Journal of Clinical Images and Medical Case Reports
(ISSN 2766-7820) Impact Factor: 2.6
NLM/PubMed ID: 9918266187306676
Indexed in ISI

KCNQ2-related disorders are rare autosomal dominant channelopathies caused by mutations in KCNQ2, a gene that encodes a subunit of the voltage-gated potassium channel Kv7, resulting in variable phenotypes. Neonatal encephalopathy with non-epileptic myoclonus is one of the less common and more complex phenotypes of KCNQ2 channelopathies

Eosinophilic Granulomatosis with Polyangiitis (EGPA) is a rare systemic vasculitis, with cardiac involvement being one of its most severe and life-threatening complications. Early diagnosis is essential to preventing the progression of myocardial damage and reducing mortality risk through the timely initiation of targeted therapy.

Giant Cell Tumours are benign, aggressive tumours typically found in the metaphysis of long bones, most commonly at the distal femur and proximal tibia. These most commonly affect long bones. We describe a rare occurrence of GCT in the talus bone of a young female, highlighting the clinical presentation, diagnostic process, treatment modalities, and outcomes, in this case report.

Serum-Like Sickness Syndrome (SLS) is a rare hypersensitivity reaction characterized by-immune-mediated systemic symptoms resembling serum sickness. Serum sickness-like reactions are generally less severe than classic serum sickness and can include arthralgias, lymphadenopathy, and urticaria rash, with or without fever.

Radionecrosis, a common complication of radiotherapy, can be mistaken for disease progression. Advanced imaging techniques, such as magnetic resonance imaging with spectroscopy and perfusion, assist in differentiating progression from pseudo-progression. Treatment typically involves corticosteroids, despite the side effects associated with prolonged use, and surgical intervention in severe cases.

This case report aims to illustrate the clinical presentation, diagnosis, and management of Fibrodysplasia Ossificans Progressive (FOP), a rare genetic disorder characterized by heterotopic ossification, through a detailed analysis of a specific patient case.

Ewing’s sarcoma is a very virulent malignant neoplasm composed of round cells with a high frequency in pediatric and young adult age groups. The present article elucidates a case report of a 12-year-old female patient with Ewing’s sarcoma of the chest wall, presenting the clinical presentation

As a surgeon, we all believe that nowadays acute appendicitis is the most common and frequent surgical diagnosis during a surgical shift in the ER. Some patients present with sudden pain appearance, others with a nausea, vomiting and wandering pain.

A 39 year-old man with no significant medical history presented to the emergency department following three episodes of hematemesis. He reported several weeks of intermittent epigastric pain and fatigue but denied any weight loss. There was no history of Non Steroidal Anti-Inflammatory Drug (NSAID) use, anticoagulation, or alcohol consumption.

Background: Radiation-Induced Morphea (RIM) is a rare sequela of radiation therapy occurring most frequently in patients with breast cancer and is usually identified within the irradiated field. Diagnosis of RIM is challenging and frequently a diagnosis of exclusion.