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Huntington’s disease is an autosomal dominant inherited disorder characterized by personality changes (such as irritability and restlessness) and psychotic symptoms (such as hallucinations and delusions). When...
Tirofiban is a nonpeptide glycoprotein IIb/IIIa receptor antagonist used widely in patients subjected to percutaneous coronary intervention. While the usage of tirofiban sets an important clinical benefit, sev...
Acute suppurative thyroiditis is a rare and potentially life-threatening disease. A few cases of acute suppurative thyroiditis associated with thyrotoxicosis have been reported in adults. We report a case of a...
Gustilo–Anderson type IIIc tibial open fracture with large bone defects in elderly patients with severe osteoporosis is a rare injury that may be a challenging clinical scenario.
Chromosomal aberrations are as common as 13.8% in the infertile population. The incidence of pericentric inversion of chromosome 9 is approximately 1–3%. However, although these inversions do not alternate phe...
Erdheim Chester disease (ECD) is a rare disease with multisystemic involvement in the group of non-langerhans cell histiocytosis. Although nearly 100 years have passed since its definition, the number of cases...
Miyakoshi et al. reported three cases of tethered cord syndrome treated by spine-shortening vertebral osteotomy, which provided relief of the patients’ symptoms with no complications. Although the details of thes...
Stuttering may include repetition of words in whole or part, difficulty saying words, and elongated pauses in speech. Approximately 5% of children stutter for a period lasting 6 months or more. Most of those c...
Nitrous oxide (N2O) is a gas used in medicine for its analgesic, anxiolytic and amnesic properties. It is a drug considered safe if adequately administered. In the literature, accidental N2O-related deaths are ra...
Spontaneous colon perforation can be classified into stercoral and idiopathic. Stercoral type is associated with chronic constipation, thus it is rare in infants and children. The idiopathic type is sporadic a...
Amyloidosis is a collection of disorders characterized by the extracellular deposition of amyloid, a specialized fibrous protein, in diverse tissues, leading to functional impairments.
Although isolated fractures of the ulnar shaft are considered common and relatively benign injuries, numerous complications can arise especially in the context of suboptimal care pathways. For pediatric patien...
Here we report the only formally documented case in the United Kingdom, to our knowledge, of a cerebral fat embolism secondary to non-iatrogenic trauma through a Tarlov cyst. This case demonstrates the patholo...
The Mitrofanoff (appendicovesicostomy) procedure is a contraindicated urinary modification that maintains urinary continence by forming a flap-valve mechanism at the site of anastomosis between the appendage a...
Primary hyperoxaluria (PH) is a rare genetic disorder characterized by the excessive production and accumulation of oxalate. We present five cases of PH, each exhibiting varying manifestations of the disorder ...
Pembrolizumab as immunotherapy is increasingly used in adjuvant, neoadjuvant, and standalone therapy and has been described as safe. We share an experience of lung erosion post-thoracic surgery with the use of...
Behçet’s disease (BD) is a chronic systemic disease characterized by vasculitis as the basic pathological change. BD is rare, and gastrointestinal involvement occurs in 3% to 25% of affected patients. This art...
This case reports the synchronous diagnosis of two rare unrelated diseases; leiomyosarcoma and tenosynovial giant cell tumor of the knee. It focuses on the challenges of diagnosing tenosynovial giant cell tumo...
Mixed autoimmune hemolytic anemia (AIHA) shows combined clinical and laboratory characteristics of warm and cold AIHA. It is relatively uncommon in children. Consequently, knowledge about mixed AIHA prevalence...
Although hydatid cyst remains one of the prevalent parasitic infections in humans, hydatid cyst of the thyroid is extremely rare, even in endemic areas. Here we present two cases of thyroid hydatid cysts.
Histiocytic sarcoma (HS) is defined as neoplasm resembling morphological and immunophenotypic characteristics of mature histiocytes. It is a rare form of lymphoid neoplasms. Despite advances in treatment and d...
Single-time non-invasive brain stimulation was carried out using the two-technique approach on a patient suffering from treatment-resistant depression. Five treatment sessions given at weekly intervals resulte...
The Correction to this article has been published in Journal of Medical Case Reports 2024 18:203
Plasmablastic lymphoma is a rare type of non-Hodgkin lymphoma that generally presents an aggressive clinical course. It is strongly associated with human immunodeficency virus (HIV) infection, and the most com...
Deoxyguanosine kinase deficiency is mainly manifested by hepatic and neurological damage, hence it belongs to the hepatocerebral form of mitochondrial deoxyribonucleic acid depletion syndrome. The association ...
