Not Always Asthma: Clinical and Legal Consequences of Delayed Diagnosis of Laryngotracheal Stenosis

Laryngotracheal stenosis (LTS) is a rare condition that occurs most commonly as a result of instrumentation of the airway but may also occur as a result of inflammatory conditions or idiopathically. Here, we present the case of a patient who developed LTS as a complication of granulomatosis with polyangiitis (GPA), which was misdiagnosed as asthma for 6 years. After an admission with respiratory symptoms that worsened to the extent that she required intubation, a previously well 14-year-old girl was diagnosed with GPA. Following immunosuppressive therapy, she made a good recovery and was discharged after 22 days. Over subsequent years, she developed dyspnoea and “wheeze” and a diagnosis of asthma was made. When she became pregnant, she was admitted to hospital with worsening respiratory symptoms, whereupon her “wheeze” was correctly identified as “stridor,” and subsequent investigations revealed a significant subglottic stenosis. The delay in diagnosis precluded the use of minimally invasive therapies, with the result that intermittent laser resection and open laryngotracheal reconstructive surgery were the only available treatment options. There were numerous points at which the correct diagnosis might have been made, either by proper interpretation of flow-volume loops or by calculation of the Empey or Expiratory Disproportion Indices from spirometry data.

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Educational aspects of rare and orphan lung diseases

Respiratory Research ◽

10.1186/s12931-021-01676-1 ◽

2021 ◽

Vol 22 (1) ◽

Author(s):

Tiago M. Alfaro ◽

Marlies S. Wijsenbeek ◽

Pippa Powell ◽

Daiana Stolz ◽

John R. Hurst ◽

...

Keyword(s):

Lung Diseases ◽

Healthcare Professionals ◽

Treatment Options ◽

Delayed Diagnosis ◽

Reference Network ◽

Delay In Diagnosis ◽

Positive Effects ◽

European Reference Network ◽

Patient Representatives ◽

Rare Lung Diseases

AbstractPeople with rare lung diseases often suffer the burden of delayed diagnosis, limited treatment options, and difficulties in finding expert physicians. One of the reasons for the delay in diagnosis is the limited training for healthcare practitioners on rare diseases. This review explores the main concerns and needs for education on rare lung diseases from the perspectives of both patients and professionals. Despite the increasing interest in rare lung disorders and some recent breakthrough developments on the management of several diseases, healthcare professionals, including general practitioners and hospital workers, receive little education on this topic. Nonetheless, many healthcare professionals show much interest in receiving further training, especially on diagnosis. Patients and families want easier access to high-quality education materials to help them manage their own disease. Well-educated patients are better equipped to deal with chronic diseases, but patient education can be challenging as patients’ individual health issues, and diverse backgrounds can create significant barriers. Raising more awareness for rare lung diseases and further development of patient-centred international expert networks like the European Reference Network on Rare Lung Diseases (ERN-LUNG), which includes both experts and patient representatives, are essential for improving care and education on rare lung diseases. Initiatives such as the Rare Disease Day, have been successful in increasing awareness for rare conditions. The development of online tools for accessing information has had positive effects and should be further supported and extended in the future.

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Retroperitoneal Tumours - Treatment and Prognosis of Tumour Recurrence

Revista de Chimie ◽

10.37358/rc.19.1.6879 ◽

2019 ◽

Vol 70 (1) ◽

pp. 190-184 ◽

Cited By ~ 2

Author(s):

Ovidiu Gabriel Bratu ◽

Alexandru Ionut Cherciu ◽

Adrian Bumbu ◽

Sorin Lupu ◽

Dragos Radu Marcu ◽

...

Keyword(s):

Tumor Recurrence ◽

Treatment Options ◽

Correct Diagnosis ◽

Tumor Resection ◽

Rare Condition ◽

Unknown Origin ◽

Surgical Excision ◽

Tumor Grade ◽

High Volume ◽

Retroperitoneal Tumors

Retroperitoneal tumors, once considered uncommon, have been reported in the last years in such numbers that they cannot be considered anymore a rare condition. Tumor recurrence following surgical excision is quite common and a tumor that was considered originally as benign in many cases can recur as a malignant tumor. The purpose of this paper is to underline the difficulties in terms of establishing a correct diagnosis and a proper therapeutic protocol when facing a retroperitoneal mass of unknown origin, as well as to present the available data regarding prognosis, treatment options and tumor recurrence. Retroperitoneal tumors can be classified as benign or malignant; solid, cystic or both; single or multiple, and of varied histological types. A high percentage of patients with retroperitoneal tumors are discovered in advanced stages, usually seeking medical help for symptoms related to nearby organ compression/invasion. This pathology requires a prompt and adequate multidisciplinary management, in order to achieve disease control and to reduce the recurrence rate. Complete surgical resection is the potential curative treatment for retroperitoneal tumors and it is best managed in high-volume centers, by a multidisciplinary team. Complete oncological tumor resection and tumor grade remain the most important predictors for local recurrence and disease-specific survival. Further research is required in order to define the role of radiotherapy, as well as to discover new biological therapies that target various molecular pathways involved in retroperitoneal cancers.

