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Despite the rising prevalence and incidence of eosinophilic esophagitis (EoE), the etiology and pathophysiology remain unknown. Studies to date suggest that complex interactions between genetic and environmental risk factors result in the development and presentation of disease. Examining environmental factors both in the early life and later life exposures offers potential clues for the development of EoE, although challenges exist in making causal inferences due to diagnostic delay and access, ascertainment biases, and misclassification of cases. The authors review studies supporting early life factors as etiologic factors in the development of EoE.
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Esofagitis Eosinofílica , Humanos , Esofagitis Eosinofílica/diagnóstico , Esofagitis Eosinofílica/epidemiología , Esofagitis Eosinofílica/etiología , Diagnóstico Tardío/efectos adversos , Factores de Riesgo , Prevalencia , IncidenciaRESUMEN
Importance: Delayed diagnosis of a dislocated hip in infants can lead to complex childhood surgery, interruption to family life, and premature osteoarthritis. Objective: To evaluate the diagnostic accuracy of clinical examination in identifying dislocated hips in infants. Data Sources: Systematic search of CINAHL, Embase, MEDLINE, and the Cochrane Library from the inception of each database until October 31, 2023. Study Selection: The 9 included studies reported the diagnostic accuracy of the clinical examination (index test) in infants aged 3 months or younger and a diagnostic hip ultrasound (reference test). The Graf method of ultrasound assessment was used to classify hip abnormalities. Data Extraction and Synthesis: The Rational Clinical Examination scale was used to assign levels of evidence and the Quality Assessment of Diagnostic Accuracy Studies tool was used to assess bias. Data were extracted using the individual hip as the unit of analysis; the data were pooled when the clinical examinations were evaluated by 3 or more of the included studies. Main Outcomes and Measures: Sensitivity, specificity, and likelihood ratios (LRs) of identifying a dislocated hip were calculated. Results: Among infants screened with a clinical examination and a diagnostic ultrasound in 5 studies, the prevalence of a dislocated hip (n = 37â¯859 hips) was 0.94% (95% CI, 0.28%-2.0%). There were 8 studies (n = 44â¯827 hips) that evaluated use of the Barlow maneuver and the Ortolani maneuver (dislocate and relocate an unstable hip); the maneuvers had a sensitivity of 46% (95% CI, 26%-67%), a specificity of 99.1% (95% CI, 97.9%-99.6%), a positive LR of 52 (95% CI, 21-127), and a negative LR of 0.55 (95% CI, 0.37-0.82). There were 3 studies (n = 22â¯472 hips) that evaluated limited hip abduction and had a sensitivity of 13% (95% CI, 3.3%-37%), a specificity of 97% (95% CI, 87%-99%), a positive LR of 3.6 (95% CI, 0.72-18), and a negative LR of 0.91 (95% CI, 0.76-1.1). One study (n = 13â¯096 hips) evaluated a clicking sound and had a sensitivity of 13% (95% CI, 6.4%-21%), a specificity of 92% (95% CI, 92%-93%), a positive LR of 1.6 (95% CI, 0.91-2.8), and a negative LR of 0.95 (95% CI, 0.88-1.0). Conclusions and Relevance: In studies in which all infant hips were screened for developmental dysplasia of the hip, the prevalence of a dislocated hip was 0.94%. A positive LR for the Barlow and Ortolani maneuvers was the finding most associated with an increased likelihood of a dislocated hip. Limited hip abduction or a clicking sound had no clear diagnostic utility.
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Diagnóstico Tardío , Luxación Congénita de la Cadera , Femenino , Humanos , Lactante , Masculino , Diagnóstico Tardío/efectos adversos , Luxación Congénita de la Cadera/clasificación , Luxación Congénita de la Cadera/diagnóstico , Luxación Congénita de la Cadera/diagnóstico por imagen , Luxación Congénita de la Cadera/epidemiología , Articulación de la Cadera/anomalías , Articulación de la Cadera/diagnóstico por imagen , Examen Físico , Sensibilidad y Especificidad , Ultrasonografía , Reproducibilidad de los Resultados , Recién Nacido , PrevalenciaRESUMEN
OBJECTIVE: Catatonia is a distinct and severe medical syndrome comprising motor, somatic, and psychiatric symptoms that is reported in upwards of 17% of young patients with autism spectrum disorders. Clinical experience indicates catatonia is often under-recognized in this clinical population. Here we characterize the clinical presentation of catatonia in patients with and without neurodevelopmental disorders (NDDs) including autism, including the time from symptom onset to diagnosis of catatonia. METHOD: Retrospective chart review of electronic medical records at a large, academic pediatric medical center identified 113 pediatric and young adult patients with a charted history of catatonia, as identified by an encounter diagnosis or problem list entry between September 2017 and September 2021. Workup, treatments, and diagnoses (psychiatric, neurodevelopmental, and genetic) were identified. RESULTS: We observed a clear and substantial delay in identification of catatonia in those with NDDs (diagnosis after 330 days for those without psychosis) compared with neurotypical patients (â¼16 days). Psychiatry involvement was associated with shorter delays. CONCLUSION: Intellectual disability and autism are risk factors for significantly delayed diagnosis of catatonia. It is unknown whether delayed diagnosis contributes to the difficulty in treating catatonia in this patient population or whether the treatment difficulties relate instead to differential and ongoing biological mechanisms and underlying encephalopathy. Overall, these findings highlight the importance of increased recognition of catatonia symptoms in patients with NDDs and suggest early referral to psychiatric specialists may shorten the delay to diagnosis.
