scholarly journals Pompe Disease Could Mimic Exam Findings of Amyloidosis: Two Rare Diagnoses Bona Fide

2018 ◽  
Vol 2018 ◽  
pp. 1-4
Author(s):  
Jithma P. Abeykoon ◽  
Narjust Duma ◽  
Jennifer A. Tracy ◽  
Margherita Milone ◽  
Ronald Go
Keyword(s):  
Pompe Disease ◽  
Clinical Presentation ◽  
Signs And Symptoms ◽  
Proximal Muscle ◽  
Wild Type ◽  
Physical Finding ◽  
Transthyretin Amyloidosis ◽  
Extensive Evaluation ◽  
History Of ◽  
Bona Fide

A 70-year-old female presented with a three-year history of evolving macroglossia causing dysphagia and dysarthria, with proximal muscle weakness. Given the classic physical finding of macroglossia, the patient underwent extensive evaluation for amyloidosis which proved to be negative apart from a bone marrow biopsy which stained positive for transthyretin without amino acid sequence abnormality, thus giving wild-type transthyretin amyloidosis. Since the wild-type transthyretin amyloidosis could not entirely explain her clinical presentation and evaluation, further studies were conducted in a sequential manner, thus leading to a diagnosis of Pompe disease explaining her presenting signs and symptoms including her macroglossia. Through this fascinating case, we attempt to highlight the approach for the diagnoses of two rare diseases in a patient by emphasizing the importance of having a broad differential diagnosis when presented with findings which may have been thought as pathognomonic for certain diseases.

scholarly journals Hospital based study of demography and clinical picture of vernal keratoconjunctivitis

2017 ◽  
Vol 6 (1) ◽  
pp. 65 ◽  
Author(s):  
Maneesha Sethi ◽  
Ridham Nanda ◽  
Amarjeet Singh Bali ◽  
P. Sadhotra
Keyword(s):  
Mixed Type ◽  
Clinical Presentation ◽  
Signs And Symptoms ◽  
Vernal Keratoconjunctivitis ◽  
Female Ratio ◽  
Northern India ◽  
Department Of Ophthalmology ◽  
Male Female Ratio ◽  
History Of ◽  
Ocular Morbidity

Background: Vernal Keratoconjunctivitis (VKC) is common cause of ocular morbidity in children living in tropical countries. Its diagnosis is based on signs and symptoms of the disease. The study was undertaken to stress upon the demography and clinical presentation of VKC.Methods: Retrospective pre-formed proforma of 155 patients of VKC, who were detected at random in the out - patient department of ophthalmology, ASCOMS, Jammu from May 2016 to April 2017, were analyzed.Results: Mean age at presentation was 10.31 years +4.05. The Male: Female ratio was 4.96:1. Majority of patients reported in the month of May. Mixed type of VKC was predominant. Personal or family history of allergy was seen in 5.8% of patients. Itching (100%) was commonest symptom and palpaberal papillae were commonest sign seen in 78.70% of patients.Conclusions: Clinical pattern of VKC seen in hot and dry climate of Northern India is like that seen in other parts of country.

scholarly journals A Stratified Approach for Cushing’s Syndrome Diagnosis

2019 ◽  
Vol 11 (10) ◽  
pp. 55
Author(s):  
Mervin Chavez ◽  
Joselyn Rojas ◽  
Miguel Aguirre ◽  
Marjorie Villalobos ◽  
Juan Salazar ◽  
...  
Keyword(s):  
Clinical Presentation ◽  
Clinical Signs ◽  
Signs And Symptoms ◽  
Proximal Muscle ◽  
Diagnostic Challenge ◽  
Adequate Treatment ◽  
Primary Origin ◽  
Cutaneous Atrophy ◽  
Buffalo Hump

