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2022 ◽  
Vol 13 (1) ◽  
pp. 77-81
Author(s):  
Maha Mouradi ◽  
Fatima Zahra Elfatoiki ◽  
Fouzia Hali ◽  
Farida Mernissi ◽  
Sara Moukhlis ◽  
...  

Cutaneous angiosarcoma is a rare and highly aggressive neoplasm with poor prognosis. Owing to its variable presentation, it may be a challenging clinical and histological diagnosis. Herein, we describe a particular case of cutaneous angiosarcoma of the head and neck in a 71-year-old male with skin type V who presented with solid, progressive eyelid edema. A histological examination of skin biopsies first concluded cutaneous metastasis of an undifferentiated carcinomatous tumor. Immunostaining was essential to reach the correct diagnosis. The treatment of cutaneous angiosarcoma remains unsatisfactory. We sincerely hope that the prognosis of cutaneous angiosarcoma will be improved with the use of targeted therapies based on current genetic studies as it has been for melanoma.


2022 ◽  
Vol 14 (1) ◽  
pp. e2022002
Author(s):  
Madeha Abdalla Sayed ◽  
Mohamed Abdelhakeem

Back ground: A novel coronavirus which is identified as cause of pandemic situation inFebruary2020 and affecting adult and children with variable presentation and outcome. Objective: We studied the typical and atypical clinical and laboratory presentation of COVID-19 during the peak of the first wave   in two main  referral hospitals, upper Egypt El Minya governorate. Methods:  Among 88 children with suspected cases  tested for COVID-19, only 22 who proved to be  positive. Studied patients were classified into 3 groups based on age. The first group 2–5years,the second for 5–10years and the third one included those aged more than 10 years. All patients met diagnostic guidelines established by Egyptian Ministry of health. Results: out of the positive 22 (25%) patients, 13(59.1%) of them were male, while 9 (40.9%) were females. All enrolled patients have a history of near contact exposure (100%). Thrombocytopenia was the highest presenting symptom in all enrolled patients18(81.8%), while other hematological findings were anemia in 11 (50%), thrombotic symptoms in 2(9.1%), pancytopenia in 2(9.1%) while bleeding was found in 1 patient (4.5%) .Fever 16 (72.7%) the common constitutional symptoms in COVID-19 were not reported in all enrolled patients (0%) while sore throat was reported in only 2 patients (9.1%).Respiratory presentation was only dominant in positive chest CT finding rather than clinical symptoms 17(72.3%) GIT symptom were the dominant presenting feature as vomiting was found in 15 (68.2%), diarrhea in 10 (45.5%), abdominal pain in 11 (50%), jaundice in 9 (40.9%) and dehydration in 6 (27.3%).Neurological symptoms were convulsions in 4(18.2%) while encephalopathy was 2(9.1%).Nephritis was the only renal presentation in the enrolled patients3 (13.6%).Cardiac presentations were only cyanosis 8 (36.4%) and arrhythmias 6 (27.3%) Conclusion: COVID-19 has many clinical  classic presentation in children  however  other non-typical presentation like hematological. CNS and renal presentation has been reported.   


2021 ◽  
Vol 9 (12) ◽  
pp. 643-646
Author(s):  
Naga Karthik Garikaparti ◽  
◽  
Pavankumar Nimmala ◽  
Tata Kamala Priya ◽  
Dharmapuri Jahnavi ◽  
...  

Meckels Diverticulum can present as umbilical cord infection which mimicking an umblical granuloma. A 1 month, old infant had presented with herniated bowel loops, following an ultrasound procedure. The purpose of the report is to highlight on variable presentation of Meckels Diverticulum in a suspected case of umblical granuloma.


Author(s):  
Olga Vriz ◽  
Hani AlSergani ◽  
Ahmed Nahid Elshaer ◽  
Abdullah Shaik ◽  
Ali Hassan Mushtaq ◽  
...  

Hypertrophic cardiomyopathy (HCM) is a group of heterogeneous disorders that are most commonly passed on in a heritable manner. It is a relatively rare disease around the globe, but due to increased rates of consanguinity within the Kingdom of Saudi Arabia, we speculate a high incidence of undiagnosed cases. The aim of this paper is to elucidate a systematic approach in dealing with HCM patients and since HCM has variable presentation, we have summarized differentials for diagnosis and how different subtypes and genes can have an impact on the clinical picture, management and prognosis. Moreover, we propose a referral multi-disciplinary team HCM-Family Unit in Saudi Arabia and an integrated role in a network between King Faisal Hospital and Inherited and Rare Cardiovascular Disease Unit-Monaldi Hospital, Italy (among the 24 excellence centers of the European Reference Network (ERN) GUARD-Heart).   Graphical Abstract


Author(s):  
Amit Kumar Verma ◽  
Anil Rawat ◽  
Siddharth Mishra ◽  
Nitin Arun Dikshit

Truncus arteriosus (TA) is a rare congenital cardiac anomaly caused by failure of normal conotruncal septation during the fetal development. This aberration leads to a common ventricular outflow artery over the malaligned large ventricular septal defect (VSD), supplying systemic, coronary and pulmonary circulation. People with such anomalous anatomy show variable presentation from early childhood to adult life depending on the severity of defects. We here present three cases of truncus arteriosus with aortic interruption / hypoplasia-coarctation (type A4 truncus arteriosus) with focus on relevant dual source MDCTA findings.


