Spectrum of diagnostic errors in cervical spine trauma imaging and their clinical significance.

PURPOSE: To describe and categorize diagnostic errors in cervical spine CT (CsCT) interpretation performed for trauma and to assess their clinical significance. METHODS: All CsCTs performed for trauma with diagnostic errors that came to our attention based on clinical or imaging follow-up or quality assurance peer review from 2004 to 2017 were included. The number of CsCTs performed at our institution during the same time interval was calculated. Errors were categorized as spinal/extraspinal, involving osseous/soft tissue structures, by anatomical site and level. Images were reviewed by a radiologist and two spine surgeons. For each error, the need for surgery, immobilization, CT angiogram of the neck, and MRI was assessed; if any of these were needed, the error was considered clinically significant. RESULTS: Of an approximate total 59,000 CsCTs, 56 reports containing diagnostic errors were included. Twelve were extraspinal, and 44 were spinal (26 fractures, 15 intervertebral disc protrusions, two subluxations, one lytic bone lesion). The most common sites of spinal fractures were vertebral body (n = 10) and transverse process (n = 8); the most common levels were C5 (n = 8) and C7 (n = 6). All (n = 26) fractures and two atlantooccipital subluxations were considered clinically significant, including three patients who would have required urgent surgical stabilization (two subluxations and one facet fracture). Two transverse processes fractures did not alter the need for surgical intervention/surgical approach, immobilization, or MRI. CONCLUSIONS: In our study, 66% of spinal diagnostic errors on CsCT were considered clinically significant, potentially altering clinical management. Transverse process and vertebral body fractures were commonly missed.

JOURNAL CLUB: Radiology Report Addenda: A Self-Report Approach to Error Identification, Quantification, and Classification.

OBJECTIVE: The purpose of this study was to analyze report addenda to assess the self-reported error rate in radiologic study interpretation, the types of errors that occur, and the distribution of error by image modality. MATERIALS AND METHODS: Addenda to all diagnostic radiology reports were compiled over a 1-year period (n = 5568). The overall error rate was based on addenda frequency relative to the total number of studies performed. Addenda written over the most recent 2-month interval (n = 851) were classified into five major categories of predominant error type: underreading, overreading, poor communication, insufficient history, and poor technique. Each category was further divided into multiple subtypes. RESULTS: Diagnostic studies at our hospital had an error rate of 0.8%. Errors of poor communication occurred most frequently (44%), followed by underreading (7%), insufficient history (21%), overreading (8%), and poor technique (1%). Analyzed by imaging modality, most errors occurred in PET (19.45 per 1000 studies), followed by MRI (13.86 per 1000 studies) and CT (12.45 per 1000 studies). CONCLUSION: Through the use of report addenda to calculate error, discrepancy between individual radiologists is removed in a reproducible and widely applicable way. This approach to error typology eliminates sample bias and in a departure from previous analyses of difficult cases shows that errors of communication are most frequent, representing a clear area for targeted improvement.

Diagnostic Errors in a PICU: Insights From the Morbidity and Mortality Conference.

OBJECTIVES: To describe diagnostic errors identified among patients discussed at a PICU morbidity and mortality conference in terms of Goldman classification, medical category, severity, preventability, contributing factors, and occurrence in the diagnostic process. DESIGN: Retrospective record review of morbidity and mortality conference agendas, patient charts, and autopsy reports. SETTING: Single tertiary referral PICU in Baltimore, MD. PATIENTS: Ninety-six patients discussed at the PICU morbidity and mortality conference from November 2011 to December 2012. INTERVENTIONS: None. MEASUREMENTS AND MAIN RESULTS: Eighty-nine of 96 patients (93%) discussed at the PICU morbidity and mortality conference had at least one identified safety event. A total of 377 safety events were identified. Twenty patients (21%) had identified misdiagnoses, comprising 5.3% of all safety events. Out of 20 total diagnostic errors identified, 35% were discovered at autopsy while 55% were reported primarily through the morbidity and mortality conference. Almost all diagnostic errors (95%) could have had an impact on patient survival or safety. Forty percent of errors did not cause actual patient harm, but 25% were severe enough to have potentially contributed to death (40% no harm vs 35% some harm vs 25% possibly contributed to death). Half of the diagnostic errors (50%) were rated as preventable. There were slightly more system-related factors (40%) solely contributing to diagnostic errors compared with cognitive factors (20%); however, 35% had both system and cognitive factors playing a role. Most errors involved vascular (35%) followed by neurologic (30%) events. CONCLUSIONS: Diagnostic errors in the PICU are not uncommon and potentially cause patient harm. Most appear to be preventable by targeting both cognitive- and system-related contributing factors. Prospective studies are needed to further determine how and why diagnostic errors occur in the PICU and what interventions would likely be effective for prevention.

