L-DOPA therapy interferes with urine catecholamine analysis in children with suspected neuroblastoma: a case series

Neuroblastoma is the most common solid extracranial malignancy diagnosed in childhood. Clinical presentation is variable, and metastatic disease is common at diagnosis. Analyses of urinary catecholamines and their metabolites are commonly requested as a first-line investigation when clinical suspicion exists. Levodopa (L-Dopa) therapy is utilized as a treatment for a number of disorders in childhood, including Dopa-responsive dystonia. Neuroblastoma may mimic some of the clinical features of this disorder. L-Dopa can interfere with analysis of urinary catecholamines and their metabolites and complicate the interpretation of results. We present the cases of three children who were prescribed L-dopa at the time of analysis of urinary catecholamines and metabolites as a screen for neuroblastoma, but who did not have the disease. Comparison of their results with those from cases with true neuroblastoma reveal that it is impossible to reliably distinguish true neuroblastoma from L-Dopa therapy using these tests. We recommend that patients should be off L-dopa therapy, if possible when these tests are performed. These cases illustrate the importance of providing clinical details and drug history to the laboratory in order to avoid diagnostic confusion.

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Vascular rings and slings: interesting vascular anomalies

The Journal of Laryngology & Otology ◽

10.1017/s0022215111001605 ◽

2011 ◽

Vol 125 (11) ◽

pp. 1158-1163 ◽

Cited By ~ 7

Author(s):

E Phelan ◽

S Ryan ◽

H Rowley

Keyword(s):

Clinical Presentation ◽

Vascular Ring ◽

Case Series ◽

Clinical Suspicion ◽

Vascular Rings ◽

Airway Symptoms ◽

Different Types ◽

Arch System ◽

Derivatives Of ◽

Prompt Diagnosis

AbstractIntroduction:A vascular ring refers to encirclement of the trachea and oesophagus by an abnormal combination of derivatives of the aortic arch system. These malformations can cause variable degrees of compression of the oesophagus, trachea or both. Symptoms can range from no effect to severe stridor, dyspnoea and/or dysphagia.Method and results:This study presents a case series of six patients treated over a six-year period (2003–2009), illustrating the features of four different types of vascular ring; these types are discussed in detail. The clinical presentation, radiology, and microlaryngoscopy and bronchoscopy findings are also discussed.Conclusion:The management of children with vascular rings requires a high index of clinical suspicion to ensure prompt diagnosis. As many of these children present with airway symptoms, the paediatric otolaryngologist plays a key role in identifying and assessing their anatomical anomalies.

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A report of two cases of myocarditis following mRNA COVID-19 vaccination

European Heart Journal - Case Reports ◽

10.1093/ehjcr/ytac004 ◽

2022 ◽

Author(s):

Christopher Paul Bengel ◽

Rifat Kacapor

Keyword(s):

Heart Failure ◽

Adverse Reaction ◽

Chest Pain ◽

Clinical Presentation ◽

Acute Myocarditis ◽

Rare Complication ◽

Case Series ◽

Clinical Suspicion ◽

Case Summary ◽

Causative Factors

Abstract Background Vaccination is the most important measure to control the coronavirus disease 2019 (COVID-19) pandemic. Myocarditis has been reported as a rare adverse reaction to COVID-19 vaccines. The clinical presentation of myocarditis in such cases can range from mild general symptoms to acute heart failure. Case summary We report the cases of two young men who presented with chest pain and dyspnoea following the administration of the mRNA COVID-19 vaccine. Cardiac investigations revealed findings typical of acute myocarditis. Discussion Myocarditis is a rare complication following mRNA COVID-19 vaccination. In this case series, the temporal proximity of the development of acute myocarditis and the administration of the mRNA COVID-19 vaccine was acknowledged. In the absence of other causative factors, myocarditis in these patients potentially occurred due to an adverse reaction to the mRNA COVID-19 vaccine. However, a causal relationship remains speculative. Clinical suspicion of myocarditis should be high if patients present with chest pain or dyspnoea after receiving COVID-19 vaccination.

