblio-1024159

RESUMO

Congenital acinar dysplasia is a lethal, developmental lung malformation resulting in neonatal respiratory insufficiency. This entity is characterized by pulmonary hypoplasia and arrest in the pseudoglandular stage of development, resulting in the absence of functional gas exchange. The etiology is unknown, but a relationship with the disruption of the TBX4-FGF10 pathway has been described. There are no definitive antenatal diagnostic tests. It is a diagnosis of exclusion from other diffuse embryologic lung abnormalities with identical clinical presentations that are, however, histopathologically distinct.


Assuntos
Humanos , Feminino , Recém-Nascido , Insuficiência Respiratória/etiologia , Pulmão/anormalidades , Pneumopatias/congênito , Autopsia , Evolução Fatal , Pulmão/patologia
8.
Autops. Case Rep ; 9(4): e2019124, Oct.-Dec. 2019. ilus
Artigo em Inglês | LILACS | ID: biblio-1024178

RESUMO

Walker Warburg syndrome (WWS) lies at the severe end of the spectrum of the congenital muscular dystrophies. WWS is a congenital disorder of the O-glycosylation that disrupts in the post-translation modification of dystroglycan proteins. WWS is characterized by the involvement of the central nervous system and rarely by multisystem involvement. Next-generation sequencing discovered that multiple genes are associated with this disorder. FKTN is the rarest cause of WWS. We describe a clinical-autopsy report of a molecularly- confirmed WWS case presenting with ventriculomegaly, agenesis of the corpus callosum with a novel phenotype of Dandy-Walker malformation and unilateral multi-cystic kidney. The whole-exome sequencing confirmed a homozygous variant (c.411C>A) in the FKTN gene with a premature termination codon. This case emphasizes the importance of detailed postnatal phenotyping through an autopsy in any pregnancy with antenatally identified malformations. Obstetricians, pediatricians as well as fetal medicine experts need to counsel the parents and focus on preserving the appropriate sample for genetic testing. WWS, though rare deserves testing especially in the presence of positive family history. Dandy-Walker malformation is a novel feature and expands the phenotypic spectrum.


Assuntos
Humanos , Feminino , Gravidez , Defeitos Congênitos da Glicosilação/patologia , Síndrome de Walker-Warburg/patologia , Hidrocefalia/patologia , Autopsia , Evolução Fatal
9.
Autops. Case Rep ; 9(4): e2019125, Oct.-Dec. 2019. ilus, tab
Artigo em Inglês | LILACS | ID: biblio-1024200

RESUMO

Cardiac rhabdomyoma is a benign tumor which constitutes the most common cardiovascular feature of the tuberous sclerosis complex, a multisystem genetically determined neurocutaneous disorder. Cardiac rhabdomyomas can be detected in the prenatal ultrasound, are usually asymptomatic and spontaneously regress within the first three years of life. Less often, the tumors' size, number, and location can produce a mass effect that may lead to blood flow abnormalities or organ dysfunction (heart failure and arrhythmia). In this setting, severe morbidity, and eventually, a lethal outcome despite clinical and surgical treatment may ensue. We describe a fatal case of multiple cardiac rhabdomyomas in a newborn girl. One of the rhabdomyomas was large and unfavorably located, causing significant obstruction of the left ventricular outflow tract. The autopsy identified, in addition to cardiac rhabdomyomas, brain glioneuronal hamartomas (cortical tubers), subependymal nodules and subependymal giant cell tumors, characteristic of the tuberous sclerosis complex. The newborn's family was investigated for the presence of typical clinical symptoms of the complex and image findings showed significant phenotypical variations and a broad symptom spectrum among the family members. This interesting case underscores the variability of tuberous sclerosis complex and the importance of performing a comprehensive postmortem examination in the identification of the cause of death, especially in the setting of familial disease.


