RESUMEN
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is an uncommon genetic disorder that affects small blood vessels in the brain. It leads to neurological symptoms, disability-adjusted life years, and difficult emotional and physical situations for patients and their families. As unusual brain symptoms appear, it becomes important to understand the different clinical manifestations of CADASIL. Our case report and review examine several cases to demonstrate different presentations and management strategies of CADASIL. A 52-year-old male with a family history of strokes at a young age from his father and paternal grandfather presented to a neurology clinic for left facial droop and drooling. Brain magnetic resonance imaging showed extensive periventricular and subcortical white matter disease, including the external capsule and subcortical white matter of the temporal lobe. Findings were suggestive of small vessel vasculopathy. A cerebral angiogram showed that all large extra- and intracranial vessels were patent without evidence of aneurysm formation. There was no obvious evidence of beading of the distal intracranial vessels. Cerebrospinal fluid studies were normal. The NOTCH3 mutation was sent to test for CADASIL, which came back positive. The patient was started on aspirin (81 mg) and atorvastatin (20 mg) daily. The patient was counseled on the possibility of having an ischemic or hemorrhagic stroke. Aspirin and atorvastatin were continued, a neuropsychological evaluation was ordered, and CADASIL genetic counseling and testing were offered to him and his children. Over several years, patients developed several strokes and seizures due to infarcts. He also developed intraparenchymal hemorrhage complicated by dysphagia, requiring a feeding tube. Due to his severe physical debility, he was discharged to a nursing home for rehabilitation, where he did not improve with therapy and remained bedbound. He was discharged and sent home with his family. CADASIL can present as a diagnostic challenge due to its common presentation with migraines, transient ischemic attacks, and strokes, with or without risk factors. This unique presentation of CADASIL with facial palsy highlights the importance of emerging atypical presentations and the need for a detailed history of neuroimaging, family history, and personal history of neurovascular events. By accurately diagnosing the condition, patients and families can be counseled on the disease course and genetics. Management requires a multidisciplinary approach with neurology, genetic counseling, physical therapy, psychology, and psychiatry if depression or anxiety is present, with the aim of improving the patient's quality of life.
RESUMEN
BACKGROUND: Thyroid hormones play a pivotal role in regulating metabolic processes, including liver metabolism. The interplay between thyroid function and liver enzymes is complex, with thyroid dysfunction potentially impacting liver function. The relationship between thyroid-stimulating hormone (TSH) levels and liver function parameters is particularly noteworthy, especially in areas like North Karnataka, India, where dietary and environmental factors may impact thyroid disorders. AIM AND OBJECTIVES: The principal objective of this research is to explore the association between TSH levels and liver function parameters in individuals from North Karnataka. Secondary objectives include examining the relationship between TSH levels, blood pressure, and the prevalence of comorbidities in the study population. MATERIALS AND METHODS: This retrospective observational study included 75 patients admitted to a tertiary care hospital in North Karnataka. Patients who had undergone both thyroid function tests and liver function tests were included in the study. Data on blood pressure and comorbidities (like hypothyroidism, hyperthyroidism, hypertension, gastritis, alcohol-related liver disease, anemia, chronic obstructive pulmonary disease (COPD), arthritis, diabetes mellitus, migraine, and uterine disorder) were also collected and analyzed. RESULTS: The study population comprised 48 females (64%) and 27 males (36%), with a mean age of 46.52 years. Thyroid irregularities were observed in 16 patients (21.4%), with hypothyroidism being the predominant thyroid disorder, accounting for 14 cases (18.7%). The distribution of comorbidities included diabetes mellitus (14 patients; 18.7%), anemia (19 patients; 25.3%), migraine (18 patients; 24%), hypertension (17 patients; 22.7%), gastritis (10 patients; 13.3%), COPD (nine patients; 12%), alcohol-related disorders (four patients; 5.3%), arthritis (three patients; 4%), and uterine disorders (eight patients; 10.6%). It is important to note that some patients presented with more than one comorbidity, which may result in an overlap in the total count of specific conditions reported. DISCUSSION: The absence of a significant correlation between TSH levels and liver function tests in this study contrasts with some previous research, suggesting that regional factors and dietary habits may play a role in these associations. The high prevalence of thyroid disorders, particularly hypothyroidism, underscores the importance of monitoring thyroid function in this population. The presence of comorbidities such as diabetes mellitus and anemia further complicates the clinical picture and highlights the need for comprehensive healthcare approaches. CONCLUSION: This study did not find a significant correlation between TSH levels and liver function parameters in patients from North Karnataka. The findings emphasize the need for continued research into the complex interactions between thyroid function and liver metabolism, particularly in regions with unique environmental and dietary influences. Public health initiatives should focus on addressing the high prevalence of thyroid disorders and related comorbidities in this population.
RESUMEN
In older adults, diagnosing, treating, and preventing urinary tract infections (UTIs) can be challenging. This case is of an 82-year-old female of white descent, who was admitted to a post-acute care facility following hospitalization for delirium and a UTI. Hypoactive delirium may be the only clinical manifestation of recurrent UTI. Due to challenges in obtaining a history from this patient with dementia, she had to be admitted multiple times for sepsis. During her final hospitalization, a CT scan of the abdomen and pelvis was ordered, which revealed an obstructed kidney stone as the cause of her recurrent UTIs. Recurrent UTIs especially in patients with dementia should prompt further imaging to look for kidney stones. Factors like dehydration and poor oral intake are risk factors for kidney stones, which patients with dementia are susceptible to.