Congenital heart disease occurs in approximately 1 in 100 cases. Although sibling occurrence is high (3–9%), the causative genes for this disease are still being elucidated. PLD1 (Phospholipase D1) is a recently ...
Current guidelines for non-small-cell lung cancer (NSCLC) recommend that each tyrosine kinase inhibitor (TKI) is indicated even for driver mutation-positive patients with a poor performance status (PS). In pre...
Hydroceles of the canal of Nuck are rare, and have not been described in relation to pregnancy.
Wolfram syndrome is a rare autosomal recessive neurodegenerative disorder that affects 1/200,000 to 1/1,000,000 children. It is characterized by juvenile onset diabetes, optic nerve atrophy and other systemic ...
Plasmacytoma, a localized tumor of monoclonal plasma cells without any clinical, radiological or physical evidence of plasma cell neoplasm (PCN), is a rare entity that accounts for 1% of PCN. Immunoglobulin M ...
Autoimmune bullous disorders develop due to autoantibodies targeting intercellular adhesion proteins of hemidesmosomes and desmosomes and may be triggered by viral infections and vaccines. Recent reports sugge...
The BRCA2 gene is a well-known tumor suppressor gene implicated in breast and ovarian cancers. BRCA1/2 mutations can be sensitive to poly ADP-ribose polymerase (PARP) inhibitors such as olaparib. However, some of...
Transplant recipients are at high risk of coronavirus disease 2019, and a timely supply of antivirals should be prioritized for those patients. Complicated drug‒drug interactions limit the use of Paxlovid (nir...
Current evidence linking the development of Parkinson’s disease after the use of 3,4-methylenedioxymethamphetamine is mixed and limited, with only a few positive case reports demonstrating this.
Sclerosing angiomatoid nodular transformation of the spleen is a relatively rare benign vascular lesion in both adult and pediatric age groups with unclear etiopathogenesis and variable clinical presentations....
Myxomas are the most prevalent type of heart tumors, mainly occurring in the left atrium, with approximately 20% of cases found in the right atrium. Timely diagnosis and appropriate management of myxomas are c...
Sildenafil is a selective phosphodiesterase type 5 inhibitor used for the treatment of erectile dysfunction and pulmonary hypertension. It is available over the counter in many countries. While there have been...
Posttransplant lymphoproliferative disorder is one of the most severe complications after transplantation, caused by uncontrolled proliferation of Epstein–Barr virus-positive B-cells in the setting of chronic ...
Acrometastasis is an uncommon finding in non-small cell lung cancer and is usually a sign of multimetastatic disease. Few case reports have suggested solitary digital metastasis as the single secondary lesion ...
Hemorrhoidal disease is a common anorectal pathology. Complications post hemorrhoidectomy are rare. Postoperative complications following hemorrhoidectomy include bleeding (2%), infection (0.4–8%), urinary ret...
Metformin-induced lactic acidosis with acute kidney injury is rare but well known. Here we report a case of a Japanese patient taking metformin who experienced severe acute renal failure accompanied with signi...
Intrahepatic vascular shunts “IHVS” are abnormal communications between intra-hepatic vasculature involving the arterial, portal, or hepatic venous system. Arterio-portal fistula “APF” is an intrahepatic commu...
Intussusception is a rare condition in adults, accounting for 5% of intestinal intussusception and being responsible for approximately 1% of all adult bowel obstructions. Neoplastic origin is the most common e...
Salmonella meningitis is a rare but serious complication of Salmonella infection, primarily affecting infants, children, and immunocompromised individuals.
Patients who experience angina and acute myocardial infarction often receive diagnostic coronary angiography and percutaneous coronary intervention.
Rathke’s cleft cysts are thought to have a benign clinical outcome apart from associated hypopituitarism and visual defects. Synchronous central nervous system lesions, including pituitary adenoma and intracer...
Immune checkpoint inhibitors might cause immune-related adverse events that are still largely unknown.
Small airways disease (SAD), a novel finding described in post-acute COVID-19 patients, should be suspected when respiratory symptoms continue, air trapping persists on expiratory CT scans, and imaging finding...
Obstructive jaundice has various causes, and one of the rarest is pancreaticoduodenal artery aneurysm (PDAA), which is often associated with celiac axis stenosis caused by median arcuate ligament syndrome (MALS).
Isolated Patellar Aplasia Hypoplasia is a very rare autosomal dominant disorder. Its treatment depends on the clinical manifestations that can vary widely. The lack of active extension, which can be responsibl...
Vaccine-induced thrombotic thrombocytopenia is associated with the coronavirus disease 2019 vaccines. It has been reported by vector-based vaccines. To the best of our knowledge, there is no report about vacci...
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Journal of Medical Case Reports