Cushing’s syndrome is an endocrine disorder broadly renowned as a diagnostic challenge. From the initial clinical presentation up to the identification of the underlying etiology, it is necessary to adhere to a logical and stratified plan of action, directed to the correlation of signs and symptoms to the physiopathology of the syndrome, in order to accurately establish a diagnosis and adequate treatment. From stages as early as the patient’s first clinical evaluation, the physician should be specially attentive of a constellation of clinical signs which strongly suggest the diagnosis of Cushing’s syndrome, such as the presence of a “moon face”, a “buffalo hump”, cutaneous atrophy, proximal muscle weakness and purplish cutaneous striae, among others. Based off these findings, laboratory analyses are necessary for the detection of hypercortisolism. According to these results, and if physiologic causes are ruled out, pathologic hypercortisolism is confirmed. Lastly, a complex array of diagnostic tests must be navigated to identify the primary origin of the disorder. Thus, the diagnosis of Cushing’s syndrome requires a logically structured algorithm of action, constructed off its pathophysiologic implications, in order to optimize time, resources and the interdisciplinary workgroup required for its consecution, and offer patients the possibility of a better quality of life. It is also important to highlight the need for a stratified approach in patients with metabolic disturbance given that medical professionals may simply treat the patient for obesity not recognizing the presence of the complicating condition Cushing’s syndrome.

scholarly journals COVID-19 in Patients With Seizures and Epilepsy: Interpretation of Relevant Knowledge of Presenting Signs and Symptoms

2020 ◽  
Vol 20 (5) ◽  
pp. 312-315
Author(s):  
Robert Edward Hogan ◽  
Zachary Grinspan ◽  
Erika Axeen ◽  
Belinda Marquis ◽  
B. Keith Day
Keyword(s):  
Cohort Studies ◽  
Clinical Presentation ◽  
Epileptic Seizures ◽  
Signs And Symptoms ◽  
Diagnostic Information ◽  
Neurological Involvement ◽  
Disease Course ◽  
Relative Lack ◽  
History Of ◽  
Patients With Epilepsy

There are an increasing number of clinical studies for COVID-19, with several large cohort studies documenting initial signs and symptoms. Realizing the need for current information, this summary provides a focused summary of pertinent clinical diagnostic information about neurological involvement of SARS-CoV-2 virus and clinical presentation of COVID-19, especially in relationship to patients with seizures and epilepsy. There is no evidence from cohort studies in the general population that seizures are worsened in COVID-19. However, relative lack of cohort studies in patients with a history of epileptic seizures limit conclusions about effects of COVID-19 patients with epilepsy. Overall, findings indicate seizures and epilepsy are rare, especially in mild COVID-19 cases, but may occur in more severe cases later in the disease course. Caregivers should be vigilant in assessing for possible seizures, especially in patients with systemic effects of severe COVID-19 infections.

scholarly journals Pelvic and Bladder Catecholamine-Producing Tumors: A Review of the Literature

2019 ◽  
Author(s):  
Luigi Petramala ◽  
Valeria Bisogni ◽  
Federica Olmati ◽  
Antonio Concistrè ◽  
Monia Celi ◽  
...  
Keyword(s):  
Clinical Presentation ◽  
Case Reports ◽  
Bladder Neoplasms ◽  
Signs And Symptoms ◽  
Review Of The Literature ◽  
Current Management ◽  
Prisma Statement ◽  
History Of ◽  
Biochemical Remission ◽  
Prompt Diagnosis

Abstract Background Although PGLs may arise at any site where physiologic paraganglionic tissue exists, pelvic origins are not frequent (about 2%), and the most common localization is the retroperitoneal space, whereas bladder PGLs account for less than 0.06% of all bladder neoplasms and less than 1% of all PGLs. Starting from the description of two interesting our cases, we wondered to review the literature on pelvic and bladder paragangliomas (PGLs) with the aim of illustrating clinical characteristics and current management, and enlightening the needed of a prompt diagnosis to avoid the onset of several complications.Methods We herein performed a brief review of the literature about pelvic PGLs in the PubMed library, conducted according to the PRISMA statement, including studies published from 1954 to 2019. We also discuss clinical presentation, morphologic appearance, and management of two cases of pelvic PGL, both of them characterized by a history of paroxysmal high blood pressure episodes uncontrolled by antihypertensive therapy associated with disabling symptoms, misdiagnosed for many years.Results Overall, we evaluated 108 case reports. The majority were females, presenting typical signs and symptoms, such as arterial hypertension (54.2%), hematuria (35.1%), and headache (33.6%). After treatment, the clinical and biochemical remission was showed in only 55% of analyzed cases.Conclusions For their singular localization, pelvic and bladder PGLs often might be misdiagnosed. The resulting delay in the proper treatment could be responsible for the relative low percentage of complete clinical and biochemical remission.

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

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.

