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Pompe disease, a rare autosomal recessive disorder, is caused by mutations in the acid α-glucosidase gene. Pompe disease is a congenital metabolic disorder that affects all organs, particularly the striated mu...
Vertebral artery compression syndrome is a rare condition defined as the clinical presentation of dizziness, vertigo, ataxia, dysarthria, dysphagia, progressive or acute paralysis, hemisensory loss, and cervic...
Glycogen storage disease type 5 (McArdle disease) leads to a deficiency in the activity of myophosphorylase resulting in an impaired glucose utilization. The disease can be caused by a variety of mutations in ...
Hydatid disease is a zoonotic infection caused by the species Echinococcus that typically affects the liver. Most liver hydatid cysts are asymptomatic at first, but as the cyst grows larger, symptoms, such as com...
Primary aldosteronism is characterized by high plasma aldosterone and low renin. The plasma aldosterone-to-renin ratio is recommended for screening. Severe hydronephrosis leads to renal parenchymal ischemia, r...
While statistically rare in comparison to other head and neck tumours, parotid gland swellings are often encountered in clinical practice where one of the primary goals of examination becomes distinction betwe...
Meningiomas are common central nervous system tumors, predominantly intracranial, they rarely develop extracranially. Moreover, benign meningiomas seldom metastasize.
Appendicitis is a common cause of acute abdomen. Rarely, it may form adhesions to nearby structures, complicating surgeries, especially when involving vascular structures such as the internal iliac artery, pot...
Pericardial cysts, though rare and benign, can present with various clinical symptoms depending on their size and location in the body. The detection of these cysts typically relies on imaging studies for a co...
Perivascular epithelioid cell tumors are uncommon mesenchymal tumors. The genital tract is the most common extrarenal location. Preoperative diagnosis is rarely achieved owing to non-specific symptoms and imag...
Functional neurological disorder challenges conventional medical understanding, presenting neurological symptoms without organic explanations. This report delves into the intricate interplay between psychologi...
Refsum disease is a rare autosomal recessive hereditary disorder of lipid metabolism that results in the accumulation of phytanic acid. This syndrome is characterized with a range of classic symptoms including...
Tenosynovial giant cell tumor is a rare soft tissue tumor of the synovium of joint, bursae, or tendon sheath. It is divided into localized or diffuse types on the basis of the growth pattern. Localized tenosyn...
Plasma levels of d-dimer are elevated in patients with thromboembolisms. Here we investigated the existence of interfering antibodies as a potential cause for elevated d-dimer levels.
Nintedanib is a primary antifibrosing medication available for idiopathic pulmonary fibrosis, systemic sclerosis-interstitial lung disease, and progressive pulmonary fibrosis, with scattered report of drug-ind...
Methotrexate is an essential medicine used to treat childhood malignancies including acute lymphoblastic leukemia. Neurotoxicity manifesting as leukoencephalopathy is an important adverse effect of methotrexat...
Clinical amyopathic dermatomyositis is characterized by cutaneous symptoms but lacks muscle symptoms. Anti-melanoma differentiation-associated gene 5 antibodies are frequently found in Japanese patients with c...
B-Raf mutation positivity, B-Raf mutation positivity occurrence with programmed death ligand 1 overexpression, and musculoskeletal metastasis are singly rare in non-small cell lung cancer, and even rarer is all o...
Liver transplantation in pediatric patients is a crucial intervention for treating end-stage hepatic diseases. Despite significant advances in surgical techniques and postoperative care, complications remain a...
Fibroepithelial polyps are rare benign lesions with uncertain origins. They are commonly found in the skin and genitourinary system. Fibroepithelial polyps in the external auditory canal are infrequent.
Morphine is widely used to treat moderate-to-severe cancer pain. However, it causes various adverse effects, with morphine-induced fever being an extremely rare and poorly understood symptom.
Infective endocarditis is an uncommon but well-known post-transplant complication with significant morbidity and mortality. It has been observed to be about 171 times more common in solid organ transplant pati...
Worldwide, there is an increase in the frequency of reports of psoas abscesses due to advances in imaging technology, which has led to early diagnosis and treatment. A bilateral psoas abscess is rare and, when...
Pinworm, Enterobius vermicularis, is a common parasitic illness, particularly among children in Palestine. On rare occasions, it can cause serious consequences such as acute appendicitis, which can still present ...
Spontaneous hepatic hemorrhage is a rare condition, most commonly diagnosed in patients with hepatocellular carcinoma or hepatic adenomas, and is seldom caused by metastatic disease. In this case report, we pr...
Intestinal duplication cyst is an infrequent congenital malformation that can involve all the segments of the gastrointestinal tract. The cases of intestinal duplication cyst involving the colon, appendix, and...