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Management of Esophageal Perforation: 28-Year Experience in a Major Referral Center

The American Surgeon ◽

10.1177/000313481808400520 ◽

2018 ◽

Vol 84 (5) ◽

pp. 684-689 ◽

Cited By ~ 3

Author(s):

Ana Puertavicente ◽

Pablo Priego JimÉNez ◽

María Ángeles Cornejo López ◽

Francisca GarcÍA-Moreno Nisa ◽

Gloria RodrÍGuez Velasco ◽

...

Keyword(s):

Esophageal Perforation ◽

Severe Disease ◽

Treatment Options ◽

Delayed Diagnosis ◽

Mortality Rates ◽

Endoscopic Management ◽

High Morbidity ◽

Septic Complications ◽

Delay In Diagnosis ◽

Individualized Approach

Esophageal perforation constitutes a surgical emergency. Despite its gravity, no single strategy has been described as sufficient to deal with most situations to date. The aim of this study was to assess the etiology, management, and outcome of esophageal perforation over a 28-year period, to characterize optimal treatment options in this severe disease. A retrospective clinical review of all patients treated for esophageal perforation at Ramón y Cajal Hospital between January 1987 and December 2015 was performed (n = 57). Iatrogenic injury was the most frequent cause of esophageal perforation (n = 32). Abdominal esophagus was the main location (23 patients; 40.4%). Eight patients (14%) were managed with antibiotics and parenteral nutrition. In seven patients (12.3%), an endoscopic stent was implanted. Surgical therapy was performed in 38 patients (66.7%). Morbidity and 90-day mortality rates were 61.4 and 28 per cent, respectively. Five patients were reoperated (8.8%). Median hospital stay was 23.5 days. The mortality rate was higher among patients with spontaneous and tumoral perforation (54.5 and 100%; P = 0.009), delayed diagnosis (>24 hours; P = 0.0001), and abdominal/thoracic location (37.5%; P = 0.05). No statistical differences were found between surgical and conservative/endoscopic management (31% vs 20%; P = 0.205) although hospital staying was longer in surgical group (36.30 days vs 15.63 days; P = 0.029). Esophageal perforation was associated with high morbidity and mortality rates. Global outcomes depend on etiology, site of perforation, and delay in diagnosis. An individualized approach for each patient should be chosen to prevent septic complications of this potentially fatal disease.

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Is it time to rethink the diagnosis of Morton’s Neuroma?

Journal of Clinical Review & Case Reports ◽

10.33140/jcrc.04.11.07 ◽

2019 ◽

Vol 4 (11) ◽

Keyword(s):

Treatment Options ◽

Correct Diagnosis ◽

Delayed Diagnosis ◽

Morton’S Neuroma ◽

Retrospective Case ◽

Multiple Treatment ◽

Morton's Neuroma ◽

Receive Treatment ◽

The Right ◽

Clinical Records

There is currently little consensus on the definition and correct diagnosis of Morton’s Neuroma. The literature offers multiple treatment options. Presently, a major concern is incorrectly or over-diagnosing of the condition. The objective of this paper is to examine the likelihood of an incorrect diagnosis of patients who receive treatment for Morton’s Neuroma and compare to the rates of diagnosis and treatments demonstrated in the academic literature. A retrospective case cohort review was conducted examining patient clinical records over a five-year period from a single clinical practice. The data collected pertained to who and how the diagnosis of Morton’s Neuroma was made, the treatments performed and their outcomes. Our review included 30 patients (mostly women) presenting on the right foot. A diagnosis of Morton’s Neuroma was suggested by a General Practitioner in majority of the cases, followed by Radiologists, Orthopaedic Surgeons and Vascular Surgeons respectively. The chief concern was the frequent inaccurate diagnosis of Morton’s Neuroma in this patient cohort. The uncertainties surrounding this condition result in delayed diagnosis and treatment, unnecessary expenditure of health care funds, and deleteriously affects quality of life in patients.

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Infantile GM1-Gangliosidosis Revealed by Slate-Grey Mongolian Spots

The Open Pediatric Medicine Journal ◽

10.2174/1874309901909010001 ◽

2019 ◽

Vol 9 (1) ◽

pp. 1-4

Author(s):

Ghizlane Draïss ◽

Adil Fouad ◽

Nourddine Rada ◽

Ouafa Hocar ◽

Naima Fdil ◽

...