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A new therapy for transthyretin amyloidosis, no longer an orphan condition

European Heart Journal Supplements ◽

10.1093/eurheartj/suaa077 ◽

2020 ◽

Vol 22 (Supplement_E) ◽

pp. E125-E131

Author(s):

Candida Cristina Quarta ◽

Anna Laura Tinuper ◽

Agnese Milandri ◽

Christian Gagliardi ◽

Giuseppe Caponeti ◽

...

Keyword(s):

Cardiac Dysfunction ◽

Clinical Presentation ◽

Accurate Estimate ◽

Clinical Suspicion ◽

Light Chains ◽

Wild Type ◽

First Line ◽

Transthyretin Amyloidosis ◽

Cardiac Amyloid ◽

Amyloid Cardiomyopathy

Abstract Amyloid cardiomyopathy is a condition characterized by intra-myocardial deposit of protein-like material, in fibrillar shape (amyloid), which presence determine a progressive thickening and stiffening of the cardiac walls leading to a cardiac dysfunction. The proteins most often involved with cardiac amyloid are the light chains of the immunoglobulin, typical of amyloidosis AL, and transthyretin, responsible for transthyretin amyloidosis, in both its forms, hereditary and wild type. An accurate estimate of the incidence of cardiac amyloidosis is still difficult due to the variety and complexity of the clinical presentation of the condition. Nonetheless, the condition has stimulated the interest of the scientific community, so that a specific diagnostic path has been developed, beginning from the clinical suspicion and first-line testing, such as electrocardiogram, echocardiogram, and blood work, to progress to the diagnostic confirmation using more sophisticated testing such as magnetic resonance, scintiscan, and eventually cardiac biopsy. To understand and recognize this condition is very important, stemming from the availability of ‘aetiology oriented therapies’ (designed to prevent, control and possibly regress amyloid deposition), which should be added to the ‘supportive therapies’, used for the treatment of the complication of the condition, namely heart failure.

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Clinical Presentation of Chronic Traumatic Encephalopathy

Seminars in Neurology ◽

10.1055/s-0040-1713624 ◽

2020 ◽

Vol 40 (04) ◽

pp. 370-383

Author(s):

Megan Mariani ◽

Michael L. Alosco ◽

Jesse Mez ◽

Robert A. Stern

Keyword(s):

Diagnostic Criteria ◽

Clinical Features ◽

Clinical Presentation ◽

Chronic Traumatic Encephalopathy ◽

Case Reports ◽

Case Series ◽

American Football ◽

Next Of Kin ◽

Motor Functioning

AbstractChronic traumatic encephalopathy (CTE) is a neurodegenerative disease associated with repetitive head impacts (RHI), such as those received in contact/collision sports, blast injury in military veterans, and domestic violence. Currently, CTE can only be diagnosed following death. Although the clinical features of former boxers have been described for almost a century, and there is increasing evidence of long-term cognitive and neuropsychiatric impairments in living former American football players, the specific clinical presentation associated with underlying CTE neuropathology remains unclear. These features include diverse and nonspecific changes in cognition, mood, behavior, and motor functioning. Currently, there are no validated and widely accepted clinical diagnostic criteria. Proposed criteria are primarily based on retrospective telephonic interviews with the next of kin of individuals who were diagnosed with CTE postmortem. Prospective studies involving individuals presumably at high risk for CTE are underway; these will hopefully clarify the clinical features and course of CTE, allow the diagnostic criteria to be refined, and lead to the development and validation of in vivo biomarkers. This article reviews what is currently known about the clinical presentation of CTE and describes the evolution of this knowledge from early case reports of “punch drunk” boxers through larger case series of neuropathologically confirmed CTE. This article concludes with a discussion of gaps in research and future directions to address these areas.