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Trastorno del Espectro Autista , Catatonia , Discapacidad Intelectual , Trastornos del Neurodesarrollo , Adulto Joven , Humanos , Niño , Catatonia/diagnóstico , Catatonia/etiología , Trastorno del Espectro Autista/terapia , Discapacidad Intelectual/diagnóstico , Estudios Retrospectivos , Diagnóstico Tardío/efectos adversos , Factores de RiesgoRESUMEN
OBJECTIVES: To examine the prevalence of extra-musculoskeletal manifestations (EMM) and the association between diagnostic delay and their incidence in AS and PsA. METHODS: This was a retrospective, cohort study comprising two single centre cohorts in Europe and one multicentre cohort in Latin America (RESPONDIA). Crude prevalence of EMMs (uveitis, IBD and psoriasis) was calculated across geographic area and adjusted by direct standardization. Cox proportional hazard analysis was performed to assess the association between diagnostic delay and EMM incidence. RESULTS: Of 3553 patients, 2097 had AS and 1456 had PsA. The overall prevalence of uveitis was 22.9% (95% CI: 21.1, 24.8) in AS and 3.8% (95% CI: 2.9, 5.0) in PsA; 8.1% (95% CI: 7.0, 9.4) and 2.1% (1.3, 2.9), respectively, for IBD; and 11.0% (95% CI: 9.7, 12.4) and 94.6% (93.0, 95.9), respectively, for psoriasis. The EMM often presented before the arthritis (uveitis 45.1% and 33.3%, and IBD 37.4% and 70%, in AS and PsA, respectively). In the multivariable model, longer diagnostic delay (≥5 years) associated with more uveitis (hazard ratio [HR] 4.01; 95% CI: 3.23, 4.07) and IBD events (HR 1.85; 95% CI: 1.28, 2.67) in AS. Diagnostic delay was not significantly associated with uveitis (HR 1.57; 95% CI: 0.69, 3.59) or IBD events (HR 1.59; 95% CI: 0.39, 6.37) in PsA. CONCLUSION: EMMs are more prevalent in AS than PsA and often present before the onset of the articular disease. A longer diagnostic delay is associated with the 'de novo' appearance of uveitis and IBD in AS, highlighting the need to enhance diagnostic strategies to shorten the time from first symptom to diagnosis in SpA.
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Artritis Psoriásica , Enfermedades Inflamatorias del Intestino , Psoriasis , Uveítis , Humanos , Diagnóstico Tardío/efectos adversos , Estudios Retrospectivos , Estudios de Cohortes , Artritis Psoriásica/complicaciones , Uveítis/diagnóstico , Uveítis/epidemiología , Uveítis/etiología , Enfermedades Inflamatorias del Intestino/complicaciones , Enfermedades Inflamatorias del Intestino/diagnóstico , Enfermedades Inflamatorias del Intestino/epidemiología , Psoriasis/epidemiología , PrevalenciaRESUMEN
BACKGROUND: Primary aldosteronism (PA) is a common but underdiagnosed cause of hypertension. Many patients experience preventable end-organ injury due to delayed or missed diagnosis but data on the experience of patients are limited. METHODS: We evaluated the lived experience of PA and determines factors associated with diagnostic delay through an international anonymous online cross-sectional survey, codesigned by researchers and PA consumers. We distributed the survey through academic medical centers, Amazon Mechanical Turk, Twitter, PA patient advocacy groups, and hypertension support groups on Facebook between March 21 and June 5, 2022. RESULTS: Of 684 eligible respondents, 66.5% were women. Diagnostic delay (defined as ≥5 years between the diagnosis of hypertension and PA) was reported in 35.6%. Delay was more likely in women than in men (odds ratio, 1.55 [95% CI, 1.10-2.20]) and respondents with ≥3 comorbidities versus none (odds ratio, 1.77 [95% CI, 1.05-3.02]), ≥10 symptoms versus none (odds ratio, 2.73 [95% CI, 1.74-4.44]), and on ≥4 antihypertensive medications versus none (odds ratio, 18.23 [95% CI, 6.24-77.72]). Three-quarters of patients (74.4%) experienced reduced symptom burden following targeted PA treatment. Quality of life improved in 62.3% of patients, and greater improvement was associated with being a woman (odds ratio, 1.42, [95% CI, 1.02-1.97]), receiving adrenalectomy (odds ratio, 2.36 [95% CI, 1.67-3.35]), and taking fewer antihypertensive medications following diagnosis (odds ratio, 5.28 [95% CI, 3.55-7.90]). CONCLUSIONS: One-third of patients with PA experienced prolonged diagnostic delays. Targeted treatment led to reduced symptom burden and improved quality of life. Gender differences in diagnostic delay and symptom burden are prominent. These findings suggest that routine screening for PA at the onset of hypertension may reduce diagnostic delay and facilitate timely diagnosis.