Assuntos
Humanos , Feminino , Recém-Nascido , Rabdomioma/patologia , Esclerose Tuberosa/patologia , Neoplasias Cardíacas , Autopsia , Evolução Fatal , Síndromes Neurocutâneas
10.
Arch. argent. pediatr ; 117(5): 509-513, oct. 2019. tab
Artigo em Espanhol | LILACS, BINACIS | ID: biblio-1054973

RESUMO

La utilización de probióticos en la población neonatal ha contribuido a una disminución de la morbilidad y mortalidad en esta población a través de la reducción en la incidencia de entidades como enterocolitis necrosante, infecciones asociadas al cuidado de la salud y sepsis neonatal. A pesar de los múltiples efectos beneficiosos descritos, este tipo de medicamentos debe ser administrado con precaución en los pacientes de alto riesgo, debido a que se han documentado reportes de casos de sepsis neonatal por Lactobacillus rhamnosus, Saccharomyces boulardii y Bifidobacterium, entre otros. Se presenta un caso atípico de sepsis neonatal por Lactobacillus reuteri en un recién nacido pretérmino extremo en una institución de alta complejidad en la ciudad de Bogotá D. C., Colombia. El desenlace, en nuestro caso, fue fatal, pese al manejo médico establecido.


The use of probiotics in the neonatal population has contributed to a decrease in morbidity and mortality in this population through the reduction in the incidence of entities such as necrotizing enterocolitis, infections associated with health care and neonatal sepsis. Despite the multiple beneficial effects described due to the use of probiotics, this type of medication should be administered with caution in high-risk patients because reports of cases of neonatal sepsis by Lactobacillus rhamnosus, Saccharomyces boulardii and Bifidobacterium, among others, have been documented. We present an atypical case of neonatal sepsis due to Lactobacillus reuteri in an extreme preterm newborn in a highly complex institution in the city of Bogotá D. C., Colombia. The outcome in our case was fatal despite the established medical management.


Assuntos
Humanos , Masculino , Recém-Nascido , Lactobacillus reuteri , Sepse Neonatal , Pré-Eclâmpsia , Evolução Fatal , Probióticos/efeitos adversos , Lactente Extremamente Prematuro
11.
Rev. cuba. pediatr ; 91(3): e486, jul.-set. 2019. tab, graf
Artigo em Espanhol | LILACS, CUMED | ID: biblio-1093718

RESUMO

Introducción: La autopsia es un método que garantiza el estudio más completo del enfermo y la enfermedad y brinda información útil para salvar vidas humanas. Objetivo: Mostrar los principales datos demográficos y administrativos, las causas más frecuentes de muerte y la evaluación de los diagnósticos clínicos en fallecidos en un hospital pediátrico. Métodos: Con la ayuda de un Sistema Automatizado de Registro y Control de Anatomía Patológica, se registraron los datos necesarios de 994 autopsias clínicas pediátricas de 1 830 fallecidos en el Hospital Pediátrico Universitario Juan Manuel Márquez entre 1990 y 2015. Resultados: El índice de autopsias fue 71,0 por ciento, predominó el sexo masculino y el grupo de menores de un año. Las principales causas básicas de muerte fueron los tumores malignos de encéfalo, las leucemias linfoides y sus complicaciones fueron las principales causas directas e intermedias de muerte. La discrepancia diagnóstica pre- y posmortem entre causas básica de muerte fue de 19,1 por ciento y entre causa directa y causa intermedia, de 29,6 por ciento. La infección, cáncer y daño multiorgánico constituyeron los grupos de trastorno de mayor trascendencia que influyeron en la causa básica y directa de muerte. Conclusiones: Los resultados obtenidos demuestran la importancia de la autopsia para confirmar diagnósticos, evaluar la calidad del trabajo médico, entender mejor las causas de muerte y la existencia de una buena comunicación entre médico y patólogo. Una vez más se documenta la utilidad del sistema automatizado utilizado, que permite obtener toda la información computarizada y analizar con precisión las discrepancias diagnósticas(AU)


