Diagnóstico diferencial e opções de tratamento da úlcera aftosa recorrente: revisão narrativa da literatura / Differential diagnosis and treatment options of recurrent aphrhous ulcer: narrative literature review

Resumo: A úlcera aftosa recorrente (UAR) é uma lesão frequente na mucosa oral de etiologia variada e subdividindo-se clinicamente úlceras menores, maiores e hepertiformes. Caracterizada por formato ovoide, recoberto por uma pseudomembrana e um halo eritematoso, seu diagnóstico é essencial para distinguir outras lesões e o tratamento se faz necessário para tratar a lesão e prevenir recorrências. Desta maneira, o presente estudo teve como objetivo descrever de forma analítica sobre o diagnóstico diferencial e o tratamento da UAR em cavidade oral. Tratou-se de um estudo descritivo, exploratório caracterizado como revisão narrativa da literatura. Os critérios de inclusão estabelecidos foram: estudos que abordassem essa temática, com idiomas inglês e português. O levantamento ocorreu em agosto/2023 a janeiro/2024, através das buscas eletrônicas PubMed, LILACS, SciELO, além da literatura cinzenta Google acadêmico e busca livre secundária. Os Descritores em Ciências da Saúde (DeCS/MeSH) foram cruzados com o operador booleano: "differential diagnosis" AND "aphthous ulcer". A UAR é caracterizada por úlceras arredondadas superficiais que pode persistir por dias ou meses. O seu diagnóstico é fundamentado no histórico do paciente e nas características da lesão. É crucial eliminar possíveis causas de úlceras orais, para evitar confusão com outras lesões, como úlceras traumáticas, imunomedia das ou até mesmo um carcinoma. Diversas terapias são empregadas no manejo da UAR, tais como corticosteroides, suplementos vitamínicos, ozonioterapia e o laser de baixa potência. Portanto, compreender o histórico das lesões é fundamental para diferenciação e diante da diversidade de terapias, é essencial ter estudos que dê esse enfoque.

Abstract: Recurrent Aphthous Ulcer (RAU) is a common lesion in the oral mucosa with varied etiology, clinically subdivided into minor, major, and herpetiform ulcers. Characterized by an ovoid shape, covered by a pseudomembrane and erythematous halo, its diagnosis is essential to distinguish it from other lesions, and treatment is necessary to address the injury and prevent recurrences. Thus, the present study aimed to analytically describe the differential diagnosis and treatment of RAU in the oral cavity. It was a descriptive, exploratory study characterized as a narrative literature review. Inclusion criteria were established as studies addressing this theme in English and Portuguese. The survey took place from August 2023 to January 2024, through electronic searches on PubMed, LILACS, SciELO, in addition to grey literature such as Google Scholar and secondary free searches. Health Sciences Descriptors (DeCS/MeSH) were crossed with the boolean operator: "differential diagnosis" AND "aphthous ulcer." RAU is characterized by round, superficial ulcers that may persist for days or months. Its diagnosis is based on the patient's history and the characteristics of the lesion. It is crucial to eliminate possible causes of oral ulcers to avoid confusion with other lesions, such as traumatic, immunomediated, or even carcinoma ulcers. Various therapies are employed in the management of RAU, such as corticosteroids, vitamin supplements, ozone therapy, and low-level laser. Therefore, understanding the history of lesions is fundamental for differentiation, and given the diversity of therapies, studies focusing on this aspect are essential.

