ABSTRACT
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.
Subject(s)
Optic Neuritis , Papilledema , Visual Acuity , Humans , Optic Neuritis/diagnosis , Female , Diagnosis, Differential , Papilledema/diagnosis , Tomography, Optical Coherence/methods , Adult , Acute Disease , Fluorescein Angiography/methods , Retinal Diseases/diagnosisABSTRACT
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.
Subject(s)
Eyelid Diseases , Histiocytosis, Langerhans-Cell , Humans , Histiocytosis, Langerhans-Cell/pathology , Eyelid Diseases/pathology , Eyelid Diseases/etiology , Male , Diagnosis, Differential , Quality of Life , FemaleABSTRACT
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.
Subject(s)
Choristoma , Colonoscopy , Incidental Findings , Spleen , Humans , Male , Adult , Choristoma/diagnosis , Choristoma/pathology , Diagnosis, Differential , Spleen/pathology , Colonic Neoplasms/diagnosis , Colonic Neoplasms/pathology , Splenosis/diagnosis , Splenosis/pathology , Colonic Diseases/diagnosis , Colonic Diseases/pathology , Endoscopic Ultrasound-Guided Fine Needle AspirationABSTRACT
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.
Subject(s)
Coronary Vessels , Echocardiography , Multimodal Imaging , Humans , Multimodal Imaging/methods , Echocardiography/methods , Dilatation, Pathologic , Coronary Vessels/diagnostic imaging , Male , Tomography, X-Ray Computed/methods , Coronary Artery Disease/diagnostic imaging , Coronary Artery Disease/complications , Middle Aged , Diagnosis, DifferentialABSTRACT
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.
Subject(s)
Amyloidosis , Rheumatic Diseases , Humans , Amyloidosis/diagnosis , Amyloidosis/complications , Rheumatic Diseases/complications , Nephrotic Syndrome/etiology , Rheumatologists , Diagnosis, Differential , Serum Amyloid A ProteinABSTRACT
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.
Subject(s)
Immunoglobulin G4-Related Disease , Meningitis , Neurocysticercosis , Spinal Cord Compression , Humans , Female , Adult , Meningitis/diagnosis , Neurocysticercosis/complications , Neurocysticercosis/diagnosis , Neurocysticercosis/diagnostic imaging , Spinal Cord Compression/etiology , Diagnosis, Differential , Immunoglobulin G4-Related Disease/diagnosis , Immunoglobulin G4-Related Disease/complications , Magnetic Resonance Imaging , Immunoglobulin G/blood , Immunoglobulin G/cerebrospinal fluidABSTRACT
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.
Subject(s)
Humans , Adult , Prealbumin , Amyloidosis, Familial , Diagnosis, DifferentialABSTRACT
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.
Subject(s)
Humans , Male , Aged , Shock, Cardiogenic , Chest Pain , Diagnosis, Differential , Transcatheter Aortic Valve Replacement , Heart Failure , EndocarditisABSTRACT
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.
Subject(s)
Electroencephalography , Epilepsy , Humans , Anticonvulsants/therapeutic use , Diagnosis, Differential , Epilepsy/diagnosis , Epilepsy/drug therapy , Seizures/diagnosisABSTRACT
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.
Subject(s)
Mouth Diseases , Humans , Diagnosis, Differential , Mouth Diseases/diagnosis , Male , Female , Clinical CompetenceABSTRACT
Oral focal mucinosis (OFM) is a rare lesion first described in 1974, but the aetiology remains unknown. Clinically, OFM presents as an asymptomatic nodular lesion and the similarity of clinical features to other soft tissue injuries makes the diagnosis difficult. The aim of this study was to integrate the demographic, clinical, and histopathological characteristics from previously published cases of OFM into a systematic review. Electronic searches without publication date restriction were performed in the following databases: Embase, PubMed, Medline, Web of Science, and Scopus. Case reports or case series of OFM published in English and presenting enough clinical and histopathological information were included. This systematic review identified 42 studies from 12 countries, comprising 113 cases of OFM. This lesion affected more females than males, usually in the fourth decade of life. The gingiva was the most common anatomical location, followed by the palate. Clinical presentation was most often an asymptomatic nodule. Imaging exams revealed that most cases did not have bone involvement. Surgical removal was the treatment of choice for most cases and only one recurrent case was reported. In conclusion, OFM is an uncommon pathology, and its diagnosis depends on histopathological analysis. The lesion could be included as a differential diagnosis of benign soft tissue lesions of the oral cavity, especially those affecting the gingiva.