Introduction: Autopsy is a method that guarantees the most complete study of the patient and the disease, and provides useful information to save human lives. Objective: To show the main demographic and administrative data, the most frequent causes of death and the assessment to clinical diagnoses of deceased in a pediatric hospital. Methods: With the help of an Automated System for the Registration and Control of Pathological Anatomy (SARCAP, by its acronym in Spanish), the main demographic and administrative data in 994 pediatric clinical autopsies of 1 830 patients who died between 1990 and 2015 at Juan Manuel Márquez Pediatric Hospital were recorded. Results: The autopsies rate was 71.0 percent, the male sex prevailed and the group of children under one year. The main causes of death were malignant encephalon tumors, and lymphoid leukemias with complications were the main direct and intermediate causes of death. The pre-and post-mortem diagnostic discrepancy in basic causes of death was of 19.1 percent, and between direct cause of death and intermediate cause of death it was of 29.6 percent. Infection, cancer and multiple organ damage constituted the most important disorder's groups that influenced the basic cause of death and direct cause of death. Conclusions: Autopsy is useful to confirm diagnosis, evaluate the quality of medical work, better understand the causes of death in children, and the existence of a good communication among the physician and the pathologist. It is demonstrated one more time the usefulness of SARCAP, which allows to collect all the computerized data information and to analyze with precision the diagnostic discrepancies(AU)


Assuntos
Autopsia/métodos , Autopsia/normas , Evolução Fatal
12.
Autops. Case Rep ; 9(3): e2019118, July-Sept. 2019. ilus
Artigo em Inglês | LILACS | ID: biblio-1017367

RESUMO

Acute obstruction of superior vena cava anastomosis right after the Glenn procedure may lead to tragic consequences. We describe the case of a one-year-old child with tricuspid atresia and a previous Blalock-Taussig shunt procedure, who presented severe low cardiac output syndrome right after the Glenn procedure and died forty-four hours after the procedure. The autopsy showed obstruction of the superior vena cava anastomosis. Patients that present superior vena cava syndrome and low cardiac output right after the Glenn procedure should have the surgical anastomosis revised immediately.


Assuntos
Humanos , Feminino , Recém-Nascido , Derivação Cardíaca Direita , Técnica de Fontan/efeitos adversos , Cardiopatias Congênitas/patologia , Autopsia , Evolução Fatal , Atresia Tricúspide/complicações , Procedimento de Blalock-Taussig/efeitos adversos
13.
Autops. Case Rep ; 9(3): e2019101, July-Sept. 2019. graf, tab, ilus
Artigo em Inglês | LILACS | ID: biblio-1016808

RESUMO

Familial hemophagocytic lymphohistiocytosis (FHL) is a rare fatal autosomal recessive disorder of immune dysregulation. The disease presents most commonly in the first year of life; however, symptomatic presentation throughout childhood and adulthood has also been identified. Biallelic mutation in the perforin gene is present in 20%­50% of all cases of FHL. Secondary hemophagocytic lymphohistiocytosis (HLH) in association with hematological malignancies is known; however, whether mutations in HLH-associated genes can be associated with FHL and hematolymphoid neoplasms is not well documented. Also, Epstein­Barr-virus- (EBV) positive systemic T-cell lymphoproliferative disease (SE-LPD) in the setting of FHL is not clearly understood. Here, we present the case of a young boy who presented with typical features of childhood FHL harboring the perforin gene (PRF1) mutation, and had SE-LPD diagnosed on autopsy, along with evidence of recent EBV infection. The patient expired due to progressive disease. Five siblings died in the second or third decade of life with undiagnosed disease. Genetic counseling was provided to the two surviving siblings and parents, but they could not afford genetic testing. One surviving sibling has intermittent fever and is on close follow-up for possible bone marrow transplantation.