Value of a standardized lexicon for reporting levels of diagnostic certainty in prostate MRI.

OBJECTIVE: The purpose of this study was to evaluate the usefulness and diagnostic performance of a 5-point standardized diagnostic certainty lexicon for reporting the likelihood of extracapsular extension (ECE) of prostate cancer on routine staging prostate MRI. MATERIALS AND METHODS: This study was a retrospective analysis of routine clinical prostate MRI reports before (254 patients) and after (211 patients) the implementation of a 5-point diagnostic certainty lexicon. Whole-mount step-section pathology of the radical prostatectomy specimens served as the reference standard. The terms used to express diagnostic certainty regarding ECE on standard-of-care MRI and the presence of ECE on pathology were compared between the two periods. ROC analysis was used to evaluate the diagnostic accuracy of the 5-point certainty lexicon for detecting ECE. RESULTS: Before the implementation of the certainty lexicon, radiologists used 38 different terms to express the levels of certainty regarding the presence of ECE on MRI. Afterward, they adhered to the lexicon's predefined 5-point terminology in 85.3% of cases. The 5-point certainty lexicon used on MRI reports had an AUC of 0.852 for diagnosing ECE. CONCLUSION: The implementation of a lexicon of diagnostic certainty dramatically reduced the number of expressions used by radiologists to indicate their levels of diagnostic certainty. The accuracy of the certainty lexicon for diagnosing ECE on standard-of-care prostate MRI is similar to previously reported accuracy values for the diagnosis of ECE by MRI. Thus, the use of such a lexicon might prevent miscommunication and help referring clinicians reliably incorporate radiologists' assessments into clinical decision making.

Diagnostic error in children presenting with acute medical illness to a community hospital.

OBJECTIVE: To determine incidence and aetiology of diagnostic errors in children presenting with acute medical illness to a community hospital. DESIGN: A three-stage study was conducted. Stage 1: retrospective case note review, comparing admission to discharge diagnoses of children admitted to hospital, to determine incidence of diagnostic error. Stage 2: cases of suspected misdiagnosis were examined in detail by two reviewers. Stage 3: structured interviews were conducted with clinicians involved in these cases to identify contributory factors. SETTING: UK community (District General) hospital. PARTICIPANTS: All medical patients admitted to the paediatric ward and patients transferred from the Emergency Department to a different facility over a 90-day period were included. MAIN OUTCOME MEASURES: Incidence of diagnostic error, type of diagnostic error and content analysis of the structured interviews to determine frequency of emerging themes. RESULTS: Incidence of misdiagnosis in children presenting with acute illness was 5.0% (19/378, 95% confidence interval (CI) 2.8-7.2%). Diagnostic errors were multi-factorial in origin, commonly involving cognitive factors. Reviewers 1 and 2 identified a median of three and four errors per case, respectively. In 14 cases, structured interviews were possible; clinicians believed system-related errors (organizational flaws, e.g. inadequate policies, staffing or equipment) contributed more commonly to misdiagnoses, whereas reviewers found cognitive factors contributed more commonly to diagnostic error. CONCLUSIONS: Misdiagnoses occurred in 5% of children presenting with acute illness and were multi-factorial in aetiology. Multi-site longitudinal studies further exploring aetiology of errors and effect of educational interventions are required to generalize these findings and determine strategies for mitigation.