Subject(s)
Mouth Diseases , Mucinoses , Humans , Diagnosis, Differential , Mouth Diseases/diagnosis , Mouth Diseases/pathology , Mouth Diseases/therapy , Mucinoses/diagnosis , Mucinoses/pathology , Mucinoses/therapyABSTRACT
The diagnosis of pigmented nail lesions is a concern for both general practitioners and dermatologists, due to the possibility of indicating nail melanoma. The origin of the dark pigmentation can be either melanocytic or non-melanocytic (fungi, bacteria, or blood), and clinical evaluation alone may not be sufficient for differentiation, requiring additional exams. Onychoscopy provides valuable information prior to biopsy. The causes of nail pigmentation will be described to aid in the differential diagnosis.
Subject(s)
Melanoma , Nail Diseases , Humans , Diagnosis, Differential , Nail Diseases/pathology , Nail Diseases/diagnosis , Melanoma/diagnosis , Melanoma/pathology , Skin Neoplasms/pathology , Skin Neoplasms/diagnosis , Dermoscopy , Pigmentation Disorders/pathology , Pigmentation Disorders/diagnosis , Nails/pathology , Nails/diagnostic imaging , BiopsyABSTRACT
The multiplex molecular diagnostic assays described for severe acute respiratory syndrome-related coronavirus 2 (SARS-CoV-2), influenza A (IAV) and B (IBV) viruses have been mainly based on real-time reaction, which limits their access to many laboratories or diagnostic institutions. To contribute to available strategies and expand access to differential diagnosis, we describe an end-point multiplex RT-PCR targeting SARS-CoV-2, IAV and IBV with simultaneous endogenous control amplification. Initially, we looked for well-established primers sets for SARS-CoV-2, IAV, IBV and RNAse P whose amplicons could be distinguished on agarose gel. The multiplex assay was then standardized by optimizing the reaction mix and cycle conditions. The limit of detection (LoD) was determined using titrated viruses (for SARS-CoV-2 and IAV) and by dilution from a pool of IBV-positive samples. The diagnostic performance of the multiplex was evaluated by testing samples with different RNAse P and viral loads, previously identified as positive or negative for the target viruses. The amplicons of IAV (146 bp), SARS-CoV-2 (113 bp), IBV (103 bp) and RNAse P (65 bp) were adequately distinguished in our multiplex. The LoD for SARS-CoV-2, IAV and IBV was 0.02 TCID50/ml, 0.07 TCID50/ml and 10-3 from a pool of positive samples, respectively. All samples positive for SARS-CoV-2 (n=70, Ct 17.2-36.9), IAV (n=53, Ct 14-34.9) and IBV (n=12, Ct 23.9-31.9) remained positive in our multiplex assay. RNAse P from negative samples (n=40, Ct 25.2-30.2) was also amplified in the multiplex. Overall, our assay is a timely and alternative tool for detecting SARS-CoV-2 and influenza viruses in laboratories with limited access to supplies/equipment.