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Clinical Profile of nCOVID-19 Cases in Andaman and Nicobar Islands: A Case Series

JOURNAL FOR CLINICAL AND DIAGNOSTIC RESEARCH ◽

10.7860/jcdr/2020/45376.13963 ◽

2020 ◽

Author(s):

Shashank Singh ◽

KP Karun Mahesh ◽

Sushil K Sharma ◽

Mradul Kumar Daga ◽

Govind Mawari ◽

...

Keyword(s):

Clinical Features ◽

Clinical Presentation ◽

Descriptive Analysis ◽

Local Population ◽

Case Series ◽

Andaman And Nicobar Islands ◽

Disease Evolution ◽

History Of ◽

Nicobar Islands ◽

Close Contacts

nCOVID-19 (2019 novel corona virus) is a naive infective virus that brought the whole world to standstill. The clinical features attributing to its infection have a broad spectrum, ranging from minimally symptomatic to respiratory failure and death. The aim of present case series was to assimilate data regarding the clinical characteristics of first 11 cases of COVID-19 infection in the local population of Andaman and Nicobar Islands. Various clinical features, biochemical and individual parameters were compiled that may affect the disease evolution and then, subjected to descriptive analysis. Out of 11 patients, six patients had a definitive known source of their infection and four patients had history of close contacts with first six ones. Only one patient had unknown source of the infection. Majority of the patients remained asymptomatic to pauci-symptomatic. Mean duration of symptomatic period was less than seven days (5.6 days). In this series, out of 11 patients, 2 (18%) were females and rest all were males (82%). Four of the patients had fever, four had cough and four had weakness and fatigue, two had malaise, three had anorexia, one had dyspepsia and one diarrhea. None of the patient landed in Intensive care unit (ICU). Patients were treated with empirical combination therapy including Azithromycin (500 mg OD) and Oseltamivir (75 mg BD) irrespective of their symptoms. Additionally, Hydroxychloroquine (200 mg BD) was given to symptomatic ones. Conclusively, less dreadful clinical presentation of this infection was faced in this population.

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Clinical features and management strategies of Meningitis in adult patients: A hospital based study from Kuwait

Journal of Drug Delivery and Therapeutics ◽

10.22270/jddt.v11i3-s.4893 ◽

2021 ◽

Vol 11 (3-S) ◽

pp. 53-60

Author(s):

Suhail Al Shammri ◽

Arpita Chattopadhyay ◽

Geeti Chadha ◽

Ahmed Zayada ◽

Faisal Al Shaifan ◽

...

Keyword(s):

Clinical Features ◽

Clinical Presentation ◽

Management Strategies ◽

Positive Culture ◽

Viral Meningitis ◽

Antimicrobial Treatment ◽

Clinical Suspicion ◽

Adult Patients ◽

Diagnostic Challenge ◽

Neisseria Meningitides

Introduction: High mortality rate of meningitis has been reported in Kuwait, however, limited data is available describing this disease in adult patients. With this background, we conducted a prospective study on patients admitted with meningitis, with an objective to describe the risk factors, clinical presentation, disease course and outcome; focus given on diagnostic problems and consequent management difficulties. Methods: Our team diagnosed, managed and documented hospital records of patients (n=44) admitted with suspected meningitis at a referral hospital during 2010-12. Detailed information was collected regarding clinical presentation, CSF analysis, treatment, hospital course and outcome as per Glasgow Outcome Scale (GOS). Results: Bacterial, viral, and tuberculosis (TB) meningitis were seen in 22.8%, 52.3%, and 15.9% of patients. Clinical features of our cohort were consistent with available literature. Positive identification of organism by culture, gram stain, or antigen test was possible in only 6 patients i.e. Streptococcus pneumonae-(n=3), Streptococcus agalactiae-(n=2), Neisseria meningitides-(n=1). CSF polymerase chain reaction was detected positive for Enterovirus RNA, and Herpes simplex virus DNA for one patient each. Empirical antimicrobial treatment directed against common causative organisms was the mainstay of management of bacterial meningitis. Viral meningitis was managed symptomatically. TB meningitis patients were administered anti-tubercular treatment. As per GOS, 38(85.4%) patients recovered with no neurological deficit. Six patients recovered with mild to moderate deficit. Conclusion: Low positive culture rates and inability to identify pathogens have been a diagnostic challenge faced by our team. Strong clinical suspicion, early empiric antibiotic and dexamethasone therapy perhaps contributed to very good recovery in our study. Keywords: Meningitis, Kuwait, Clinical Suspicion, Antibiotic, Dexamethasone