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Hiperaldosteronismo , Hipertensión , Masculino , Humanos , Femenino , Diagnóstico Tardío/efectos adversos , Hiperaldosteronismo/cirugía , Antihipertensivos/uso terapéutico , Aldosterona , Calidad de Vida , Estudios Transversales , Hipertensión/diagnóstico , Hipertensión/etiología , Hipertensión/tratamiento farmacológico , Adrenalectomía/efectos adversos , Costo de Enfermedad , ReninaRESUMEN
BACKGROUND: Lipedema is a chronic disease marked by symmetric enlargement of painful nodular and fibrotic adipose tissue, predominantly affecting the limbs. Since there is no specific test or biomarker for this condition, years often pass before the diagnosis of lipedema is established for the first time, thereby causing psychosocial distress, including depression, eating disorders, and social isolation. Over the last few years several advanced Doppler-based technologies have been developed to visualize slow flow blood vessels and superficial microvascular architecture undetectable by traditional color Doppler flow imaging (CDFI). OBJECTIVE: The aim of this study was to evaluate the superficial microvascular anatomy in lipedema patients compared to healthy controls and investigate the clinical significance of the Ultra Micro Angiography (UMA) technology in the diagnosis of lipedema. This new technique may contribute to reduce the diagnostic delay and, eventually, establish and guide treatment strategies toward a better therapeutic outcome in lipedema patients. METHODS: 25 patients with lipedema and ten healthy controls with no history of lipedema were included in this study. All ultrasound examinations were performed on a novel high-performance ultrasound system (Resona R9/Mindray) using CDFI and the UMA technique. RESULTS: In all of the patients, Ultra Micro Angiography achieved the excellent visualization of microvascular structures, revealing that most lipedema patients showed grade 3 (nâ=â13) or grade 2 (nâ=â8) flow. UMA was superior to CDFI for depicting the microvascular structures. CONCLUSIONS: Here we show that UMA imaging characterizes the subcutaneous microvasculature with an unprecedented accuracy. The method has the advantage of being sensitive to small, slow-flowing vessels. This allows for the assessment of the course of vessels and vascular pathologies in great detail. Thus, UMA as a non-invasive diagnostic method can improve diagnostic accuracy in lipedema.
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Lipedema , Humanos , Lipedema/diagnóstico por imagen , Lipedema/patología , Diagnóstico Tardío/efectos adversos , Ultrasonografía/métodos , Dolor , FibrosisRESUMEN
INTRODUCTION: Inborn errors of immunity (IEIs) are inherited disorders that present with increased susceptibility to infections as well as noninfectious complications. Due to the aberrant immune functions of patients with IEI, autoimmune cytopenia (AIC) may be the initial finding, which makes diagnosis a challenge. We aimed to evaluate the clinical course, laboratory findings, and treatment response of AIC in children with IEI. METHODS: Data of children with autoimmune hemolytic anemia (AIHA) and/or immune thrombocytopenic purpura (ITP) were obtained from a retrospective chart review of IEI patients diagnosed and followed in our center. Demographic and clinical features and therapeutic outcomes were evaluated. Immunologic findings were compared between patients with AIHA, ITP, and Evans syndrome (ES). The patients were also divided into two subgroups based on the presence or absence of immune dysregulation diseases (IDDs), and all data were compared between these two groups. RESULTS: Out of 562 patients with IEI, 6% (n: 34) had AIC which were ITP (23.5%), AIHA (35.5%), and ES (41.2%). AIC was the initial finding in 50% of these 34 patients. Patients with ES had a higher mean percentage of CD8+ T lymphocytes than ITP patients (40.77 ± 20.21% vs. 22.33 ± 12.48%, p = 0.011). Patients with IDDs were more likely to develop ES (p = 0.004), lymphoproliferation (p = 0.005), and resistance to first-line therapy (p = 0.021) than other IEI groups. CONCLUSION: This study shows that AIC may be the initial finding of IEI, particularly when lymphoproliferation and resistance to first-line therapy co-occur. Therefore, detailed investigation should be offered to all patients to avoid diagnostic delay.