Multiple Metatarsal Fractures: The First Manifestation of Cushing's Disease—A Case Report

2021 ◽  
Vol 111 (3) ◽  
Author(s):  
Vilim Molnar ◽  
Paulo Zekan ◽  
Tina Dušek ◽  
Alan Ivković
Keyword(s):  
Case Report ◽  
Cushing’S Syndrome ◽  
Cushing’S Disease ◽  
Signs And Symptoms ◽  
Cushing's Syndrome ◽  
Cushing's Disease ◽  
Proximal Muscle ◽  
Metatarsal Fractures ◽  
Foot Fracture ◽  
History Of

Cushing's syndrome is an uncommon clinical condition most frequently presenting with central obesity, facial rounding, proximal muscle weakness, and skin thinning. The objective of this case report is to highlight an unusual presentation of Cushing's syndrome. A 35-year-old woman presented to the orthopedic clinic with a 1-year history of foot pain without any history of trauma. Radiography of the foot showed multiple metatarsal fractures. Evaluation for secondary causes of reduced bone strength revealed that the patient had Cushing's disease, although other typical signs and symptoms were not remarkable. It can be concluded that Cushing's syndrome should always be included in the differential diagnosis of foot fracture without any evidence of trauma.

scholarly journals Clinico- etiological profile of acute poisoning and intoxication in children in western Nepal

2021 ◽  
Vol 8 (10) ◽  
pp. 1643
Author(s):  
Love K. Sah ◽  
Munu Mahat ◽  
Prince Pareek ◽  
Ram P. Pokhrel ◽  
Reema Garegrat
Keyword(s):  
Clinical Presentation ◽  
Signs And Symptoms ◽  
Acute Poisoning ◽  
Acute Onset ◽  
Accidental Poisoning ◽  
Emergency Physicians ◽  
Medical College ◽  
Different Types ◽  
Common Clinical Presentation ◽  
History Of

Background: Pediatric poisoning is a common emergency. The present study was done to assess the incidence, clinico-etiological profile of acute poisoning and intoxication in children.Methods: This study was conducted in the Department of Pediatrics, Lumbini Medical College and Teaching Hospital, Nepal in which children aged less than 18 years, with history of consumption of poison accompanied or unaccompanied by container or poison or with doubtful history of consumption of poison but with definite signs and symptoms of acute poisoning we included. We also included children with history of bites by poisonous creatures like snakes, scorpions, bees and insects or with doubtful history of bites due to poisonous creatures but with definite acute onset of signs and symptoms locally or systemically.Results: In the present study, during the study duration, 68 children were included. The most common age group of included children was 1 to 5 years (59%). Accidental poisoning was reported in 93% of the cases, while the rest had suicidal poisonings. The most common type of poison used were different types of pesticides (46%). We observed that vomiting was the most common clinical presentation (79%). In our study sample, arrival of 46% of the children was delayed by 30 minutes to 2 hours. Majority of the patients arrived in the afternoon to the hospital (51%).Conclusions: The findings of the present study would enable emergency physicians to identify clinical features of common poisonings among children, which would enable manage the cases better.

scholarly journals Pseudotumor cerebri secondary to secondary hypoparathyroidism and association to Fahr´s yndrome: a case report

2020 ◽  
pp. 68-71
Author(s):  
Patrick Giordanni Gomes Sampaio ◽  
Hiago Diniz Maracajá ◽  
Francielle Lopes de Araújo Batista ◽  
Virgínia Gabriela Nóbrega Figueiredo ◽  
Nátalia Meg Adijuto de Melo
Keyword(s):  
Case Report ◽  
Clinical Presentation ◽  
Nodular Goiter ◽  
Signs And Symptoms ◽  
Pseudotumor Cerebri ◽  
Horizontal Position ◽  
History Of ◽  
Grade 3 ◽  
Orthostatic Position ◽  
Almost All

Introduction Headaches are extremely common complications in emergency departments, accounting for up to 16% of visits, according to some studies and are observed in almost all patients with Idiopathic Intracranial Hypertension (IIH), which is characterized by signs and symptoms that include, in addition to headache, nausea, vomiting, diplopia, decreased visual acuity, pulsatile tinnitus, back and neck pain, among other possible manifestations. However, the clinical presentation is highly variable, which can delay diagnosis. Case report A.T.F, female, 33 years old, BMI 40.17 kg / m², with grade 3 obesity, caucasian, single, with Down Syndrome. Presents a history of post-surgical hypothyroidism, whose thyroidectomy was performed 10 years ago, due to nodular goiter. This patient presented subacute nausea, visual turbidity, diarrhea and pulsatile holocranial headache, which worsened in the horizontal position and presented slight relief in the orthostatic position. Conclusion The conduct of Fahrs Syndrome, in this case, was focused on the treatment of hypoparathyroidism and which consists of correcting metabolism disorders of phosphorus and calcium, which naturally resulted in clinical and radiological improvement, however, without definitive resolution of the condition.