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Variable Presentations of Tuberculosis during COVID-19 Pandemic- A Case Series

Journal of Medicine ◽

10.3329/jom.v22i1.51394 ◽

2021 ◽

Vol 22 (1) ◽

pp. 60-66

Author(s):

Mahbub Mayukh Rishad ◽

Sumaiya Akter ◽

Arfa Rahman ◽

Homayra Tahseen ◽

HAM Nazmul Ahasan ◽

...

Keyword(s):

Infectious Disease ◽

Clinical Features ◽

Broad Spectrum ◽

Private Hospital ◽

Tertiary Care ◽

Case Series ◽

Clinical Suspicion ◽

The Body ◽

Delay In Diagnosis

Tuberculosis is an ancient infectious disease, which can involve almost any organ of the body and can have broad spectrum of presentations. The objective of this case series presentation is to highlight the importance of considering Tuberculosis as a diagnosis even in this COVID pandemic time. It presents with wide variety of clinical features involving different organs and often potentially fatal. Mortality from tuberculosis is most often due to delay in diagnosis & thus starting treatment. Thus, treatment should be initiated immediately based on strong clinical suspicion. Here we have presented six different cases of TB where each case presented differently in a tertiary care private hospital of Dhaka. J MEDICINE JAN 2021; 22 (1) : 60-66

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CHRONIC BREAST INFECTIONS: CHALLENGING CONDITION TO DIAGNOSE AND TREAT; AN OVERVIEW OF 70 CASES

Pakistan Armed Forces Medical Journal ◽

10.51253/pafmj.v71i2.2705 ◽

2021 ◽

Vol 71 (2) ◽

pp. 401-04

Author(s):

Razia Bano ◽

Sohail Saqib Chatha ◽

Faiza Sana ◽

Humaira Latif ◽

Umar Farooq Chatha ◽

...

Keyword(s):

Clinical Features ◽

Clinical Presentation ◽

Management Strategies ◽

Case Series ◽

Military Hospital ◽

Granulomatous Mastitis ◽

Idiopathic Granulomatous Mastitis ◽

Diverse Range ◽

Incision And Drainage ◽

Common Clinical Presentation

Objective: To share our experience of clinical features and management strategies for treatment of chronic breast infections. Study Design: Case series. Place and Duration of Study: Combined Military Hospital Rawalpindi, from Feb 2016 to Feb 2018. Methodology: We prospectively enrolled patients with diagnosis of chronic breast infections over a period of two years. All patients with infections (less than one month old) were excluded from the study. We studied the demographic characteristics like age, clinical presentation, histopathological features, treatment given and response to the treatment. Results: A total of 70 patients were enrolled in the study. Patients age was between 21-75 years with mean age of 42 ± 5 years. Most common clinical presentation was lump and in duration with abscess in 23 (33%) cases, mass with discharging sinuses in 16 (23%) cases, while 7 (10%) cases had recurrent abscess. Diagnosis was made on core biopsy in 21 cases and in remaining cases with incision and drainage. Histopathology confirmed diagnosis of Idiopathic Granulomatous mastitis in 30 (43%) cases, acute on chronic mastitis in 27 (38%) and chronic granulomatous mastitis in 13 (18%) cases. Out of all cases 29 (41%) showed response to antibacterial treatment while 27 (38%) cases responded to anti tuberculous treatment. Spontaneous resolution occurred in 11 (16%) cases while 3 (4%) cases responded to antifungal treatment. Conclusion: Chronic breast infections are a challenging condition to diagnose and treat for breast surgeons and can present with diverse range of clinical features.