Revisión sistemática viva de las manifestaciones clínicas de la fiebre de Oropouche: claves para diferenciarla del dengue y otras arbovirosis / Key clinical manifestations to differentiate Oropouche fever from dengue and other arboviral diseases: a living systematic review / Revisão sistemática viva das manifestações clínicas da febre do Oropouche: características-chave para diferenciá-la da dengue e de outras arboviroses

[RESUMEN]. Objetivos. Evaluar la frecuencia de los síntomas en pacientes con oropouche y compararlos con los observados en el dengue y otras arbovirosis. Métodos. Se realizó una revisión sistemática basada en MOOSE y PRISMA; se incluyeron estudios sobre manifestaciones clínicas agudas en pacientes con oropouche. La búsqueda incluyó las bases de datos PubMed, Biblioteca Virtual en Salud, Cochrane Library y Google Scholar hasta septiembre de 2024. Se compararon los síntomas del oropouche con los del dengue y otras arbovirosis, y se valoró la certeza con el enfoque GRADE. Resultados. Se incluyeron 23 estudios con 3 648 pacientes con oropouche. Los síntomas más frecuentes en pacientes con oropouche fueron fiebre (97%) y cefaleas (86%). No hubo diferencias en la frecuencia de fiebre ni cefaleas entre pacientes con oropouche y dengue. Sin embargo, la odinofagia (28%) y el dolor abdominal (15%) fueron más frecuentes en el oropouche que en el dengue (OR 3,20 y 2,50, respectivamente). Las mialgias (69%) y las artralgias (57%) fueron menos frecuentes en los pacientes con oropouche en comparación con el dengue. Conclusiones. La fiebre y las cefaleas son frecuentes en la fiebre de Oropouche, pero no ayudan a diferenciarlo del dengue. En cambio, la odinofagia y el dolor abdominal son más frecuentes en los pacientes con oropouche, mientras que las mialgias, las artralgias y el exantema prevalecen más en el dengue. Estos hallazgos pueden ayudar en el diagnóstico diferencial en áreas de cocirculación arboviral. Se requieren estudios adicionales sobre la recurrencia y la duración de los síntomas para mejorar las estrategias diagnósticas.

[ABSTRACT]. Objectives. To assess the frequency of symptoms in patients with Oropouche fever and compare them with those observed in patients with dengue and other arboviral diseases. Methods. A systematic review was conducted following the MOOSE and PRISMA reporting guidelines. The review included studies on acute clinical manifestations in patients with Oropouche fever. Searches were conducted in PubMed, Virtual Health Library, Cochrane Library, and Google Scholar up to September 2024. The symptoms of Oropouche fever were compared to those of dengue and other arboviral diseases. Certainty of evidence was assessed using the GRADE approach. Results. A total of 23 studies covering 3648 patients with Oropouche fever were included. The most frequent symptoms in patients with Oropouche virus infection were fever (97%) and headache (86%). There was no difference in frequency of fever or headache between patients with Oropouche and dengue. However, odynophagia (28%) and abdominal pain (15%) were more frequent in Oropouche than in dengue, with odds ratios (ORs) of 3.20 and 2.50, respectively. Myalgia (69%) and arthralgia (57%) were less frequent in Oropouche fever than in dengue. Conclusions. Fever and headache are common in Oropouche virus infection, but do not help discriminate it from dengue. However, odynophagia and abdominal pain are more frequent in patients with Oropouche fever, while myalgia, arthralgia, and rash are more prevalent in dengue. These findings may aid in differential diagnosis in areas of arboviral co-circulation. Further studies on the recurrence and duration of symptoms are needed to improve diagnostic strategies.

[RESUMO]. Objetivos. Avaliar a frequência de sintomas em pacientes com febre do Oropouche e compará-los aos observados na dengue e em outras arboviroses. Métodos. Revisão sistemática, com base nas diretrizes MOOSE e PRISMA, incluindo estudos sobre manifestações clínicas agudas em pacientes com febre do Oropouche. A busca incluiu as bases de dados PubMed, Biblioteca Virtual em Saúde, Cochrane Library e Google Scholar e recuperou documentos publicados até setembro de 2024. Os sintomas da febre do Oropouche foram comparados com os da dengue e de outras arboviroses, e a certeza foi avaliada usando a abordagem GRADE. Resultados. Foram incluídos 23 estudos com 3 648 pacientes com a febre do Oropouche. Os sintomas mais frequentes nesses pacientes foram febre (97%) e cefaleia (86%). Não houve diferença na frequência de febre e cefaleia entre os pacientes com febre do Oropouche e com dengue. No entanto, a odinofagia (28%) e a dor abdominal (15%) foram mais frequentes na febre do Oropouche que na dengue (razões de chances de 3,20 e 2,50, respectivamente). Mialgias (69%) e artralgias (57%) foram menos frequentes em pacientes com febre do Oropouche que em pacientes com dengue. Conclusões. Febre e cefaleia são comuns na febre de Oropouche, mas não ajudam a diferenciá-la da dengue. Por outro lado, odinofagia e dor abdominal são mais frequentes nos pacientes com febre do Oropouche, ao passo que mialgia, artralgia e exantema são mais prevalentes na dengue. Esses achados podem ajudar no diagnóstico diferencial em áreas de cocirculação de arbovírus. São necessários mais estudos sobre a recorrência e a duração dos sintomas para aprimorar as estratégias de diagnóstico.