Assuntos
Humanos , Masculino , Adolescente , Antígenos Nucleares do Vírus Epstein-Barr , Linfo-Histiocitose Hemofagocítica/patologia , Autopsia , Evolução Fatal , Perforina , Linfoma
14.
Autops. Case Rep ; 9(3): e2019106, July-Sept. 2019. ilus
Artigo em Inglês | LILACS | ID: biblio-1016813

RESUMO

Acinetobacter baumannii has emerged as a pan-resistant superbug causing fatal infections in vulnerable patients. This report is the case of an immunosuppressed transplant patient with a fatal pneumonia due to pan-resistant Acinetobacter baumannii. Alternative therapy for resistant Acinetobacter infection is currently the subject of intense interest and research. This report illustrates the features of this type of emerging infectious disease and reviews some of the novel approaches to treatment.


Assuntos
Humanos , Masculino , Pessoa de Meia-Idade , Infecções por Acinetobacter/patologia , Farmacorresistência Bacteriana , Pneumonia/complicações , Autopsia , Infecções por Acinetobacter/terapia , Evolução Fatal
15.
Autops. Case Rep ; 9(3): e2019103, July-Sept. 2019. ilus, tab
Artigo em Inglês | LILACS | ID: biblio-1016864

RESUMO

The effective value of microbiological post-mortem examinations stands as fundamental in forensic cases involving microbiology. We ran these analyses on five victims, who suddenly died after showing persistent fever. The examinations were conducted between 48 hours and 10 days after death, and adrenal gland apoplexy was detected in all the cases. Microbiological examinations identified Neisseria meningitidis, which was accountable for Waterhouse­Friderichsen syndrome. Diplococci were isolated from three cadavers that underwent forensic dissection between 2 and 3 days after death. The remaining two cadavers showed polymicrobial contamination, and a polymerase chain reaction technique was necessary to identify the pathogen. We assumed that the microbial overlap could lead to diagnostic mistakes and conceal the identification of the lethal pathogen. Therefore, we suggest using molecular techniques for a postmortem interval (PMI) longer than 72 hours. Classical microbiological examination should be performed for PMI within 72 hours.


Assuntos
Humanos , Autopsia/métodos , Síndrome de Waterhouse-Friderichsen/patologia , Técnicas Microbiológicas , Evolução Fatal , Neisseria meningitidis
16.
Autops. Case Rep ; 9(3): e2019111, July-Sept. 2019. ilus
Artigo em Inglês | LILACS | ID: biblio-1016910

RESUMO

Pulmonary capillary hemangiomatosis (PCH) is a rare and controversial entity that is known to be a cause of pulmonary hypertension and is microscopically characterized by proliferation of dilated capillary-sized channels along and in the alveolar walls. Clinically, it is mostly seen in adults. Clinical features are characterized by nonspecific findings such as shortness of breath, cough, chest pain, and fatigue. It can be clinically indistinguishable from pre-capillary pulmonary arterial hypertension disorders such as primary pulmonary arterial hypertension (PAH) or chronic thromboembolic pulmonary hypertension. However, the diagnostic distinction, which usually requires a multidisciplinary approach, is crucial in order to avoid inappropriate treatment with vasodilator medications usually used for PAH treatment. Prognosis of PCH remains poor with lung transplant being the only definitive treatment. We report an autopsy case of pulmonary capillary hemangiomatosis unmasked at autopsy that was treated with a prostacyclin analog, usually contraindicated in such patients. We emphasize that this entity should always be on the differential diagnosis in a patient with pulmonary hypertension and requires great vigilance on the part of the clinician, radiologist and pathologist to make the diagnosis and guide appropriate management.


Assuntos
Humanos , Feminino , Idoso , Hemangioma Capilar/diagnóstico , Hemangioma Capilar/patologia , Doença Cardiopulmonar , Autopsia , Pneumopatia Veno-Oclusiva , Evolução Fatal , Diagnóstico Diferencial , Hipertensão Pulmonar
17.
Autops. Case Rep ; 9(3): e2019114, July-Sept. 2019. ilus
Artigo em Inglês | LILACS | ID: biblio-1017352