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Anemia Hemolítica Autoinmune , Citopenia , Púrpura Trombocitopénica Idiopática , Trombocitopenia , Niño , Humanos , Estudios Retrospectivos , Diagnóstico Tardío/efectos adversos , Anemia Hemolítica Autoinmune/diagnóstico , Anemia Hemolítica Autoinmune/tratamiento farmacológico , Anemia Hemolítica Autoinmune/etiología , Púrpura Trombocitopénica Idiopática/diagnóstico , Púrpura Trombocitopénica Idiopática/tratamiento farmacológicoRESUMEN
Tumor-induced osteomalacia (TIO) is an ultra-rare disease caused mostly by benign tumors that secrete fibroblast growth factor-23. Because of nonspecific symptoms, the diagnostic delay is long, and therapy can be challenging. Moreover, epidemiological data on TIO are scarce owing to its rarity. Therefore, this study aimed to quantify TIO's incidence rates and prevalence in Germany. Retrospective longitudinal and cross-sectional analyses were conducted using anonymized German claims data from the statutory health insurance (SHI) database. This database, which comprises the data of approximately 5 million insurants, is a representative sample of the German population and supports national projections. As there is no unique International Statistical Classification of Diseases and Related Health Problems (ICD) code for TIO, operational categories based on different surrogates were defined to determine the prevalence and incidence rates of TIO among probable patients. This study showed that TIO has a prevalence of (documented code, advanced imaging, medication, or tumor removal) 0.187 per 100,000 persons and an incidence rate of ≤ 0.094 per 100,000 person years. This analysis provides the first epidemiological insight into German patients with TIO. Despite the general limitations associated with the analysis of SHI claims data of ultra-rare diseases, we believe that this analysis provides a sound basis for further analysis, particularly with regard to the care situation of patients with TIO.
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Diagnóstico Tardío , Osteomalacia , Humanos , Estudios Retrospectivos , Estudios Transversales , Diagnóstico Tardío/efectos adversos , Osteomalacia/epidemiología , Osteomalacia/etiología , Alemania/epidemiologíaRESUMEN
The 1st line treatment of Cushing's syndrome is surgery, whatever the aetiology. The role of pharmacological treatment is clear in cases where surgery fails or is impossible, in cases of metastases, or while awaiting the delayed effects of radiotherapy. However, certain situations remain controversial, in particular the possible role of pharmacological treatment as a preparation for surgery. This situation must be divided into 2 parts, severe hypercortisolism with immediate vital risk and non-severe hypercortisolism with diagnostic delay. The initiation and adjustment of treatment doses is also controversial, with the possibility of titration by gradual dose increase based on biological markers, or a more radical "block and replace" approach in which the ultimate goal is to achieve hypocortisolism, which can then be supplemented. Each of these approaches has its advantages and drawbacks and should probably be reserved for different patient profiles depending on the severity of hypercortisolism. In this review, we will focus specifically on these 2 points, namely the potential role of preoperative pharmacological treatment and, more generally, the optimal way to initiate and monitor drug treatment to ensure that eucortisolism or hypocortisolism is achieved. We will define for each part which profiles of patients should be the most adapted to try to give advice on the optimal management of patients with hypercortisolism.