Multimodality imaging of coronary artery dissection: a pictorial essay.

Spontaneous coronary artery dissection (SCAD) is a rare and underdiagnosed entity that can lead to acute coronary syndrome. This condition has a gender predilection, predominantly affecting women, especially those with known risk factors such as pregnancy and the postpartum period. Hormonal changes and hemodynamic stress during these stages significantly contribute to the occurrence of SCAD. Recognizing and understanding this entity, as well as its imaging findings, have a favorable impact on patient prognosis. Accurate diagnosis through imaging techniques such as coronary angiography and computed tomography is crucial for the appropriate management of SCAD, allowing for early and specific interventions that can significantly improve clinical outcomes and reduce associated mortality. Continuous education and awareness about this condition are essential to improve detection rates and effective treatment.

Erythema nodosum as an atypical dermatological manifestation of HTLV-1 infection: A case report and literature review.

Human T-lymphotropic virus 1 (HTLV-1) is the etiological agent of several pathologies, and some of them are not investigated, resulting in a lack of literature that impacts the correct diagnosis. Skin manifestations, such as HTLV-1-associated infectious dermatitis (IDH), are common in patients living with HTLV-1 but could not be the only one. Here, we report for the first time a patient infected with HTLV-1, without previous diagnosis of HTLV-1-related diseases, presenting erythema nodosum (EN). Given the patient's long-term asymptomatic carrier status, the emergence of EN underscores the importance of considering HTLV-1 in the differential diagnosis when encountering EN, especially in endemic regions.

Authors Reply to Letter to the Editor - In Response to: Comment on Bocanegra-Oyola et al.'s "Clinical Characteristics of Ocular Mucous Membrane Pemphigoid: A Systematic Review and Meta-Analysis".

In response to Dr. Kasperkiewicz's commentary on our meta-analysis conducted by Bocanegra-Oyola et al., we fully agree with refining diagnostic processes for ocular pemphigoid, particularly in differentiating it from pseudopemphigoid. We concur that relying solely on clinical findings may result in misdiagnoses. Confirming the diagnosis via biopsy can be challenging, requiring multiple biopsies in some patients, and should always be supported by a multidisciplinary clinical assessment involving ophthalmologists and dermatologists.

Intravascular lymphoma: A diagnostic challenge for a treatable cause of rapidly progressive dementia.

Intravascular large B-cell lymphoma (IVLBCL) is a rare hematological malignancy where its development in the intravascular environment is the main characteristic. Despite its ability to affect multiple organic systems, there is a tropism for the central nervous system, which may be related to several clinical syndromes, making this condition a great mimic and consequently a diagnostic challenge. Rapidly progressive dementia may be one of the presenting phenotypes of IVLBCL. This case report aims to highlight the main red flags, such as sustained elevation of lactate dehydrogenase, organomegaly and specific lesions with vasculitis-like bleeding, all that can be used as clinical clues to direct the differential diagnosis. In addition, it reinforces the role of early brain biopsy in this context, since IVLBCL is a treatable disease.

Evaluation of cervical vestibular miogenic evoked potential and electrococleography in the diagnosis of vestibular migraine.