2021 ◽  
Vol 2021 ◽  
pp. 1-4
Author(s):  
James L. Laws ◽  
Esther Kim ◽  
Rebecca Hung ◽  
JoAnn Lindenfeld ◽  
Richa Gupta

Drug-induced myocarditis is a rare, but underrecognized complication of clozapine therapy for schizophrenia. We present a case of clozapine-induced myocarditis with recovery of cardiac function after drug cessation and summarize the literature to highlight the variable presentation of this condition.


2021 ◽  
Vol 33 (1) ◽  
pp. 89-93
Author(s):  
Mahbub Mayukh Rishad ◽  
Sumaiya Akter ◽  
Mohammad Zahiruddin

Brucellosis is a Zoonotic disease which is not so common health problem in Bangladesh. For its variable presentation it creates diagnostic challenge for the clinicians. Although Brucellosis is a treatable and curable condition sometimes delay in diagnosis and lack of insight for the disease creates high morbidity. In this case report we have presented a case of brucellosis presented with prolong fever, joint pain with complications which created dilemma in diagnosis in a tertiary care private hospital of Dhaka. The purpose of presenting this case report is to create concern among the clinicians regarding the variablepresentation of Brucellosis& emphasizing to clinical judgment over investigations, especially in limited resources. Bangladesh J Medicine July 2022; 33(1) : 89-93


2021 ◽  
Vol 14 (10) ◽  
pp. e245449
Author(s):  
Barun Kumar Singh ◽  
Samrat Ray ◽  
Shashi Dhawan ◽  
Samiran Nundy

The article presents a series of four patients with primary anorectal melanoma presenting to our institute between 2016 and 2021. The primary objective of the series is to give an overview of the variable presentation of this rare entity from a high-volume colorectal tertiary care centre in a developing country. The patients ranged in age from 55 to 73 years and were mostly women (except one). The clinical presentation varied from bleeding per rectum to tenesmus and mucus in stools, overlapping with those of inflammatory bowel disease and primary anorectal adenocarcinoma. All patients were treated with surgery (laparoscopic or open), ranging from local excision to abdominoperineal resection. All our patients had a good outcome after surgery with no mortality at 30 or 90 days after surgery. The article aims to present a comprehensive overview of the various options of management with evidence from the surgical literature.


2021 ◽  
Vol 59 (241) ◽  
pp. 938-941
Author(s):  
Kushal Gautam ◽  
Sangharsha Thapa ◽  
Anu Radha Twayana ◽  
Lokendra Chhantyal ◽  
Puskar Poudel ◽  
...  

Klippel-Trenaunnay Syndrome is a rare disease characterized by a clinical triad of capillary malformation, soft tissue and bony hypertrophy, and atypical varicosity. This syndrome ranges from asymptomatic disease to life-threatening bleeding, embolism, and deformities. Management includes early diagnosis, prevention, and treatment of complications. We present a case of a 43-year-old male presenting with pain, swelling and deformity of the right leg for 30 years. On examination, diffusely enlarged tender right limb with several dark patchy discolorations, multiple tortuous vessels were found. Right leg X-ray showed heterotrophic ossification and distortion of ankle joint. Due to chronic severe pain, recurrent infection, contracture and flexion deformity of right leg, the patient underwent above knee amputation. This case focuses on the variable presentation and multiple problems faced by patients with Klippel-Trenaununay Syndrome as they get diagnosed late and shows the importance of high index of suspicion for early diagnosis and prevention of complications.


Author(s):  
Andrew B. Dicks ◽  
Heather L. Gornik ◽  
Xiaokui Gu ◽  
J. Michael Bacharach ◽  
Natalia Fendrikova Mahlay ◽  
...  

Background Fibromuscular dysplasia (FMD) is a nonatherosclerotic arterial disease that has a variable presentation including pulsatile tinnitus (PT). The frequency and characteristics of PT in FMD are not well understood. The objective of this study was to evaluate the frequency of PT in FMD and compare characteristics between patients with and without PT. Methods and Results Data were queried from the US Registry for FMD from 2009 to 2020. The primary outcomes were frequency of PT among the FMD population and prevalence of baseline characteristics, signs/symptoms, and vascular bed involvement in patients with and without PT. Of 2613 patients with FMD who were included in the analysis, 972 (37.2%) reported PT. Univariable analysis and multivariable logistic regression were performed to explore factors associated with PT. Compared with those without PT, patients with PT were more likely to have involvement of the extracranial carotid artery (90.0% versus 78.6%; odds ratio, 1.49; P =0.005) and to have higher prevalence of other neurovascular signs/symptoms including headache (82.5% versus 62.7%; odds ratio, 1.82; P <0.001), dizziness (44.9% versus 22.9%; odds ratio, 2.01; P <0.001), and cervical bruit (37.5% versus 15.8%; odds ratio, 2.73; P <0.001) compared with those without PT. Conclusions PT is common among patients with FMD. Patients with FMD who present with PT have higher rates of neurovascular signs/symptoms, cervical bruit, and involvement of the extracranial carotid arteries. The coexistence of the 2 conditions should be recognized, and providers who evaluate patients with PT should be aware of FMD as a potential cause.


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