Bacterial pneumonia is one of the most common causes of acute respiratory distress syndrome. In fulminant cases, when mechanical ventilation fails, veno-venous extracorporeal membrane oxygenation is required. ...
Peritoneal dialysis as one of the nephrology services in children with acute kidney injury is a safe and cost-effective modality of treatment in low and lower-middle income countries. Despite evidence of its e...
Neonatal myiasis is a rare condition, with few reports available on the subject. Surgical management is recommended in some cases. In this study, we present the case of a 7-day-old male neonate with larvae in ...
Coronary cameral fistulas (CCFs) are rare congenital anomalies characterized by abnormal connections between a coronary artery and one of the cardiac chambers. These abnormal connections can lead to significan...
Immunoglobulin light-chain amyloidosis is a relatively rare condition with a worldwide incidence of 5.1–12.8 cases per million person-years (Baker, 2022). It is characterized by a clonal population of immunogl...
Tongue necrosis is a rare and relatively uncommon condition, usually caused by vasculitis, thrombosis, severe hypotension due to septic or cardiogenic shock, vasopressor use, or intubation. Following damage su...
The aim of this case report is describe an unprecedented case with histological and immunohistochemical diagnosis of splenic heterotopy in the colon using material obtained by endoscopic ultrasound-guided biopsy.
Merkel cell carcinomas are rare, aggressive skin tumors with high metastatic potential and poor prognosis. Their treatment is classically based on surgery with adjuvant external radiotherapy for localized tumo...
Finding an ovary and/or fallopian tube within an indirect inguinal hernia is a rare occurrence that can be detected incidentally during elective surgery or present as a medical emergency requiring immediate in...
Tinea versicolor is a very common condition. We reported a specific follicular manifestation and proposed that this particular presentation might be related to the patient’s history of previous keratosis pilaris.
Spinal cysts have traditionally been treated with surgery since it was first described in 1950. However, there have been rare instances where these cysts have resolved on their own without the need for surgica...
A pancreatic duct rupture can lead to various complications such as a fistula, pseudocyst, ascites, or walled-off necrosis. Due to pleural effusion, pancreaticopleural fistula typically causes dyspnea and ches...
Ogden type V tibial tubercle avulsion fracture is an unusual type of physial injury. Thus, little is known about its mechanism of injury and treatment. The type of osteosynthesis is variable and depends on the...
Basal cell carcinoma is the most prevalent skin cancer, most characterized by local aggressiveness but with low metastatic potential, and bone metastasis is quite heterogeneous, thus the incidence profile is v...
Elevated susceptibility to acute myocardial infarction and various cardiovascular diseases has been observed in individuals infected with the human immunodeficiency virus compared with the uninfected populatio...
In this report, we describe an uncommon instance of fungating synovial sarcoma affecting the posterior aspect of the neck. Although the existing literature has documented a limited number of cases, this partic...
Chronic obstructive pulmonary disease is a lung condition characterized by chronic respiratory symptoms (breathlessness, cough, and expectoration). In the advanced stages, patients often report to the Accident...
Renal epithelioid angiomyolipoma is a rare and unique subtype of classic angiomyolipoma, characterized by the presence of epithelioid cells. It often presents with nonspecific symptoms and can be easily misdia...
Potassium nitrate poisoning is a rare but potentially serious condition that can result in methemoglobinemia and subsequent cyanosis. This case report presents a unique instance of rapid-onset methemoglobinemi...
Glioblastoma is a highly malignant disease with limited treatment options. Ibrutinib, a covalent Bruton tyrosine kinase inhibitor, is an oral agent with manageable side effects used for hematological diseases ...
Hemophagocytic lymphohistiocytosis characterized by hemophagocytosis leading to uncontrolled inflammation; the most common etiology in secondary cases of hemophagocytic lymphohistiocytosis is viral infections,...
Encephalocele refers to protrusion of the meninges and brain tissue through a skull bone defect. It results from congenital, traumatic, neoplastic, or spontaneous reasons. Traumatic encephalocele occurs becaus...
Familial adenomatous polyposis is characterized by the presence of multiple colorectal adenomatous polyps and caused by germline mutations in the tumor suppressor gene and adenomatous polyposis coli, located o...
Progressive familial intrahepatic cholestasis is an autosomal recessive genetic disorder that manifests primarily with jaundice and pruritus and can progresses from persistent cholestasis to cirrhosis and late...
Citation Impact 2023
Journal Impact Factor: 0.9
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Source Normalized Impact per Paper (SNIP): 0.591
SCImago Journal Rank (SJR): 0.304
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Journal of Medical Case Reports