RESUMO

Diffuse Large B-cell Lymphoma, the most common adult non-Hodgkin lymphoma, is a proliferative neoplasm of enlarged B cells. Patients may be asymptomatic on presentation, but if present, symptoms often correlate with direct organ dysfunction resulting from the site of involvement. While the gastrointestinal system is the most common site of extranodal involvement, virtually any part of the body can be infiltrated by malignant lymphocytes. Here, we present an unusual case of cardiac and bilateral renal involvement by Diffuse Large B-cell Lymphoma in a 78-year-old male with a relatively unremarkable medical history. This combination of organ involvement and the resulting clinical symptoms are uncommonly described in the literature. The patient was treated for his symptoms prior to death, but the underlying cause that explained his presentation was not identified until performance of an autopsy. As such, this case demonstrates the utility of the medical autopsy, a gold standard in diagnostic medicine that can provide a variety of benefits in today's healthcare system.


Assuntos
Humanos , Masculino , Idoso , Arritmias Cardíacas/complicações , Lesão Renal Aguda/complicações , Linfoma/patologia , Autopsia , Evolução Fatal
18.
Autops. Case Rep ; 9(3): e2019100, July-Sept. 2019. ilus
Artigo em Inglês | LILACS | ID: biblio-1017372

RESUMO

Primary splenic angiosarcoma (PSA) is a rare neoplasm of vascular origin associated with aggressive behavior and poor prognosis. The clinical presentation is usually non-specific and is mostly characterized by a wasting disease with anemia and splenomegaly, mimicking a wide range of entities. The authors present the case of an 80-year-old woman with cardiovascular comorbidities with a 6-month history of weight loss, fatigue, weakness, pallor, and abdominal pain. The physical examination showed massive splenomegaly and pallor. After a thorough evaluation that ruled out lymphoproliferative diseases, the working diagnosis was a myelodysplastic disorder. A few days after discharge, she returned to the emergency room with severe abdominal pain, worsening fatigue, and a remarkable pallor. Point-of-care ultrasound showed free intraperitoneal fluid. Spleen rupture was confirmed by abdominal computed tomography (CT) scan, and an emergency laparotomy with splenectomy was performed. The postoperative period was uneventful, and the patient recovered in a few days. The histopathology confirmed the diagnosis of PSA and the patient was referred to an oncological center. Two months later staging CT demonstrated liver and peritoneal metastases, and despite the chemotherapy she died 6 months after the diagnosis.


Assuntos
Humanos , Feminino , Idoso de 80 Anos ou mais , Neoplasias Esplênicas/complicações , Neoplasias Esplênicas/patologia , Hemangiossarcoma/patologia , Ruptura Esplênica/etiologia , Esplenomegalia/complicações , Evolução Fatal
19.
J. bras. nefrol ; 41(3): 440-444, July-Sept. 2019. tab, graf
Artigo em Inglês | LILACS | ID: biblio-1040241

RESUMO

Abstract Hyperkalemia is one of the most common electrolyte disorders, responsible for a high number of adverse outcomes, including life-threatening arrhythmias. Potassium binders are largely prescribed drugs used for hyperkalemia treatment but unfortunately, there are many adverse events associated with its use, mostly gastrointestinal. Identification of patients at highest risk for the serious complications associated with the current potassium binders, such as colon necrosis and perforation, could prevent fatal outcomes. The authors present a case of a 56-year-old man with secondary diabetes and chronic renal disease that was treated for hyperkalemia with Calcium Polystyrene Sulfonate (CPS). He later presented with acute abdomen due to cecum perforation and underwent ileocecal resection but ultimately died from septic shock a week later. During surgery, a solid white mass was isolated in the lumen of the colon. The mass was identified as a CPS bezoar, a rare drug-mass formed in the gastrointestinal tract that contributed to the perforation. A previous history of partial gastrectomy and vagothomy was identified as a probable risk factor for the CPS bezoar development. Hopefully, the two new potassium binders patiromer and (ZS-9) Sodium Zirconium Cyclosilicate will help treat such high-risk patients, in the near future.