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Síndrome de Cushing , Enfermedades del Sistema Endocrino , Humanos , Síndrome de Cushing/tratamiento farmacológico , Síndrome de Cushing/diagnóstico , Síndrome de Cushing/etiología , Diagnóstico Tardío/efectos adversos , HidrocortisonaRESUMEN
BACKGROUND: Acquired angioedema with C1-inhibitor deficiency (AAE-C1-INH) is a rare condition resembling hereditary angioedema (HAE), but with late onset and low C1-inhibitor (C1-INH) due to consumption potentially caused by autoimmune diseases and mainly lymphatic malignancies. Being about 10-fold rarer than HAE, there is limited knowledge and no licensed therapy. OBJECTIVE: To report clinical and biological data from a newly described population of 20 patients with AAE-C1-INH assessing diagnostic delay, AAE-C1-INH:HAE-ratio, underlying conditions, and therapeutic management in Germany. METHODS: Retrospective data analysis of 20 patients from 2 angioedema centers in southern Germany. RESULTS: Median age at symptoms' onset was 64 years (60% females), with predominant swellings of the face (85%) and low levels for C1-INH in almost all patients. The ratio AAE-C1-INH:HAE was 1:9.7. From symptoms' onset to diagnosis of AAE-C1-INH, the median delay was 7.5 months, and between AAE-C1-INH symptoms' onset and diagnosis of the underlying hematological condition (n = 9) it was 4 months (median). Four patients had a history of solid neoplasm, 1 had a papillary thyroid carcinoma as the only potential cause for AAE-C1-INH, with treatment of the malignancy resulting in resolution of AAE-C1-INH. All the symptomatic patients were treated with off-label on-demand icatibant subcutaneously or C1-INH concentrate intravenously, and 6 severely affected patients needed off-label long-term prophylaxis with good symptom control. CONCLUSIONS: AAE-C1-INH is characterized by late-onset swellings mainly involving the face and low C1-INH levels. Diagnostic delay for AAE-C1-INH is further decreasing despite being about 10-fold rarer than HAE. Patients severely affected without underlying condition or no indication for treatment could benefit from off-label therapy.
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Angioedema , Angioedemas Hereditarios , Femenino , Humanos , Masculino , Persona de Mediana Edad , Angioedema/tratamiento farmacológico , Angioedemas Hereditarios/diagnóstico , Angioedemas Hereditarios/tratamiento farmacológico , Proteína Inhibidora del Complemento C1/uso terapéutico , Diagnóstico Tardío/efectos adversos , Estudios RetrospectivosRESUMEN
BACKGROUND: Diencephalic Syndrome is an atypical early manifestation of low-grade gliomas; so, it is important to detect it in patients that experience a failure to thrive despite adequate length growth and food intake. The purpose of this article is to focus attention on this rare but potentially dangerous cause of poor weight gain or stunting in childhood. MATERIALS AND METHODS: We describe four patients with Diencephalic Syndrome and low-grade gliomas who were evaluated in our institution from January 2017 to December 2021. CASE DESCRIPTION AND RESULTS: two patients presented with suspected malabsorption, and two presented with a suspected eating disorder. In all cases, neurological symptoms appeared late, explaining the reason for the diagnostic delay, which impacts negatively on prognosis and on quality of life. Currently, patients 1 and 2 have stable disease in second-line therapy, patient 3 has stable disease post end of second-line therapy, and patient 4 has stable disease in first-line therapy. Everyone is in psychophysical rehabilitation. CONCLUSIONS: A multidisciplinary evaluation is essential in order to make an early diagnosis and improve prognosis and quality of life.
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Astrocitoma , Glioma , Humanos , Astrocitoma/complicaciones , Astrocitoma/diagnóstico , Astrocitoma/tratamiento farmacológico , Diagnóstico Tardío/efectos adversos , Calidad de Vida , Glioma/complicaciones , Glioma/diagnóstico , Insuficiencia de Crecimiento/etiología , SíndromeRESUMEN
INTRODUCTION: Spontaneous cerebrospinal fluid (CSF) leak into the temporal air spaces is a prominent risk factor for meningitis, often leading to debilitating neurological morbidities and even death. CSF leaks may arise due to trauma, congenital malformation, or surgery, but in most cases, they develop spontaneously. In spontaneous CSF leaks, no obvious triggering event is apparent in the patient's clinical history that points to this diagnosis, in contrast to some of the other etiologies. The clinical presentation of spontaneous CSF leaks is not unique and is characterized by patients' complaints, such as hearing loss and aural fullness. These symptoms are commonly associated with prevalent conditions, such as serous otitis media. For these reasons, a typical diagnostic delay of spontaneous CSF leaks, which can last for years in some cases, leaves the patients exposed to meningeal infection without being offered an efficient surgical treatment to keep them safe and protected.