Reducing cognitive errors in dermatology: can anything be done?

An increasing focus on the prevention of medical errors is a direct result of a growing patient safety movement. Although the reduction of technical errors has been the focus of most interventions, cognitive errors, usually more than one error linked together, actually cause the majority of misdiagnoses. This article examines the most common types of cognitive errors in dermatology. Two methods to minimize these errors are recommended: first, cognitive debiasing techniques reduce the common initiating factor of error cascades; and secondly, the application of prospective hindsight attacks the final common pathway that leads to misdiagnosis.

[Quality management in pathology--an executive function and political implications]. / Qualitätsmanagement--Eine unternehmerische und berufspolitische Aufgabe in der Pathologie.

Quality management (QM) is primarily an in-house executive function. It conduces to ensure a high quality service and has the external object to satisfy customer expectations. In Germany the implementation of quality management systems (QMS) is made compulsory for all medical facilities by law. However, details are not regulated and there is no need to certify the in-house QMS. Within the last 10 years many pathology institutions have become certified or accredited and have implemented voluntary measures of external quality assurance, such as quality circles and round robin trials. For non-certified institutions it might be helpful to be guided by established QM standards like the ISO 9001:2008. The fundamental concepts of QM, some pathology-specific aspects and some implications for the professional associations are discussed in this article.

[Errors in forensic medical activities].

The comparative structural and systemic analysis of 303 forensic medical expert conclusion (acts) made it possible to reveal and systematize errors encountered in forensic medical practice at the stages of investigation, interpretation, and estimation of the obtained results. The authors distinguish between performance errors and cognitive errors in the course of forensic medical expertise. The definition of the notion of "expert error" is proposed. The process of error analysis is described with special reference to forensic medical activities.

Study of amended reports to evaluate and improve surgical pathology processes.

BACKGROUND: : Amended surgical pathology reports record defects in the process of transforming tissue specimens into diagnostic information. OBJECTIVE: : Systematic study of amended reports tests 2 hypotheses: (a) that tracking amendment frequencies and the distribution of amendment types reveals relevant aspects of quality in surgical pathology's daily transformation of specimens into diagnoses and (b) that such tracking measures the effect, or lack of effect, of efforts to improve surgical pathology processes. MATERIALS AND METHODS: : We applied a binary definition of altered reports as either amendments or addenda and a taxonomy of defects that caused amendments as misidentifications, specimen defects, misinterpretations, and report defects. During the introduction of a LEAN process improvement approach-the Henry Ford Productions System-we followed trends in amendment rates and defect fractions to (a) evaluate specific interventions, (b) sort case-by-case root causes of misidentifications, specimen defects, and misinterpretations, and (c) audit the ongoing accuracy of the classification of changed reports. LEAN is the management and production system of the Toyota Motor Corporation that promotes continuous improvement; it considers wasted resources expended for purposes other than creating value for end customers and targets such expenditures for elimination. RESULTS: : Introduction of real-time editing of amendments saw annual amendment rates increase from 4.8/1000 to 10.1/1000 and then decrease in an incremental manner to 5.6/1000 as Henry Ford Productions System-specific interventions were introduced. Before introduction of HFPS interventions, about a fifth of the amendments were due to misidentifications, a 10th were due to specimen defects, a quarter due to misinterpretation, and almost half were due to report defects. During the period of the initial application of HFPS, the fraction of amendments due to misidentifications decreased as those due to report defects increased, in a statistically linked manner. As HFPS interventions took hold, misidentifications fell from 16% to 9%, specimen defect rates remained variable, ranging between 2% and 11%, and misinterpretations fell from 18% to 3%. Reciprocally, report defects rose from 64% to 83% of all amendment-causing defects. A case-by-case study of misidentifications, specimen defects, and misinterpretations found that (a) intervention at the specimen collection level had disappointingly little effect on patient misidentifications; (b) standardization of specimen accession and gross examination reduced only specimen defects surrounding ancillary testing; but (c) a double review of breast and prostate cases was associated with drastically reduced misinterpretation defects. Finally, audit of both amendments and addenda demonstrated that 10% of the so-called addenda actually qualified as amendments. DISCUSSION: : Monitored by the consistent taxonomy, rates of amended reports first rose, then fell. Examining specific defect categories provided information for evaluating specific LEAN interventions. Tracking the downward trend of amendment rates seemed to document the overall success of surgical pathology quality improvement efforts. Process improvements modestly decreased fractions of misidentifications and markedly decreased misinterpretation fractions. Classification integrity requires real time, independent editing of both amendments (changed reports) and addenda (addition to reports).