OBJECTIVES: Vestibular migraine is a neurological disorder characterized by the association of vertigo and headache, affecting up to 1% of the population. Among its differential diagnoses is endolymphatic hydrops. The aim of this study was to investigate the role of cervical vestibular-evoked myogenic potential and electrocochleography in the diagnosis of vestibular migraine. METHOD: Thirteen women with clinical diagnosis of vestibular migraine (mean age 44 years) and 13 healthy volunteers without auditory and/or vestibular complaints matched for sex and age were evaluated by performing hydrops examinations of cervical vestibular-evoked myogenic potential and electrocochleography. RESULTS: The presence of vertigo and headache was reported by all members of the group with vestibular migraine, associated with symptoms such as nausea, photophobia, and phonophobia. Tinnitus was the most frequent auditory complaint. A significant increase in P1 and N1 latencies was observed in the test group. There was no significant difference in the occurrence of asymmetry and decreased amplitude of the cervical vestibular-evoked myogenic potential. Electrocochleography showed an increase in amplitude of the summation potential. The altered SP/AP ratio was double in the group with vestibular migration, without statistical significance. CONCLUSIONS: Changes in latency increase of cervical vestibular-evoked myogenic potential suggests a central lesion. Patients with vestibular migraine may present electrocochleography compatible with endolymphatic hydrops. LEVEL OF EVIDENCE: Level 4.

Spinal cord compression by cystic IgG4-related spinal pachymeningitis mimicking neurocysticercosis: a case report.

BACKGROUND: To report a case of IgG4-related pachymeningitis presenting with cystic lesions mimicking neurocysticercosis. CASE PRESENTATION: A 40-year-old female patient with tetraparesis, dysphagia and dysphonia was evaluated with clinical examination, magnetic resonance imaging, and meningeal biopsy. Magnetic resonance imaging (MRI) revealed diffuse pachymeningeal enhancement involving the cranial, cervical, thoracic, and lumbar segments with spinal cord compression and cystic lesions. CSF immunology was initially positive for cysticercus cellulosae. After disease progression a meningeal biopsy was compatible with IgG4 related disease. The patient had partial response to rituximab and needed multiple surgical procedures for spinal cord decompression and CSF shunting. CONCLUSIONS: This case highlights the possibility of IgG4-related disease in patients with diffuse pachymeningitis causing spinal cord compression, even with cystic lesions on MRI. Diagnosis of IgG4-related pachymeningitis is paramount due to the possibility of treatment response to immunotherapy, particularly to anti-CD20 agents.

[Epilepsy or functional neurological disorder. Diagnostic strategies]. / Epilepsia o trastorno neurológico funcional. Estrategias para el diagnóstico.

A seizure is the manifestation of symptoms or signs produced by excessive or synchronous neuronal activity in the brain. It usually presents as brief, self-limited episodes of involuntary movements that can affect a part or the entire body and that are sometimes accompanied by loss of consciousness and sphincter control. Epilepsy may be considered after a single unprovoked seizure in a patient with a high risk of recurrence. Paroxysmal non-epileptic disorders are defined as episodes of sudden onset and short duration that imitate an epileptic seizure, caused by a brain dysfunction of diverse origin that, unlike epilepsy, is not due to excessive neuronal discharge. Its incidence is much higher than epilepsy and it can appear at any age. It is important for diagnosis to analyze the triggering factors, the details of each episode, physical examination and only proceed to basic complementary tests such as video-electroencephalogram in case of doubt or for diagnostic confirmation. There is a tendency to overdiagnose epilepsy and excessive use of anticonvulsant drugs. Those that can most frequently be confused are syncope, "daydreams" and pseudoseizures.