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Pérdida Auditiva , Otitis Media con Derrame , Humanos , Diagnóstico Tardío/efectos adversos , Pérdida de Líquido Cefalorraquídeo/diagnóstico , Pérdida de Líquido Cefalorraquídeo/etiología , Hueso Temporal/cirugía , Otitis Media con Derrame/complicaciones , Estudios RetrospectivosRESUMEN
BACKGROUND: Vertigo and dizziness in children can be multi-factorial. Vestibular function tests allow an improved differential diagnosis and treatment. Delay in diagnosis of the diverse etiologies causing dizziness can adversely affect the health of children and is a matter of concern for their families. This study analyzes the delay in diagnosis and the importance of establishing a diagnosis with detailed history and neuro-otological evaluation. METHODS: A total of 241 children presenting with vertigo to a tertiary otoneurology clinic between January 2019 and April 2022 were analyzed for the duration between the onset of symptoms and diagnosis, presenting complaints, and characteristic findings. RESULTS: Two hundred and forty-one patients with a mean age of 12.5 ± 3.02 years (range, 5-16 years) were evaluated. About 39.4% of patients were diagnosed after over a year (with some over 5 years) of suffering from vertigo and only 18.7% of patients were diagnosed correctly within 1 month of symptom onset. The presenting features were variable with 174 (72.2%) complaining of spinning, unsteadiness, and falls seen in 36+10+37 (34.4%). Vestibular migraine was the most common diagnosis (63.39%), followed by benign paroxysmal positional vertigo (24.48%), of which the posterior canal was most affected (50.85%) followed by horizontal (40.68%) and anterior canal (8.47%). Other etiologies noted were central (14.10%) and peripheral vestibulopathy (17.42%) and variable other causes (6.19%). CONCLUSION: Many pediatric vertigo and dizziness patients do not reach the correct diagnosis for long durations and are treated as "unspecified dizziness." A detailed examination with a multidisciplinary approach including vestibular evaluation is advocated to give definitive treatment to these children.
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Trastornos Migrañosos , Enfermedades Vestibulares , Humanos , Niño , Adolescente , Mareo/diagnóstico , Mareo/etiología , Diagnóstico Tardío/efectos adversos , Enfermedades Vestibulares/complicaciones , Enfermedades Vestibulares/diagnóstico , Vértigo Posicional Paroxístico Benigno/diagnóstico , Vértigo Posicional Paroxístico Benigno/complicaciones , Trastornos Migrañosos/diagnósticoRESUMEN
INTRODUCTION: Narcolepsy is a disease of unknown etiology, with a very low prevalence (0.02-0.16% in adults, although it must be higher, given the underdiagnosis), characterized by the presence of excessive daytime sleepiness, hypnagogic and/or hypnopompic hallucinations, sleep paralysis and/or cataplexy (if present, we speak of type 1 narcolepsy and, if not, type 2 narcolepsy), whose average diagnostic delay is between 10 and 15 years. CASE REPORT: A 16-year-old male who consulted after visiting different specialists for presenting sleep paralysis during naps, which cause him fear and occasional objects falling from his hands (diagnosed as possible myoclonus). In the anamnesis we were surprised by the presence of sleep paralysis immediately after the start of the naps and, in the directed anamnesis, these sudden movements caused by emotions were compatible with cataplexies, so we performed a nocturnal polysomnographic study and a multiple sleep latency test. With evolution came hypnopompic hallucinations and fragmented nocturnal sleep, as well as occasional daytime sleepiness (thus completing the typical symptomatic tetrad of type 1 narcolepsy with cataplexy). CONCLUSION: Knowledge of this disease is important, considering it as a differential diagnosis in patients with episodes of intractable sleepiness, send these patients to expert doctors in sleep disorders and doing a good anamnesis, performing the necessary complementary tests for the diagnosis of this underdiagnosed disease for its correct management, which is decisive for improving the quality of life of these patients.
TITLE: Parálisis de sueño durante la siesta como síntoma inicial de narcolepsia.Introducción. La narcolepsia es una enfermedad de etiología desconocida, de prevalencia muy baja (el 0,02-0,16% en adultos, aunque debe ser mayor, dado el infradiagnóstico), caracterizada por la presencia de somnolencia diurna excesiva, alucinaciones hipnagógicas y/o hipnopómpicas, parálisis de sueño y/o cataplejía (si está presente, se habla de narcolepsia de tipo 1 y, si no, de narcolepsia de tipo 2), cuya media de retraso diagnóstico se sitúa entre los 10 y los 15 años. Caso clínico. Varón de 16 años que consulta tras visitar a distintos especialistas por presentar parálisis de sueño durante las siestas, que le producen miedo y ocasional caída de objetos de las manos (diagnosticadas como posibles mioclonías). En la anamnesis nos sorprendió la presencia de parálisis de sueño inmediatamente tras el inicio de las siestas y, en la anamnesis dirigida, esos movimientos bruscos provocados por emociones eran compatibles con cataplejías, por lo que realizamos un estudio polisomnográfico nocturno y un test de latencias múltiples del sueño. Con la evolución aparecieron alucinaciones hipnopómpicas y sueño fragmentado nocturno, así como ocasional somnolencia diurna (se completó así la tétrada sintomatológica típica de la narcolepsia con cataplejía de tipo 1). Conclusión. Es importante el conocimiento de esta enfermedad, plantearla como diagnóstico diferencial en pacientes con episodios de somnolencia incoercible, realizar la derivación a consultas especializadas en trastornos de sueño y una buena anamnesis dirigida, e indicar las pruebas complementarias necesarias para el diagnóstico de esta enfermedad infradiagnosticada para su correcto manejo, tan determinante para la mejora de la calidad de vida de estos pacientes.