Understanding errors in diagnostic radiology: proposal of a classification scheme and application to emergency radiology.

Errors in image interpretation are a common problem in diagnostic radiology. Although many published articles provide trainees with the means to correctly interpret imaging studies, they do not provide a framework for understanding why and how errors occur. In this article, we propose a classification system that allows categorization of errors, which we hope can serve as a basis for peer review, self-education, and quality improvement programs. Our scheme incorporates elements of a classification system proposed by previous authors but also includes novel categories. In this article, we show the usefulness of our scheme by applying it to a specific, and particularly problematic, diagnosis in emergency radiology, namely that of dural sinus thrombosis.

Stroke Mimics and Chameleons from the Radiological Viewpoint of Glioma Diagnosis.

Gliomas are sometimes difficult to differentiate from strokes and are often misdiagnosed on magnetic resonance imaging (MRI); thus, the terms "stroke mimics" and "stroke chameleons" have been introduced. In this study, we analyzed stroke mimics and stroke chameleons in glioma and discussed the diagnostic perplexity.We retrospectively reviewed cases that were removed from lesions that were considered to be brain tumors. This study enrolled 214 patients who underwent tumor resection for suspected glioma. Clinical characteristics and radiological findings of the patients were compared between the masquerade findings group, which was further divided into two groups: the stroke chameleons and stroke mimics according to their final diagnosis, and the intelligible findings group.Stroke chameleons and stroke mimics were significantly higher in age and smaller in lesion size than the intelligible findings group. In the multivariate analysis, the predictive factor of the masquerade finding group was higher age and smaller size. Stroke mimics group has a tendency to be higher rate of hyperintensity lesion on diffusion-weighted imaging (DWI) compared with stroke chameleons group. The average period from initial diagnosis to pathological diagnosis was 13.50 days in the stroke chameleons and 61.50 days in the stroke mimics, which proved significantly different.Proper diagnosis of glioma and stroke affects a patient's prognosis, and should be diagnosed as soon as possible. However, stroke mimics and stroke chameleons caused by glioma can occur. Thus, the diagnosis of a stroke should take into consideration the possibility of a glioma in real clinical situations.

[Analysis of the major clinical-pathological discrepancies in autopsies of adults in a tertiary referral hospital between 2008-2017]. / Análisis de las principales discrepancias clínico-patológicas mayores en adultos en los estudios de autopsia de un hospital de tercer nivel en la década 2008-2017.