Una convulsión es la manifestación de signos o síntomas producidos por una actividad neuronal excesiva o sincrónica en el cerebro. Suele presentarse como episodios breves, autolimitados, de movimientos involuntarios que pueden afectar a una parte del cuerpo o su totalidad y que, en ocasiones, se acompañan de pérdida de la conciencia y control de esfínteres. Puede considerarse epilepsia una sola crisis no provocada en un paciente con un elevado riesgo de recurrencia. Los trastornos paroxísticos no epilépticos se definen como episodios de aparición brusca y de breve duración que imitan a una crisis epiléptica, originados por una disfunción cerebral de origen diverso que a diferencia de la epilepsia no obedecen a una descarga neuronal excesiva. Su incidencia es mucho más elevada que la epilepsia y pueden aparecer a cualquier edad. Es importante para el diagnóstico analizar los factores desencadenantes, los pormenores de cada episodio, examen físico y solamente proceder a los exámenes complementarios básicos como video-electroencefalograma en caso de duda o para confirmación diagnóstica. Existe la tendencia a sobrediagnosticar epilepsia y al uso excesivo de fármacos anticonvulsivos. Los que con mayor frecuencia se pueden confundir son los síncopes, ensoñaciones y las pseudocrisis.

Accuracy and consistency of ChatGPT-3.5 and - 4 in providing differential diagnoses in oral and maxillofacial diseases: a comparative diagnostic performance analysis.

OBJECTIVE: To investigate the performance of ChatGPT in the differential diagnosis of oral and maxillofacial diseases. METHODS: Thirty-seven oral and maxillofacial lesions findings were presented to ChatGPT-3.5 and - 4, 18 dental surgeons trained in oral medicine/pathology (OMP), 23 general dental surgeons (DDS), and 16 dental students (DS) for differential diagnosis. Additionally, a group of 15 general dentists was asked to describe 11 cases to ChatGPT versions. The ChatGPT-3.5, -4, and human primary and alternative diagnoses were rated by 2 independent investigators with a 4 Likert-Scale. The consistency of ChatGPT-3.5 and - 4 was evaluated with regenerated inputs. RESULTS: Moderate consistency of outputs was observed for ChatGPT-3.5 and - 4 to provide primary (κ = 0.532 and κ = 0.533 respectively) and alternative (κ = 0.337 and κ = 0.367 respectively) hypotheses. The mean of correct diagnoses was 64.86% for ChatGPT-3.5, 80.18% for ChatGPT-4, 86.64% for OMP, 24.32% for DDS, and 16.67% for DS. The mean correct primary hypothesis rates were 45.95% for ChatGPT-3.5, 61.80% for ChatGPT-4, 82.28% for OMP, 22.72% for DDS, and 15.77% for DS. The mean correct diagnosis rate for ChatGPT-3.5 with standard descriptions was 64.86%, compared to 45.95% with participants' descriptions. For ChatGPT-4, the mean was 80.18% with standard descriptions and 61.80% with participant descriptions. CONCLUSION: ChatGPT-4 demonstrates an accuracy comparable to specialists to provide differential diagnosis for oral and maxillofacial diseases. Consistency of ChatGPT to provide diagnostic hypotheses for oral diseases cases is moderate, representing a weakness for clinical application. The quality of case documentation and descriptions impacts significantly on the performance of ChatGPT. CLINICAL RELEVANCE: General dentists, dental students and specialists in oral medicine and pathology may benefit from ChatGPT-4 as an auxiliary method to define differential diagnosis for oral and maxillofacial lesions, but its accuracy is dependent on precise case descriptions.

Optic disc edema and visual loss from paracentral acute middle maculopathy mimicking optic neuritis.

Optic neuritis is an important cause of unilateral and acute visual loss in young adults, but other differential diagnoses should be considered, especially when the disease has an atypical presentation. This report presents the case of a young woman with reduced visual acuity in her right eye, associated with optic disc edema and a relative afferent pupillary defect, that was initially misdiagnosed as optic neuritis and subsequently found to have paracentral acute middle maculopathy, possibly secondary to subtle impending central retinal vein occlusion. This case emphasizes the need to remember that retinal vascular diseases can occasionally mimic optic neuritis. Detailed anamnesis and ophthalmic examination can avoid unnecessary interventions.

Guardians of the ocular surface: lessons learned from a challenging case of Langerhans cell histiocytosis with eyelid involvement.