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Cataplejía , Trastornos de Somnolencia Excesiva , Narcolepsia , Trastornos del Inicio y del Mantenimiento del Sueño , Parálisis del Sueño , Humanos , Adulto , Masculino , Adolescente , Cataplejía/diagnóstico , Cataplejía/complicaciones , Parálisis del Sueño/complicaciones , Parálisis del Sueño/diagnóstico , Diagnóstico Tardío/efectos adversos , Calidad de Vida , Narcolepsia/diagnóstico , Alucinaciones/etiología , Alucinaciones/complicacionesRESUMEN
INTRODUCTION: Stroke presenting with a reduced level of consciousness (RLOC) may result in diagnostic error and/or delay. Missed or delayed diagnosis of acute ischaemic stroke may preclude otherwise applicable hyperacute stroke interventions. The frequency, reasons for, and consequences of diagnostic error and delay due to RLOC are uncertain. METHOD: The databases PubMed, EMBASE, and Cochrane library were searched in adherence with the PRISMA guidelines. The systematic review was prospectively registered on PROSPERO. RESULTS: Initial searches returned 1162 results, of which 6 fulfilled inclusion criteria. The majority of identified studies show that ischaemic stroke presenting with RLOC is at increased risk of missed or delayed diagnosis. Hyperacute stroke interventions may also be delayed. There is limited evidence regarding the reason for these delays; however, the delays may result from neuroimaging delay associated with diagnostic uncertainty. There is also limited evidence regarding the outcomes of patients with stroke and RLOC who experience diagnostic delay; however, the available literature suggests that outcomes may be poor, including motor and cognitive impairment, as well as long-term impaired consciousness. The included studies did not evaluate, but have suggested urgent MRI access, educational interventions, and protocolisation of the evaluation of RLOC as means to reduce poor outcomes. CONCLUSIONS: Ischaemic stroke patients with RLOC are at risk of diagnostic delay and error. These patients may have poor outcomes. Additional research is required to identify the contributing factors more clearly and to provide amelioration strategies.
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Isquemia Encefálica , Accidente Cerebrovascular Isquémico , Accidente Cerebrovascular , Humanos , Accidente Cerebrovascular/diagnóstico por imagen , Accidente Cerebrovascular/etiología , Isquemia Encefálica/diagnóstico , Isquemia Encefálica/diagnóstico por imagen , Estado de Conciencia , Diagnóstico Tardío/efectos adversos , Accidente Cerebrovascular Isquémico/complicacionesRESUMEN
Carpal tunnel syndrome (CTS) is the most common neuropathy in acromegalic patients and is often the initial complaint. However, the diagnosis of acromegaly is often made years after the diagnosis of CTS. In our case report, we describe the case of a patient in whom acromegaly was discovered after presenting bilateral carpal tunnel syndrome, without having acrofacial signs. Increased awareness of signs of acromegaly in patients with CTS might help to shorten the diagnostic delay in acromegaly.