OBJECTIVE: To compare and contrast clinical diagnoses with autopsy findings in order to identify unexpected, relevant discrepancies. MATERIAL AND METHOD: A retrospective observational study of the revision of autopsies of adults and their respective medical records in order to classify them according to referral department and Goldman's classification was carried out at the Central University Hospital of Asturias between 2008-2017. RESULTS: 694 (52.6%) of 1320 autopsies were included in the study. Discrepancies were observed in 57.6% of cases, although the majority (39.3%) were minor. Type I discrepancies were identified in 63 autopsies (9.1%); malignant neoplasms being the main pathology observed (57.1%), mainly of gastrointestinal origin (about 28%). The second most common discrepancy was found in cases of infectious diseases (23.8%) followed by pulmonary embolism (15.9%). 64 autopsies were classified as type II discrepancies (9.2%), with myocardial infarct the most common (37.5%), especially acute myocardial infarction (18 cases), followed by bronchoaspirations (18.7%), DIC (15.6%), massive haemorrhages (9.4%) and other conditions. It was considered that both the ICU and the Internal Medicine Service were responsible for the largest number of major discrepancies (type I and II), accounting for about 45% of type I and slightly more than 56% for type II. CONCLUSION: Autopsies are an essential means of identifying ante-mortem clinical errors. The incidence of major discrepancies in the Central University Hospital of Asturias (18.3%) is comparable to that of leading hospitals worldwide.

Detection and classification of diagnostic discrepancies (errors) in surgical pathology.

Detecting and classifying error in a surgical pathology (SP) practice is an important part of a comprehensive quality assurance program. There are a number of mechanisms to detect error, including secondary review, examination of amended reports, correlation studies (cytology-histology and frozen-final diagnosis correlation). These different detection methods are reviewed in this paper. Additionally, the most common methods for error classification are also reviewed, along with the benefits and limitations of each. Although there is presently no gold standard for detecting or classifying errors in SP, based on this review of the literature, it is clearly good practice to consistently apply a standard method. Most importantly, these data should be incorporated into quality assurance and quality improvement activities, such that departments strive to reduce errors, and to help improve overall quality in SP.

Quality initiatives: anatomy and pathophysiology of errors occurring in clinical radiology practice.

The Joint Commission requires development of comprehensive error detection systems that incorporate root cause analyses for all sentinel events. To prevent medical errors from occurring, there is a need for a readily available and easy-to-implement system for detecting, classifying, and managing mistakes. The wide spectrum of interrelated contributing factors makes the classification of errors difficult. Contributors to and causes of radiologic errors can be classified under latent and active failures. Latent failures include technical and system-related failures, with a radiology-specific subgroup of communication failures that includes documentation, inaccurate or incomplete information, and communication loop failures. Active failures may be ascribed to human failures (more specifically failure of execution of a task, inadequate planning, or behavior-related failures), patient-based failures, and external failures. Classification of an error should also include the impact of the error on the patient, staff, other customers, and radiology practice. Further considerations should include nonmedical impact of the error, including legal, social, and economic effects on both the patient and the system. Rather than focusing the investigation on blaming individuals for active failures, the primary effort should be to discover latent system failures that can be remedied at a departmental level. Such an error classification system will decrease the likelihood of future errors and diminish their adverse impact.

Double check up of malignancy biopsy specimens for patient safety.

BACKGROUND: The diagnostic of malignancy in biopsy specimens is very important because it guides to selected treatment option and prognostic prediction. However biopsy specimens usually have small pieces leading to variations of the interpretation by anatomical pathologists. OBJECTIVE: To detect and correct the errors or the significant discrepancies in the diagnosis of biopsy specimens before sign-out and to determine the frequency of anatomic pathology significant discrepancies. DESIGN: The application of the mutually agreed work instructions (record) for the detection of errors or the significant discrepancies and their process of sign-out. The record of biopsy specimen that received a secondary check (1959 cases, 2005-2007) was analyzed. RESULTS: After a secondary check, 53 cases of non-malignancy for any reason by a second pathologist were included. However when using our definition on significant discrepancies, only 37 cases were considered. Another seven cases with the opinions with malignancy that were of different cell types that do harm to the patients were added. Therefore, 44 cases (2.25%) had truly significant discrepancies. CONCLUSION: The truly significant discrepancy frequency was 2.25% during the process of pre-sign-out secondary check of malignancy of biopsy specimens. The project has been applied as a routine daily work. It can be an innovative safety program for patient in Thailand.

Anterior Urethral Valve - A Commonly Misdiagnosed Entity in Adolescent Boys.