Langerhans cell histiocytosis comprises a heterogeneous range of clinical manifestations secondary to clonal proliferation of histiocytes, characterized by the accumulation of these cells in various organs and tissues. The ophthalmological component commonly involved is the orbit. Herein, we report a rare case of Langerhans cell histiocytosis with eyelid involvement, which resulted in severe ocular surface complications, which subsequently significantly impacted the patient's quality of life. This case report highlights the fact that despite being rare, Langerhans cell histiocytosis should be included in the differential diagnosis of eyelid lesions. Furthermore, a multidisciplinary approach with a systemic overview is crucial for managing the ocular complications.

Identification of right coronary artery ectasia with echocardiography and confirmation with multimodal imaging.

We present the case of a patient with myocardial infarction due to coronary ectasia. A transthoracic echocardiogram showed a unique image of a cystic-like mass in the right atrium corresponding to the ectatic right coronary artery (arrows), which was confirmed with computed tomography.

Uncovering the knowledge about systemic amyloidosis relevant to the rheumatologists.

Amyloidosis is a localized or systemic disease caused by deposition of proteins in the extracellular space of various organs and tissues. As part of the disease, proteins that were originally soluble misfold and acquire a fibrillar conformation that renders them insoluble and resistant to proteolysis. Systemic amyloidosis is a rare, often underdiagnosed condition. In recent years, the incidence of newly diagnosed cases of amyloidosis has been increasing in association with the aging of the population and greater access to diagnostic tests. From a clinical perspective, systemic amyloidosis is frequently associated with involvement of the kidneys (causing nephrotic syndrome), heart (cardiac failure and arrhythmia), and peripheral nervous system (sensorimotor polyneuropathy and autonomic dysfunction). This condition is important to the rheumatologist for several reasons, such as its systemic involvement that mimics autoimmune rheumatic diseases, its musculoskeletal manifestations, which when recognized can allow the diagnosis of amyloidosis, and also because reactive or secondary AA amyloidosis is a complication of rheumatic inflammatory diseases. The treatment of amyloidosis depends on the type of amyloid protein involved. Early recognition of this rare disease is fundamental for improved clinical outcomes.

Incidental finding of intramural splenic heterotopy in the colon mimicking subepithelial neoplasm: a case report.

AIM: The aim of this case report is describe an unprecedented case with histological and immunohistochemical diagnosis of splenic heterotopy in the colon using material obtained by endoscopic ultrasound-guided biopsy. BACKGROUND: Splenic heterotopia is a benign condition characterized by the implantation of splenic tissue in areas distant from its usual anatomical site, such as the peritoneum, omentum, mesentery, liver, pancreas, and subcutaneous tissue and, more rarely, in locations such as the colon and brain. It is generally associated with a history of splenic trauma or splenectomy and typically does not cause specific symptoms. CASE PRESENTATION: A 35-year-old white male patient who was healthy, with no history of trauma or splenectomy, but had a family history of colorectal neoplasia underwent colonoscopy for screening. The examination revealed a large bulge in the proximal descending colon, covered by normal-appearing mucosa. Endoscopic ultrasound-guided puncture was performed with a 22 gauge fine needle biopsy, and the histopathological and immunohistochemical analysis results were consistent with a heterotopic spleen. CONCLUSIONS: This is the first report of a primary intramural colic splenosis case with histological and immunohistochemical diagnosis of splenic heterotopia in the colon, using material obtained by endoscopic ultrasound and ultrasound-guided biopsy.

Development and Validation of the Epidemiological Diagnostic Instrument for Temporomandibular Disorders.