Subject(s)
COVID-19 , Influenza A virus , Influenza B virus , Multiplex Polymerase Chain Reaction , Ribonuclease P , SARS-CoV-2 , Humans , Ribonuclease P/genetics , SARS-CoV-2/genetics , SARS-CoV-2/isolation & purification , Influenza A virus/isolation & purification , Influenza A virus/genetics , Influenza B virus/isolation & purification , Influenza B virus/genetics , COVID-19/diagnosis , COVID-19/virology , Multiplex Polymerase Chain Reaction/methods , Diagnosis, Differential , Influenza, Human/diagnosis , Influenza, Human/virology , Sensitivity and Specificity , Reverse Transcriptase Polymerase Chain Reaction/methods , Limit of Detection , RNA, Viral/genetics , RNA, Viral/analysisABSTRACT
Mantle cell lymphoma of the ocular and periorbital regions is extremely rare but should be considered in the differential diagnosis of lesions affecting the periorbital tissues. In this study, we present a rare case of mantle cell lymphoma of the lacrimal sac in a 65-year-old male presenting with a mass in the lacrimal sac region and epiphora. After clinical examinations and imaging studies, the mucocele was misdiagnosed. Considering the unexpected findings during external dacryocystorhinostomy, a frozen biopsy was performed, which confirmed the diagnosis of lymphoma.
Subject(s)
Eye Neoplasms , Lymphoma, Mantle-Cell , Humans , Male , Aged , Lymphoma, Mantle-Cell/pathology , Lymphoma, Mantle-Cell/diagnostic imaging , Biopsy , Eye Neoplasms/pathology , Lacrimal Apparatus Diseases/pathology , Lacrimal Apparatus Diseases/diagnostic imaging , Tomography, X-Ray Computed , Dacryocystorhinostomy/methods , Diagnosis, DifferentialABSTRACT
INTRODUCTION: Arthralgias are prevalent in systemic autoimmune rheumatic diseases (SARD), emphasizing the need for early recognition. This study aimed to estimate SARD frequency and compare clinical, laboratory, and imaging findings among SARD, non-inflammatory arthralgia (NIA), and RA in patients with hand arthralgias. METHODS: A prospective evaluation program included individuals aged ≥18 with hand arthralgias. Baseline assessments covered clinical, laboratory, ultrasound, and radiography. Follow-up diagnoses categorized patients into SARD, NIA, and RA groups. Comparison between groups was performed using parametric and non-parametric tests. Two multivariate logistic regression analyzes were performed using the final diagnosis of SARD as the dependent variable (NIA and RA). ROC curves were calculated in those variables that presented an independent association in the multivariate analysis. RESULTS: Among 1053 patients, 9.6% were SARD (SLE 47%). Comparing SARD with NIA revealed higher CRP levels, power Doppler, less rhizarthrosis in ultrasound, and more ANA positivity in SARD patients. Distinct differences were observed between SARD and RA patients in terms of pain levels, swollen joints, metacarpophalangeal involvement and morning symptoms. Diagnostic markers demonstrated specific sensitivities and specificities: ANA for SARD versus NIA (82%, 34%), US not finding rhizarthrosis for SARD versus NIA (66%, 85%), CRP (cut-off >2.5 mg/L) sensitivity 52%, specificity 60%, AUC 0.62, RA antibodies (RF, 11 IU/mL) sensitivity 76%, specificity 74%, AUC 0.8, ACPA (1.25) sensitivity 50%, specificity 98%, AUC 0.7, ANA+ sensitivity 95%, specificity 32%, AUC 0.7, and US absence of synovitis sensitivity 82%, specificity 34%, AUC 0.75. CONCLUSION: This study highlights distinct clinical, laboratory, and imaging features differentiating SARD-related hand arthralgia from non-SARD hand arthralgia and RA.