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Prognosis of leptomeningeal metastases from melanoma: A case series of 28 patients.

Journal of Clinical Oncology ◽

10.1200/jco.2017.35.15_suppl.e13550 ◽

2017 ◽

Vol 35 (15_suppl) ◽

pp. e13550-e13550

Author(s):

Sarah Oinino ◽

Isabelle Rodrigues ◽

Thomas Boulanger ◽

Charles Andre ◽

Jacques Bonneterre ◽

...

Keyword(s):

Targeted Therapy ◽

Metastatic Disease ◽

Systemic Treatment ◽

Case Series ◽

Braf Inhibitor ◽

Line Treatment ◽

First Line ◽

Melanoma Diagnosis ◽

Systemic Treatments ◽

First Line Treatment

e13550 Background: Leptomeningeal metastasis (LM) are reported in 5-25% of patients with melanoma. However, only very few large contemporary cohorts of melanoma patients with LM have been published. Methods: We report on a case series of 28 consecutive patients with LM from melanoma (BRAF mutated in 14 cases, of 19 tested) diagnosed between April 2007 and April 2016, and treated for LM using a combination of systemic treatment, intra-cerebrospinal fluid (CSF) therapy and radiotherapy according to prior treatments and the presentation of LM. Results: The median age at LM diagnosis was 49.5 years (range 27-73). Median ECOG-performance status was 2 (0-4). Concomitant brain metastases were present in all but 4 patients at LM diagnosis. LM was the first site of metastatic disease for only 2 patients. Median time from melanoma diagnosis to LM diagnosis was 0.33 years in patients with metastatic disease at melanoma diagnosis (4 patients) and 4.5 years in patients without metastatic disease at melanoma diagnosis (24 patients). First line treatment for LM was a combination of intra-CSF (liposomal cytarabine) and systemic treatments in 25 cases, and systemic treatment alone in 3 cases. Systemic treatments include chemotherapy (n = 18), targeted therapy (BRAF inhibitor n = 9; MEK inhibitor, n = 3) and immunotherapy (n = 4). No radiotherapy was performed. Ten patients received more than one line of treatment for LM. Median progression-free survival with first line treatment was 1.75 months. Responses or stabilization (for at least 2 months) were observed in only 7 patients. Median overall survival (OS) for the whole cohort was 3.08 months. Conclusions: The prognosis of patients with LM from melanoma remains poor. The role of new agents such as targeted therapies and immunotherapy for the treatment of LM is still not well defined. Adequate use of intrathecal chemotherapy, targeted therapy and immunotherapy could improve the survival of these patients.

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Reconsidering NMIHBA Core Features: Macrocephaly Is Not a So Unusual Sign in PRUNE1-Related Encephalopathy

Journal of Pediatric Neurology ◽

10.1055/s-0040-1715526 ◽

2020 ◽

Author(s):

Roberta Battini ◽

Enrico Bertini ◽

Roberta Milone ◽

Chiara Aiello ◽

Rosa Pasquariello ◽

...

Keyword(s):

Nervous System ◽

Differential Diagnosis ◽

Clinical Features ◽

Neurodevelopmental Disorder ◽

Recurrent Mutation ◽

Clinical Suspicion ◽

Alexander Disease ◽

Brain Anomalies ◽

Progressive Encephalopathy ◽

Core Features

Abstract PRUNE1-related disorders manifest as severe neurodevelopmental conditions associated with neurodegeneration, implying a differential diagnosis at birth with static encephalopathies, and later with those manifesting progressive brain damage with the involvement of both the central and the peripheral nervous system.Here we report on another patient with PRUNE1 (p.Asp106Asn) recurrent mutation, whose leukodystrophy, inferior olives hyperintensity, and macrocephaly led to the misleading clinical suspicion of Alexander disease. Clinical features, together with other recent descriptions, suggest avoiding the term “microcephaly” in defining this disorder that could be renamed “neurodevelopmental disorder with progressive encephalopathy, hypotonia, and variable brain anomalies” (NPEHBA).

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