Anterior urethral valves are a rare cause of obstructed voiding in adolescent children and are often unheard by adult urologists. In this case report, we discuss the management of two adolescent patients who were referred to us with obstructive voiding symptoms with a diagnosis of neurogenic bladder and posterior urethral valves respectively but on evaluation were found to have anterior urethral valves. This article highlights the need for considering anterior urethral valve as an important differential diagnosis in children and adolescents presenting with obstructive voiding symptoms so as to avoid delay in diagnosis and management in young boys.

Diagnostic errors in pediatric echocardiography: development of taxonomy and identification of risk factors.

BACKGROUND: Despite increased interest in complications within pediatric cardiology, the domain of imaging-related diagnostic errors has received little attention. We developed a new taxonomy for diagnostic errors within pediatric echocardiography that categorizes errors by severity, preventability, and primary contributor. Our objectives were to examine its findings when applied to diagnostic error cases and to identify risk factors for preventable or possibly preventable diagnostic errors. METHODS AND RESULTS: Diagnostic errors were identified at a high-volume academic pediatric cardiac center from December 2004 to August 2007. Demographic, clinical, and situational variables were collected from these cases and controls. During the study period, approximately 50,660 echocardiograms were performed. Among the 87 diagnostic error cases identified, 70% affected clinical management or the patient was at risk of or experienced an adverse event. One third of the errors were preventable and 46% were possibly preventable; 69% of preventable errors were of moderate severity or greater. Univariate analysis demonstrated that preventable or possibly preventable errors were more likely to involve younger patients, lower body weight, study location, sedated/anesthetized patients, studies performed and interpreted at night, uncommon diagnoses, and greater anatomic complexity than controls. Multivariate analysis identified the following risk factors: rare or very rare diagnoses (adjusted odds ratio [AOR], 9.2; P<0.001), study location in the recovery room (AOR, 7.9; P<0.001), moderate anatomic complexity (AOR, 3.5; P=0.004), and patient weight <5 kg (AOR, 3.5; P=0.031). CONCLUSIONS: A diagnostic error taxonomy and knowledge of risk factors can assist in identification of targets for quality improvement initiatives that aim to decrease diagnostic error in pediatric echocardiography.

Eight CT lessons that we learned the hard way: an analysis of current patterns of radiological error and discrepancy with particular emphasis on CT.

AIM: To review cases discussed at a radiology departmental errors and discrepancies meeting, classify these to determine common patterns of error, and, focussing on CT, present a small number of specific errors that occur commonly. MATERIALS AND METHODS: All cases discussed at our departmental discrepancies and complications meeting over a 30 month period were reviewed. Those where a genuine error was agreed to have arisen were classified by error type: poor image interpretation (false positive, false negative, misclassification); technical error (poor technique or procedural complication); and communications error. The imaging method from which the error arose was also recorded. Specific recurring errors were identified and collated. RESULTS: Two hundred and fifty-six errors were identified in 222 patients. Two hundred and twenty-five errors (88%) were due to poor image interpretation (14 false positive, 155 false negative, 56 misclassification). Seven errors (3%) were technical and 24 errors (9%) were due to poor communication. One hundred and fifty-nine (62%) of the 256 errors arose in relation to CT, 31 (12%) to ultrasound, 29 (11%) to magnetic resonance imaging (MRI), 24 (9%) to radiography, and 13 (5%) to fluoroscopy examinations, three (1.2%) of which involved vascular intervention. Several repeating errors arising during CT reporting were identified. CONCLUSIONS: Error is commonly identified in relation to radiological examinations. Most errors involve image interpretation, but a significant proportion result from departmental miscommunication. The majority of errors are false-negative interpretations and occur during interpretation of CT examinations. Recurring false-negative CT errors include failure to appreciate unexpected bowel or pancreatic malignancy, incidental pulmonary emboli, abnormality of vascular structures, bone lesions, omental disease, incidental abnormality present on targeted examinations or lesions on the periphery of the field of view.