Subject(s)
Arthralgia , Autoimmune Diseases , Hand Joints , Predictive Value of Tests , Humans , Male , Female , Middle Aged , Prospective Studies , Arthralgia/diagnosis , Adult , Hand Joints/diagnostic imaging , Autoimmune Diseases/diagnosis , Autoimmune Diseases/epidemiology , Autoimmune Diseases/immunology , Arthritis, Rheumatoid/diagnosis , Arthritis, Rheumatoid/epidemiology , Aged , Diagnosis, Differential , Biomarkers/blood , PrevalenceABSTRACT
Neurosarcoidosis (NS) is a rare subtype of sarcoidosis with a poor prognosis and diverse clinical presentations that often poses a diagnostic and therapeutic challenge. We describe the case of a 53-year-old male with an initial diagnosis of lingual sarcoidosis, who subsequently developed ataxia and rapidly progressive cognitive impairment. A lumbar puncture revealed hypoglycorrhachia, hyperproteinorrachia, lymphocytic pleocytosis, and elevated IL-6 levels (600 pg/ml). Cerebrospinal fluid flow cytometry showed an elevated CD4 lymphocyte concentration and a CD4+/CD8+ ratio of 3.91, indicative of NS. Brain MRI showed hyperintense periventricular and subcortical lesions on FLAIR/T2 resembling progressive multifocal leukoencephalopathy (PML), although negative PCR for JC virus ruled out the differential diagnosis. Following a favorable evolutionary course with corticosteroid pulses, the patient relapsed with normotensive hydrocephalus, treated with immunosuppressants and ventriculoperitoneal shunting with a good response to date. This case underscores the importance of maintaining a high index of suspicion for NS in individuals with sarcoidosis and neurologic symptoms. In these cases, cerebrospinal fluid biomarkers such as IL-6 and CD4+/CD8+ ratio are essential to guide the diagnosis. Furthermore, it highlights that hydrocephalus is a rare complication and requires a multidisciplinary approach, including medical and neurosurgical treatment.
La neurosarcoidosis es un subtipo raro de sarcoidosis con mal pronóstico y diversas presentaciones clínicas que a menudo plantea un reto diagnóstico y terapéutico. Describimos el caso de un varón de 53 años con diagnóstico inicial de sarcoidosis lingual, que posteriormente desarrolló ataxia y deterioro cognitivo de rápida evolución. Una punción lumbar reveló hipoglucorraquia, hiperproteinorraquia, pleocitosis linfocítica y niveles elevados de IL-6 (600 pg/ml). La citometría de flujo del líquido cefalorraquídeo mostró una concentración elevada de linfocitos CD4 y un cociente CD4+/CD8+ de 3.91, indicativo de neurosarcoidosis. La RM cerebral evidenció lesiones hiperintensas periventriculares y subcorticales en FLAIR/T2 que se asemejaban a una leucoencefalopatía multifocal progresiva (LMP), aunque la PCR negativa para el virus JC descartó el diagnóstico diferencial. Tras un curso evolutivo favorable con pulsos de corticoides, el paciente recayó con hidrocefalia normotensiva, tratada con inmunosupresores y derivación ventriculoperitoneal con buena respuesta hasta la fecha. Este caso subraya la importancia de mantener un alto índice de sospecha de neurosarcoidosis en individuos con sarcoidosis y síntomas neurológicos. En estos casos, los biomarcadores del líquido cefalorraquídeo tales como la IL-6 y el cociente CD4+/CD8+ son esenciales para orientar el diagnóstico. Además, destaca que la hidrocefalia es una complicación poco frecuente y requiere un abordaje multidisciplinario, que incluya tratamiento médico y neuroquirúrgico.
Subject(s)
Central Nervous System Diseases , Dementia , Hydrocephalus, Normal Pressure , Sarcoidosis , Humans , Male , Sarcoidosis/complications , Sarcoidosis/diagnosis , Middle Aged , Hydrocephalus, Normal Pressure/diagnosis , Hydrocephalus, Normal Pressure/diagnostic imaging , Central Nervous System Diseases/complications , Dementia/etiology , Magnetic Resonance Imaging , Disease Progression , Diagnosis, DifferentialABSTRACT
OBJECTIVE: Pleural effusion is a common medical problem. It is important to decide whether the pleural fluid is a transudate or an exudate. This study aims to measure the attenuation values of pleural effusions on thorax computed tomography and to investigate the efficacy of this measurement in the diagnostic separation of transudates and exudates. MATERIALS AND METHODS: 380 cases who underwent thoracentesis and thorax computed tomography with pleural effusion were classified as exudates or transudates based on Light's criteria. Attenuation measurements in Hounsfield units were performed through the examination of thorax computed tomography images. RESULTS: 380 patients were enrolled (39 % women), the mean age was 69.9 ± 15.2 years. 125 (33 %) were transudates whereas 255 (67 %) were exudates. The attenuation values of exudates were significantly higher than transudates (15.1 ± 5.1 and 5.0 ± 3.4) (p < 0.001). When the attenuation cut-off was set at ≥ 10 HU, exudates were differentiated from transudates at high efficiency (sensitivity is 89.7 %, specificity is 94.4 %, PPV is 97 %, NPV is 81.9 %). When the cut-off value was accepted as < 6 HU, transudates were differentiated from exudates with 97.2 % specificity. CONCLUSION: The attenuation measurements of pleural fluids can be considered as an efficacious way of differentiating exudative and transudative pleural effusions.