scholarly journals 110 Sex-related differences in clinical presentation and outcome of patients with cardiac transthyretin amyloidosis and light chain amyloidosis

2021 ◽  
Vol 23 (Supplement_G) ◽  
Author(s):  
Mattia Zampieri ◽  
Alessia Argirò ◽  
Marco Allinovi ◽  
Luigi Tassetti ◽  
Chiara Zocchi ◽  
...  
Keyword(s):  
Light Chain ◽  
Cardiac Amyloidosis ◽  
Clinical Presentation ◽  
Nyha Class ◽  
Interventricular Septum ◽  
University Hospital ◽  
Wild Type ◽  
Transthyretin Amyloidosis ◽  
Light Chain Amyloidosis ◽  
Different Types

Abstract Aims We aimed to ascertain whether sex-related differences are relevant to the pathophysiology, presentation, and outcomes in different types of cardiac amyloidosis—a field still poorly investigated. Medical files from consecutive patients diagnosed with cardiac amyloidosis between 2000 and 2020, at Careggi University Hospital, were retrospectively evaluated. Methods and results Over this period, 259 patients (12% females) were diagnosed with wild type transthyretin amyloidosis (wtATTR), 52 (25% females) with hereditary transthyretin amyloidosis (hATTR) and 143 (47% females) with light chain amyloidosis (AL). Wt-ATTR women, compared to men, were significantly older at the time of diagnosis and showed higher National Amyloidosis Centre score, thicker normalized interventricular septum, higher diastolic dysfunction and worse right ventricular function. Females with hATTR and AL had lower normalized cardiac mass compared to men. Otherwise, bio-humoural parameters, NYHA class, and ECG characteristics were similar. No differences in outcome were observed with regard to sex. Conclusions In conclusion, we did not observe major differences in clinical expression related to sex in different types of cardiac amyloidosis: specifically, outcome was not affected. Nevertheless, women with wtATTR showed a worse profile at diagnosis and evidence suggesting a later recognition of disease compared to men, highlighting the need for a higher index of suspicion in female patients.

scholarly journals Pelvic and Bladder Catecholamine-Producing Tumors A Review of the Literature

2019 ◽  
Author(s):  
Luigi Petramala ◽  
Valeria Bisogni ◽  
Federica Olmati ◽  
Antonio Concistrè ◽  
Monia Celi ◽  
...  
Keyword(s):  
Clinical Presentation ◽  
Case Reports ◽  
Bladder Neoplasms ◽  
Signs And Symptoms ◽  
Review Of The Literature ◽  
Current Management ◽  
Prisma Statement ◽  
History Of ◽  
Biochemical Remission ◽  
Prompt Diagnosis

Abstract Background Although PGLs may arise at any site where physiologic paraganglionic tissue exists, pelvic origins are not frequent (about 2%), and the most common localization is the retroperitoneal space, whereas bladder PGLs account for less than 0.06% of all bladder neoplasms and less than 1% of all PGLs. Starting from the description of two interesting our cases, we wondered to review the literature on pelvic and bladder paragangliomas (PGLs) with the aim of illustrating clinical characteristics and current management, and enlightening the needed of a prompt diagnosis to avoid the onset of several complications.Methods We herein performed a brief review of the literature about pelvic PGLs in the PubMed library, conducted according to the PRISMA statement, including studies published from 1954 to 2019. We also discuss clinical presentation, morphologic appearance, and management of two cases of pelvic PGL, both of them characterized by a history of paroxysmal high blood pressure episodes uncontrolled by antihypertensive therapy associated with disabling symptoms, misdiagnosed for many years.Results Overall, we evaluated 108 case reports. The majority were females, presenting typical signs and symptoms, such as arterial hypertension (54.2%), hematuria (35.1%), and headache (33.6%). After treatment, the clinical and biochemical remission was showed in only 55% of analyzed cases.Conclusions For their singular localization, pelvic and bladder PGLs often might be misdiagnosed. The resulting delay in the proper treatment could be responsible for the relative low percentage of complete clinical and biochemical remission.

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