RESUMO
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a rare genetic disorder caused by mutations in the NOTCH3 gene, resulting in subcortical infarctions and leukoencephalopathy. It predominantly affects the brain's small blood arteries, resulting in repeated ischemic episodes including transient ischemic attacks and strokes leading to cognitive impairment and mental symptoms. We provide a case study of a 25-year-old patient suspected of having meningoencephalitis. CADASIL was diagnosed based on clinical examination, imaging investigations, and genetic analysis. Optimal patient care for this complicated illness requires early detection and proper management.
RESUMO
The aorta is particularly damaged by Takayasu's arteritis (TA), a rare form of vasculitis. Chest discomfort, exhaustion, fever, elevated blood pressure, heart failure, and stroke can all result from this. Major intimal fibrosis with vascular constriction is the disease's hallmark; although anybody can have it, Asian females in their 20s or 30s seem to be most typically affected. The treatment of a 23-year-old Asian female with Takayasu's arteritis (TA) is discussed in this case study, along with her presentation. Before developing seizures, the patient first showed signs of left-sided weakness and facial droop. Ischemic infarcts and vasculopathy were detected by imaging. The patient fulfilled several American College of Rheumatology (ACR) criteria for TA with a positive erythrocyte sedimentation rate (ESR). During treatment, high-dose prednisolone, cyclophosphamide, and neuroprotective measures were used. The patient's attentiveness and mobility improved despite early complications, such as vascular friability. This case illustrates the difficulties and effective treatment of neurovascular problems connected to TA.
RESUMO
Wilson's disease (WD) is an autosomal recessive disorder affecting the metabolism of copper that can present with a variety of clinical symptoms. Low levels of serum copper and ceruloplasmin, increased excretion of copper in the urine, and/or increasing quantities of copper in the liver are diagnostic indicators. The gold standard for diagnosis is genetic testing. The care approach includes the utilization of liver transplants as a therapeutic option in advanced patients and the use of copper-chelating medications. We describe a unique case of WD in a 14-year-old girl who presented with ascites, hemolytic anemia, and liver dysfunction. There was no indication of abdominal TB, and her viral, autoimmune, and hemolytic profiles were all normal. Low serum ceruloplasmin, elevated urine copper, and distinctive liver histology all supported the WD diagnosis. After starting penicillamine medication, the patient's symptoms improved, but her blood counts did not. This example emphasizes how crucial it is to rule out WD in patients with chronic liver disease, hemolytic anemia, and unexplained ascites, particularly in younger age groups.