BACKGROUND: Temporomandibular disorders (TMD) are a highly misreported health problem. Its diagnosis is complex and requires the use of valid and reliable instruments. OBJECTIVE: To develop and validate the Epidemiological Diagnostic Instrument for TMD (EDI/TMD). METHODS: Content validity (CV), response process (RP), construct validity (EFA), reliability (inter and intraobserver consistency), and convergence validity of the EDI/TMD were assessed and compared to the Diagnostic Criteria for TMD (DC/TMD). RESULTS: An instrument composed of a 9-question questionnaire and a 12-step clinical protocol was developed. CV analysis reduced the instrument to a 5-question and 7-step clinical protocol (CVI = 0.93). Some instructions were included after the RP. The EFA found three factors: myogenous TMD, arthrogenous TMD, and differential diagnosis. The reliability scores ranged from substantial to excellent. When compared to the DC/TMD, the EDI/TMD total score indicated that this instrument is valid and provides satisfactory diagnostic criteria (Kappa = 0.906; p < 0.001), and can distinguish non-TMD and TMD individuals, with a cut-off point of 4.9 (Sensitivity = 1.0; Specificity = 1.0; AUC = 1.0). For individuals who had both myogenous and arthrogenous TMD, the cut-off point was 14 or higher (Sensitivity = 0.8; Specificity = 1.0; AUC = 0.987). For individuals who had either myogenous TMD (Sensitivity = 1.0; Specificity = 0.88; PPV = 0.89; NPV = 1.0) or arthrogenous TMD (Sensitivity = 0.95; Specificity = 0.87; PPV = 0.83; NPV = 0.96), the cut-off point was between 5 and 13.9, with the highest EFA score being the determinant factor for final diagnosis. CONCLUSION: Based on its psychometric properties, the EDI/TMD is a valid and reliable assessment tool that is capable of diagnosing TMD and classifying its subtypes.

Auriculotemporal neuralgia overlapped with chronic orofacial myofascial pain: A case report of a challenging diagnosis.

AIM: Auriculotemporal neuralgia (AN) is a rare condition characterized by severe, stabbing, unilateral pain inadequately described in the literature. Often coexisting with other conditions sharing the same innervation, and this overlap complicates clinical interpretation, leading to diagnostic errors and inappropriate therapeutic choices. The absence of AN in headache and facial pain diagnostic criteria hampers access to crucial information for diagnostic reasoning.Thus, we aimed to report a case of AN overlapped with another orofacial pain condition. METHOD AND RESULT: We present a case of overlap between chronic orofacial myofascial pain (MP) and AN, where conservative MP treatment did not provide the patient with complete pain relief. After diagnosing AN, a single anesthetic block induced complete pain remission over a 2-year follow-up. CONCLUSION: These findings support reintroducing AN into diagnostic criteria, aiding clinicians in diagnostic reasoning, and preventing unnecessary interventions.

Amiloidose por transtirretina na segunda década de vida: um raro diagnóstico diferencial em jovens / Transthyretin amyloidosis in the second decade of life: a rare differential diagnosis in young people

INTRODUÇÃO: Sendo p.V50M e p.V142I as variantes mais comuns associadas à amiloidose por transtirretina hereditária (ATTRh), pode haver uma errônea correlação de que a doença se manifeste apenas em idosos já que a apresentação clínica em seus portadores geralmente se inicia tardiamente, em meia idade e acima de 60 anos, respectivamente. Entretanto, existem outras variantes que podem determinar quadro clínico mais grave e precoce. Descrevemos uma série de casos com início em idade inferior a 25 anos associados à identificação de variante rara no gene TTR. MÉTODOS: Estudo observacional de série de casos RESULTADOS: Três pacientes (p) masculinos, aparentados, portadores de ATTRh confirmada por teste molecular positivo para a variante patogênica p.F64S, com idade média de apresentação clínica de 19±3 anos. Características basais dos p expressas na tabela 1. Todos os p apresentavam fenótipo misto, sendo portadores de polineuropatia grave, disautonomia (expressa por disfunção erétil, hipotensão e alterações digestivas) e cardiopatia em graus variáveis, mais evidente no p com instalação da doença há mais tempo. Espessura média do septo de 15,6±4 mm e de 13±3 mm, da parede posterior. Um p apresentou derrame pericárdico volumoso recorrente. Nenhum óbito ocorreu durante o seguimento. Todos os p receberam tratamento específico para amiloidose: o caso índice foi submetido a transplante hepático, outro está recebendo um silenciador gênico (eplontersen em protocolo clínico) e, o último, em uso de tafamidis 20mg. DISCUSSÃO E CONCLUSÃO: descrevemos 3 p aparentados, que apresentaram os primeiros sintomas de ATTRh aos 20 anos de idade com fenótipo misto (polineuropatia e cardiopatia), determinada pela variante p.F64S. Esta variante é muito rara e encontramos 7 casos descritos na Literatura, todos muito jovens que apresentaram fenótipo predominante de polineuropatia, mas a maioria com cardiopatia associada. A variante p.V50M também pode ocorrer em jovens na forma precoce da doença, porém isto ocorre em torno da terceira década de vida. Conclui-se que a amiloidose não deve ser encarada como uma doença exclusiva da população idosa. A forma hereditária pode ocorrer em p mais jovens e a idade de início do quadro dependerá da variante encontrada. Deve-se, portanto, considerar amiloidose como diagnóstico diferencial das hipertrofias ventriculares em jovens.