Keyword(s):

Delayed Diagnosis ◽

Rare Condition ◽

Organ Damage ◽

Neurological Deficits ◽

Review Of The Literature ◽

Clinical Expression ◽

Inborn Errors ◽

Gm1 Gangliosidosis ◽

Delay In Diagnosis ◽

Infantile Type

Introduction: GM1-gangliosidosis is an inherited metabolic disease caused by mutations in the GLB1 gene resulting in deficiency of β-galactosidase. Three forms have been identified: Infantile, juvenile, and adult. The infantile type progresses rapidly and aggressively and a delayed diagnosis hampers the prevention of many neurological deficits. This delay in diagnosis may be due to the variability of clinical expression of the disorder. Hypothesis: Extensive Mongolian or slate-grey spots deserve special attention as possible indications of associated inborn errors of metabolism, especially GM1-gangliosidosis and mucopolysaccharidosis. Only symptomatic treatments are available for GM1-gangliosidosis; research is underway. Observation: In this article, we report a case of infantile GM1-gangliosidosis revealed by slate-grey Mongolian spots, a rare condition in Morocco, and a review of the literature. Conclusion: The finding of persistent and extensive slate-grey mongolian spots in infant could lead to early detection of GM1-gangliosidosis before irreversible organ damage occurs.

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Female Primary Bladder Neck Obstruction: Role of Videourodynamics and Treatment Options in a Rare Clinical Entity

Urologia Journal ◽

10.5301/uro.5000203 ◽

2016 ◽

Vol 84 (2) ◽

pp. 109-112

Author(s):

Enrico Ammirati ◽

Alberto Manassero ◽

Alessandro Giammò ◽

Francesco Marson ◽

Alberto Gurioli ◽

...

Keyword(s):

Bladder Neck ◽

Treatment Options ◽

Correct Diagnosis ◽

Rare Condition ◽

Postvoid Residual ◽

Female Bladder ◽

Bladder Neck Obstruction ◽

Primary Bladder ◽

Primary Bladder Neck Obstruction ◽

Step Therapy

Introduction Primary female bladder neck obstruction is a rare clinical condition characterized by the absence/incomplete bladder neck opening during the voiding phase of micturition. Methods We present the cases of two women complaining dysuria, abdominal straining and sensation of incomplete bladder emptying. Videourodynamic evaluation was fundamental for a correct diagnosis. Results Videourodynamic evaluation showed a high detrusor pressure during emptying phase, partial use of abdominal strain, very low urine flow rate and significant postvoid residual; imaging showed a defect in the physiological funneling of the bladder neck, absent or incomplete. The first step therapy is represented by oral alpha-blockers and clean intermittent self-catheterization in case of high postvoid residual. Surgical operations, such as bladder neck incision and resection, represent the last option. Conclusions In our experience, bladder neck obstruction is a rare condition in women and only a complete clinical evaluation associated with videourodynamic study can lead to an appropriate diagnosis and treatment.

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Tracheal agenesis in a new born: lessons learnt

BMJ Case Reports ◽

10.1136/bcr-2017-224003 ◽

2018 ◽

pp. bcr-2017-224003

Author(s):

P Naina ◽

Mary John ◽

Mohamed Abdul Kathar ◽

Manish Kumar

Keyword(s):

Clinical Presentation ◽

Treatment Options ◽

Correct Diagnosis ◽

Rare Condition ◽

Potential Treatment ◽

Tracheal Agenesis ◽

Future Studies ◽

Optimal Replacement ◽

Emergency Tracheostomy

Tracheal agenesis is a rare but fatal congenital tracheal malformation. Lack of prenatal symptom and a typical clinical presentation lead to failure to arrive at a correct diagnosis and confusion during resuscitation. We report a case of a newborn male child with type 2 tracheal agenesis. Despite a typical presentation, diagnosis was delayed after unsuccessful intubation, examination under anaesthesia and emergency tracheostomy. The embryology, diagnostic criteria and potential treatment options are discussed. This case report is valuable in increasing awareness of this rare condition and will help us in being better prepared in managing these children. Future studies should aim to find the optimal replacement for the tracheal.