Resumo A hipercalemia é um dos distúrbios eletrolíticos mais comuns, responsável por um grande número de desfechos adversos, incluindo arritmias potencialmente fatais. Quelantes de potássio são amplamente prescritos para o tratamento da hipercalemia, mas infelizmente são muitos os eventos adversos associados ao seu uso, em particular os gastrointestinais. A identificação de pacientes com risco mais elevado para complicações graves associadas aos quelantes de potássio atualmente em uso, como necrose e perfuração do cólon, pode evitar desfechos fatais. O presente artigo descreve o caso de um homem de 56 anos com diabetes secundário e doença renal crônica em tratamento por hipercalemia com poliestirenossulfonato de cálcio (PSC). Posteriormente o paciente apresentou abdômen agudo devido a perfuração do ceco e foi submetido a uma ressecção ileocecal, mas acabou indo a óbito por choque séptico uma semana mais tarde. Durante a cirurgia, uma massa branca sólida foi isolada no lúmen do cólon. A massa foi identificada como um bezoar de PSC, uma massa de fármaco de rara ocorrência formada no trato gastrointestinal que contribuiu para a perfuração. História pregressa de gastrectomia parcial e vagotomia foi identificada como provável fator de risco para o desenvolvimento do bezoar de PSC. Espera-se que os dois novos quelantes de potássio - patiromer e ciclossilicato de zircônio sódico - ajudem a tratar pacientes de alto risco em um futuro próximo.


Assuntos
Humanos , Masculino , Pessoa de Meia-Idade , Poliestirenos/uso terapêutico , Bezoares/complicações , Ceco/patologia , Hiperpotassemia/tratamento farmacológico , Perfuração Intestinal/etiologia , Silicatos/uso terapêutico , Evolução Fatal , Diabetes Mellitus/etiologia , Hiperpotassemia/etiologia
20.
Arch. argent. pediatr ; 117(4): 382-386, ago. 2019. ilus
Artigo em Inglês, Espanhol | LILACS, BINACIS | ID: biblio-1054941

RESUMO

La miopatía nemalínica es un trastorno heterogéneo definido por la presencia de estructuras con forma de bastones, conocidas como cuerpos nemalínicos (o bastones de nemalina). El diagnóstico se funda en la debilidad muscular, además de la visualización de cuerpos nemalínicos en la biopsia muscular. La miopatía nemalínica no tiene cura. Las estrategias terapéuticas para este trastorno son sintomáticas y empíricas. En este artículo, presentamos el caso de una recién nacida con insuficiencia respiratoria grave y debilidad muscular generalizada, a la que se le diagnosticó miopatía nemalínica a través de la biopsia muscular. La paciente tuvo una notable disminución de la sialorrea y una mejora de los movimientos espontáneos después del tratamiento con L-tirosina. Este caso se presenta para destacar la importancia de la biopsia muscular en el diagnóstico diferencial de la hipotonía grave durante el período neonatal y el posible beneficio del aporte suplementario de L-tirosina para disminuir la sialorrea y restaurar la fuerza muscular.


Nemaline myopathy (NM) is a heterogeneous disorder defined by the presence of rod-shaped structures known as nemaline bodies or rods. The diagnosis is based on muscle weakness, combined with visualization of nemaline bodies on muscle biopsy. There is no curative treatment for nemaline myopathy. Therapeutic strategies for this condition are symptomatic and empirical. Herein, we present a newborn with severe respiratory failure and generalized muscle weakness, who was diagnosed as NM by muscle biopsy. The patient experienced remarkable decrease in sialorrhea and improvement of spontaneous movements after L-tyrosine treatment. This case is presented to emphasize the importance of muscle biopsy in the differential diagnosis of severe hypotonia during neonatal period and a possible benefit of L-tyrosine supplementation for decreasing sialorrhea and restoring muscle strength.


Assuntos
Humanos , Feminino , Recém-Nascido , Tirosina/uso terapêutico , Miopatias da Nemalina/diagnóstico , Biópsia , Miopatias da Nemalina/terapia , Evolução Fatal , Hipotonia Muscular
SELEÇÃO DE REFERÊNCIAS
DETALHE DA PESQUISA