A importância do diagnóstico diferencial de endocardite infecciosa e fratura de folheto em paciente submetido a valve in valve aórtico / The importance of differential diagnosis of infective endocarditis and leaflet fracture in a patient undergoing aortic valve in valve replacement

INTRODUÇÃO: Os sinais de alarme de disfunção de bioprótese como espessamento de folhetos, aumento de gradientes transprotéticos, redução do orifício efetivo de fluxo (OEF) e início de sintomas de insuficiência cardíaca podem ser comuns entre as diversas etiologias de deterioração protética. Diagnóstico diferencial entre endocardite infecciosa (EI) e disfunção estrutural é de suma importância para a escolha do tratamento. RELATO DE CASO: Homem de 75 anos, com antecedente de troca valvar aórtica por bioprótese nº 23 e revascularização miocárdica em 2008, deu entrada no Pronto-Socorro por quadro de dor torácica, dispneia aos moderados esforços e ortopneia. Realizada estratificação invasiva e descartada síndrome coronariana aguda.Em ecocardiograma transtorácico (ETT) evidenciada bioprótese aórtica com folhetos espessados, mobilidade e abertura reduzidas e imagem sugestiva de ruptura de um dos seus folhetos, gerando refluxo importante, com gradiente sistólico médio (GSM) 32mmHg, OEF 1,4cm², além de disfunção biventricular importante. Diagnosticado disfunção estrutural por fratura de folheto relacionado ao seio de valsalva direito e indicada cirurgia de troca valvar. Todavia, após complementação com ecocardiograma transesofágico (ETE) visualizada imagem adicional ecogênica medindo 7x4mm relacionado ao folheto do seio coronariano esquerdo podendo corresponder a vegetação. Desse modo, tornou-se imperativo descartar EI como outro componente da disfunção, sendo coletadas hemoculturas com resultados negativos. Na ausência de sinais e sintomas infecciosos, foi descartada infecção. Paciente evoluiu com choque cardiogênico (EUROSCORE II de 40,7%), diante da gravidade optado por intervenção percutânea (Valve-in-Valve). Em indução anestésica, paciente apresentou parada cardiorrespiratória em assistolia, sendo revertida após 4 minutos. Implantada prótese Evolut R de tamanho nº23, com acompanhamento intraoperatório por meio de ETE, ao término, visto endoprótese bem posicionada, sem evidências de refluxo, GSM de 10mmHg e OEF de 2cm². Paciente evoluiu com melhora clínica substancial e recebeu alta em boas condições. CONCLUSÃO: O caso destaca a complexidade diagnóstica e terapêutica da disfunção de bioprótese valvar, ilustrando a importância do diagnóstico diferencial entre disfunção estrutural e EI. O descarte infeccioso é imprescindível para realização do Valve-in-Valve. Neste caso, foi a rápida implementação do procedimento que possibilitou desfechos favoráveis ao paciente.