[Accuracy of spirometry performed by general practitioners and pulmonologists in Pomeranian Region in the "Prevention of COPD" NHS program]. / Ocena poprawnosci wykonania badania spirometrycznego przez lekarzy podstawowej opieki zdrowotnej oraz pneumonologów w ramach ogólnopolskiego programu Narodowego Funduszu Zdrowia: "Profilaktyka POChP".

INTRODUCTION: Spirometry is the key test in diagnosing and severity assessment of chronic obstructive pulmonary disease (COPD). Despite the simplicity of the test, the discrepancy between results obtained by general practitioners and specialists is noted, what may lead to under- or overestimating of COPD prevalence. The aim of the study was to evaluate the quality of spirometry testing and interpretation performed by general practitioners and pulmonologists. MATERIAL AND METHODS: Physicians from 56 healthcare units in the region of Pomerania were included. The participants (both GPs and pulmonologists) were trained in methodology and interpretation of spirometry tests. Then they were asked to choose 10 spirograms and send them for evaluation. Presence of patients' personal details and signature of staff member, contents of graphs and tables, accuracy of the test and correctness of interpretation were evaluated. In statistical analysis c-square test was used. RESULTS: The response from 14 healthcare units was received including 142 spirograms from GPs and 80 from pulmonologists. All spirograms contained personal details, gender, age, body weight and height as well as results of spirometry in form of tables and diagrams with predicted and measured values. Pulmonologists signed the spirograms more often than GPs (91% v. 77%, p<0.001) and more often presented results of properly performed tests (75% v. 45%, p<0.0001). However, in their group there were more interpretation errors (73% v. 91%, p<0.05). Methodological mistakes revealed during the study were usually: too short and not enough dynamic inspiration and expiration. In some cases spirograms with expiration lasting 1.3 sec were considered normal. The most common interpretation mistakes included: diagnosis of mixed-type ventilatory defects, wrong classification of obstruction level and lack of interpretation. In two cases result was found to be normal despite the lack of forced expiratory volume in one second value. CONCLUSION: The results indicate the necessity of continuous training in spirometry testing and interpretation by both general practitioners and specialists and nurses.

Misdiagnosis and diagnostic delay in non-paraneoplastic sensory neuronopathies.

METHODS: Sensory neuronopathies (SN) are a group of peripheral nerve disorders characterized by multifocal non-length-dependent sensory deficits and sensory ataxia. Its recognition is essential not only for proper management but also to guide the etiological investigation. The uncommon SN clinical picture and its rarity set the conditions for the misdiagnosis and the diagnostic delay, especially in non-paraneoplastic SN. Therefore, our objectives were to characterize the diagnostic odyssey for non-paraneoplastic SN patients, as well as to identify possible associated factors. We consecutively enrolled 48 non-paraneoplastic SN patients followed in a tertiary neuromuscular clinic at the University of Campinas (Brazil). All patients were instructed to retrieve their previous medical records, and we collected the data regarding demographics, disease onset, previous incorrect diagnoses made and the recommended treatments. RESULTS: There were 34 women, with a mean age at the diagnosis of 45.9 ± 12.2 years, and 28/48 (58%) of the patients were idiopathic. Negative sensory symptoms were the heralding symptoms in 25/48 (52%); these were asymmetric in 36/48 (75%) and followed a chronic course in 35/48 (73%). On average, it took 5.4 ± 5.3 years for SN to be diagnosed; patients had an average of 3.4 ± 1.5 incorrect diagnoses. A disease onset before the age of 40 was associated to shorter diagnosis delay (3.7 ± 3.4 vs. 7.8 ± 6.7 years, p = 0.01). CONCLUSIONS: These results suggest that diagnostic delay and misdiagnosis are frequent in non-paraneoplastic SN patients. As in other rare conditions, increased awareness in all the healthcare system levels is paramount to ensure accurate diagnosis and to improve care of these patients.