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Acromegalia , Síndrome del Túnel Carpiano , Humanos , Síndrome del Túnel Carpiano/etiología , Acromegalia/diagnóstico , Diagnóstico Tardío/efectos adversosRESUMEN
BACKGROUND: Intracranial dural arterio-venous fistulas are pathological anastomoses between arteries and veins located within dural sheets and whose clinical manifestations depend on location and hemodynamic features. They can sometimes display perimedullary venous drainage (Cognard type V fistulas-CVFs) and present as a progressive myelopathy. Our review aims at describing CVFs' variety of clinical presentation, investigating a possible association between diagnostic delay and outcome and assessing whether there is a correlation between clinical and/or radiological signs and clinical outcomes. METHODS: We conducted a systematic search on Pubmed, looking for articles describing patients with CVFs complicated with myelopathy. RESULTS: A total of 72 articles for an overall of 100 patients were selected. The mean age was 56.20 ± 14.07, 72% of patients were man, and 58% received an initial misdiagnosis. CVFs showed a progressive onset in 65% of cases, beginning with motor symptoms in 79% of cases. As for the MRI, 81% presented spinal flow voids. The median time from symptoms' onset to diagnosis was 5 months with longer delays for patients experiencing worse outcomes. Finally, 67.1% of patients showed poor outcomes while the remaining 32.9% obtained a partial-to-full recovery. CONCLUSIONS: We confirmed CVFs' broad clinical spectrum of presentation and found that the outcome is not associated with the severity of the clinical picture at onset, but it has a negative correlation with the length of diagnostic delay. We furthermore underlined the importance of cervico-dorsal perimedullary T1/T2 flow voids as a reliable MRI parameter to orient the diagnosis and distinguish CVFs from most of their mimics.
Asunto(s)
Malformaciones Vasculares del Sistema Nervioso Central , Enfermedades de la Médula Espinal , Masculino , Humanos , Adulto , Persona de Mediana Edad , Anciano , Diagnóstico Tardío/efectos adversos , Enfermedades de la Médula Espinal/diagnóstico por imagen , Imagen por Resonancia Magnética , Arterias , Encéfalo/patología , Malformaciones Vasculares del Sistema Nervioso Central/complicaciones , Malformaciones Vasculares del Sistema Nervioso Central/diagnóstico por imagenRESUMEN
BACKGROUND: In the North Denmark Region an increased awareness of eosinophilic esophagitis (EoE) was observed after 2011 where a regional biopsy guideline was implemented. This resulted in an increased awareness of EoE and a 50-fold increase in the incidence of EoE patients between 2007-2017. AIMS: The aims of this study were to examine the progress in diagnostic delay, complications, PPI treatment, and follow up since 2017 in Danish patients with eosinophilic esophagitis. MATERIALS AND METHODS: This was a retrospective registry- and population-based cohort study (DanEoE2 cohort) including 346 adult patients with esophageal eosinophilia diagnosed between 2018-2021 in the North Denmark Region. The DanEoE2 cohort included all possible EoE patients by using the Danish Patho-histology registry based on the SNOMED-system. The data was analyzed and compared to the DanEoE cohort (2007-2017). RESULTS: The diagnostic delay of EoE patients diagnosed between 2018-2021 in the North Denmark Region had decreased with a median of 1.5 years (5.5 (2.0;12) years versus 4.0 (1.0;12) years, p=0.03). Strictures before diagnosis had decreased 8.4 % (11.6% versus 3.2%, p=0.003). The number of patients started on high-dose PPI increased (56% versus 88%, p<0.001). An intensified awareness regarding national guidelines and follow-up was observed as an increase in the number of histological follow up (67% versus 74%, p=0.05). CONCLUSIONS: Comparisons of the DanEoE cohorts showed a decrease in diagnostic delay, a decrease in stricture formation before diagnosis, and an improved guideline adherence after 2017. Future studies are needed to assess if symptomatic or histological remission on PPI treatment is more capable of predicting a patient's risk of developing complications.
Asunto(s)
Esofagitis Eosinofílica , Adulto , Humanos , Esofagitis Eosinofílica/diagnóstico , Esofagitis Eosinofílica/tratamiento farmacológico , Esofagitis Eosinofílica/epidemiología , Constricción Patológica , Diagnóstico Tardío/efectos adversos , Estudios Retrospectivos , Estudios de Cohortes , Adhesión a Directriz , Inhibidores de la Bomba de Protones/uso terapéutico , Dinamarca/epidemiologíaRESUMEN
Paragonimiasis contributes to significant foodborne zoonosis worldwide. The major mode of transmission in humans is by consumption of uncooked or undercooked crabs and crayfish harbouring Paragonimus metacercariae. It begins with symptoms like fever and lower respiratory involvement from a few months to a year, mimicking those of tuberculosis and leading to diagnostic delay. Here, we report two cases of paragonimiasis during a period of nine months. Both cases presented with symptoms of productive cough with rusty sputum, chest pain, along with eosinophilia, and pleural effusion and had a history of consumption of smoked crab from the local river. The diagnosis was established by microscopic demonstration of Paragonimus ova in the sputum. They were treated with praziquantel and recovered. Indeed, it is challenging to diagnose paragonimiasis due to the lack of its specific symptoms but should be considered in the differential diagnosis of eosinophilia and pleural effusion in such lung diseases. Keywords: case reports; eosinophilia; paragonimiasis; pleural effusion.