Subject(s)
Exudates and Transudates , Pleural Effusion , Sensitivity and Specificity , Tomography, X-Ray Computed , Humans , Female , Pleural Effusion/diagnostic imaging , Male , Exudates and Transudates/diagnostic imaging , Aged , Diagnosis, Differential , Middle Aged , Tomography, X-Ray Computed/methods , Aged, 80 and over , Thoracentesis/methods , Reproducibility of Results , Reference Values , AdultABSTRACT
Hashimoto's thyroiditis manifesting as hypothyroidism has been implicated in glomerular disorders due to autoantibody formation. Here we present the case of a 26-year-old male without any comorbidities presenting with easy fatiguability and weight gain for 2 months. He was found to have a creatinine of 2.1 mg/dL with a history of rhinitis treated with anti-histaminic three days prior to the hospital visit. He had symptoms of intermittent myalgia for the past two weeks. On laboratory evaluation, he was found to have raised CPK, elevated TSH, low normal T4, and positive anti-TPO and anti-Tg antibodies. Neck ultrasound revealed linear echogenic septations in the thyroid gland. Renal biopsy revealed acute tubular injury. Appropriate thyroxine supplementation was started and his creatinine decreased to 1.2 mg/dL after 1 month. It is important that clinicians should be aware of this rare kidney presentation in Hashimoto's thyroiditis.
Subject(s)
Acute Kidney Injury , Hashimoto Disease , Rhabdomyolysis , Humans , Hashimoto Disease/complications , Hashimoto Disease/diagnosis , Male , Adult , Rhabdomyolysis/diagnosis , Rhabdomyolysis/etiology , Acute Kidney Injury/etiology , Acute Kidney Injury/diagnosis , Diagnosis, DifferentialABSTRACT
Background: the aim of this study is to understand the diagnostic process undertaken by psychiatrists and psychologists regarding adjustment disorder (AD) in their clinical practice and how they differentiate it from major depressive episode (MDE).Methods: A hermeneutic study using grounded theory techniques was carried out. Semi-structured interviews were conducted with twelve psychiatrists and eight psychologists in Colombia, and transcribed verbatim. Initial line-by-line coding was performed, followed by focused and axial coding to construct categories explaining the professionals' reasoning process.Results: The clinical reasoning of professionals regarding AD was understood through four major categories. (1) Difficulty in addressing the experience of stressful events, as there is a risk of pathologizing and medicalizing them. (2) Mental health diagnoses are necessary but not apodictic. (3) The diagnostic category of AD allows for the description of a fluctuating depressive and anxious syndrome occurring in reaction to a stressful event, whose abnormality criteria are based on intersubjective knowledge of the patient's life history and consequential reasoning regarding the need for professional support. (4) The AD label could potentially protect against overdiagnosis of MDE and overuse of antidepressants. Many clinicians in their practice thus subordinate the diagnosis of MDE to ensuring it is not AD, contrary to what is outlined in diagnostic manuals.Conclusion: This study allowed us to understand the clinical reasoning of psychiatrists and psychologists about AD as a diagnosis that inherently indicates the need to work on coping and intervene in the stressor and should be considered as a diagnostic possibility in the same hierarchy as MDE in reactive syndromes, rather than a residual category.
Clinicians use consequential and intersubjective reasoning to diagnose Adjustment Disorder (AD).Systemic pressures lead to overdiagnosis of Major Depressive Episode (MDE) and excessive antidepressant use.AD should be recognized as a valid non-residual diagnostic category.