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Delayed diagnosis of postcardiac injury syndrome

BMJ Case Reports ◽

10.1136/bcr-2018-228877 ◽

2019 ◽

Vol 12 (2) ◽

pp. bcr-2018-228877 ◽

Cited By ~ 1

Author(s):

Mitsushige Nishimura ◽

Naho Goda ◽

Keiko Hatazawa ◽

Kazuhiko Sakaguchi

Keyword(s):

Differential Diagnosis ◽

Pleural Effusion ◽

Pericardial Effusion ◽

Constrictive Pericarditis ◽

Case Reports ◽

Delayed Diagnosis ◽

Rare Condition ◽

Final Diagnosis ◽

Delay In Diagnosis ◽

Autoimmune Mechanism

Postcardiac injury syndrome (PCIS) is a rare condition that is considered to have a trauma-induced autoimmune mechanism triggered by damage to pericardial and/or pleural tissues. We report a case of PCIS accompanied by systemic oedema after thymectomy. A 73-year-old woman was referred to our hospital for dyspnoea and oedema, 9 months after thymectomy. Evaluation revealed the presence of pericardial effusion, pleural effusion and systemic oedema. Differential diagnosis included constrictive pericarditis (secondary to tuberculosis), serositis caused by collagen disease and malignancy. Detailed investigations led to the diagnosis of PCIS, which was successfully treated with prednisolone. This report focuses on the diagnostic approach to PCIS. Since it took time to make a final diagnosis in our patient, we analysed several past case reports and series to determine the cause of the delay in diagnosis.

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FDG-PET/CT Assessment of Pulmonary Sarcoidosis: A Guide for Internists

Current Medical Imaging Formerly Current Medical Imaging Reviews ◽

10.2174/1573405614666180528101755 ◽

2018 ◽

Vol 15 (1) ◽

pp. 21-25 ◽

Cited By ~ 1

Author(s):

Marco Tana ◽

Silvio di Carlo ◽

Marcello Romano ◽

Massimo Alessandri ◽

Cosima Schiavone ◽

...

Keyword(s):

Computed Tomography ◽

Fdg Pet ◽

Correct Diagnosis ◽

Pulmonary Sarcoidosis ◽

High Resolution Computed Tomography ◽

Inflammatory Conditions ◽

Positron Emission ◽

Pet Ct ◽

Noncaseating Granulomas ◽

Fdg Pet Ct

Background:18F-fluorodeoxyglucose positron emission tomography integrated with computed tomography (18-F-FDG-PET/CT) is getting wide consensus in the diagnosis and staging of neoplastic disorders and represents a useful tool in the assessment of various inflammatory conditions. </P><P> Discussion: Sarcoidosis is an uncommon disease characterized by the systemic formation of noncaseating granulomas. Lungs are the sites most often affected, and investigation with high resolution computed tomography and biopsy is essential to achieve a correct diagnosis. 18-F-FDGPET/ CT is effective in the assessment of pulmonary sarcoidosis by demonstrating pulmonary and extrathoracic involvement and findings correlate well with pulmonary function in patients affected.Conclusion:This review would illustrate the usefulness and limits of 18-F-FDG-PET/CT in the assessment of pulmonary sarcoidosis.

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Younger age of onset and uveitis associated with HLA-B27 and delayed diagnosis in Thai patients with axial spondyloarthritis

Scientific Reports ◽

10.1038/s41598-021-93001-5 ◽

2021 ◽

Vol 11 (1) ◽

Author(s):

Naphruet Limsakul ◽

Praveena Chiowchanwisawakit ◽

Parichart Permpikul ◽

Yubolrat Thanaketpaisarn

Keyword(s):

Regression Analysis ◽

Multiple Regression Analysis ◽

Axial Spondyloarthritis ◽

Age At Onset ◽

Delayed Diagnosis ◽

Musculoskeletal Symptom ◽

Hla B27 ◽

Delay In Diagnosis ◽

Factors Associated ◽

Younger Age

AbstractTo identify characteristics associated with HLA-B27, and to identify factors associated with delayed diagnosis in Thai patients with axial spondyloarthritis (axSpA). This cross-sectional study included Thai patients were diagnosed with axSpA by a rheumatologist at Siriraj Hospital. Clinical data were collected. Regression analyses were employed to identify factors associated with study outcomes. Of total 177 patients, 127 (72%) were positive HLA-B27. Uveitis [Odds ratio (OR) 4.0], age at onset of the first musculoskeletal symptom of ≤ 28 years [OR 3.5], female [OR 0.4], and psoriasis [OR 0.4] were significantly associated with HLA-B27 in multiple regression analysis. Those with positive HLA-B27 had less spinal flexibility. Elevated C-reactive protein (p = 0.012) was associated with shorter delay in diagnosis, while uveitis (p < 0.001) and younger age at onset of the first symptom (p = 0.002) were associated with longer delay in diagnosis in multiple regression analysis. Younger age at onset of the first musculoskeletal symptom and uveitis were associated with HLA-B27 and delayed diagnosis in axSpA patients. Young people with musculoskeletal symptom and uveitis should be referred to a rheumatologist to rule out or make a timely diagnosis of axSpA.

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