An Atypical Presentation of Fabry Disease in a Patient With Nephrotic Syndrome: A Case Report.

Fabry disease is a rare X-linked lysosomal storage disorder that leads to the accumulation of globotriaosylceramide (Gb3) across various tissues, stemming from a deficiency in alpha-galactosidase A (GLA). This condition is characterized by a spectrum of clinical manifestations that can significantly complicate diagnosis. Classical symptoms typically include neuropathic pain, angiokeratomas, and significant involvement of the renal and cardiac systems. However, atypical presentations may obscure the underlying diagnosis, emphasizing the importance of maintaining a high level of clinical suspicion. This case report details the diagnostic journey of a 24-year-old female who initially presented with nephrotic syndrome, a presentation not commonly associated with Fabry disease. Subsequent genetic testing revealed a pathogenic variant in the GLA gene, confirming Fabry disease and highlighting the critical need for genetic analysis in cases of unexplained renal pathology. This case underscores the variability of Fabry disease presentations and the pivotal role of comprehensive diagnostic strategies in uncovering this complex disorder.

The Intersection of Migraine and Epistaxis: Clinical Observations and Analysis.

Migraine prevalence has risen over the last few decades, which may be attributed to lifestyle changes. Epistaxis is unusual in migraine. Here we present a case series of four patients, who are presented with headaches associated with epistaxis. A detailed history revealed cardinal symptoms of migraine according to the International Headache Society, including hemicranial throbbing headache of moderate to severe intensity lasting for a duration of four to 72 hours, along with associated features of nausea, vomiting, photophobia, and phonophobia. Investigations, including ENT (ear, nose, and throat) examination, nasal endoscopy, gastroscopy, bronchoscopy, hematological, and coagulation parameters, were negative. All patients were started on prophylactic treatment for migraine, and they responded well. Epistaxis occurs at the peak of headache following which symptoms tend to resolve. The pathophysiology behind this is stimulation of the trigeminovascular system leading to dilatation of external and internal carotid arteries.

Cross-Sectional Study Comparing Activities of Daily Living Using Barthel Index Within a Geriatric Population Having Non-Communicable Diseases.

Introduction Disabilities and non-communicable diseases (NCDs) are prevalent among the elderly, significantly affecting their quality of life. Comprehensive population-based data are essential for effective healthcare planning and rehabilitation. This study aims to determine the prevalence of self-reported disabilities and compare Barthel Index scores among elderly individuals with and without NCDs. Methods A cross-sectional study was conducted at Dr. D. Y. Patil Medical College, Pune, involving 102 patients aged 60 years and above. Patients with a history of strokes or limb amputations were excluded. Data on demographics, comorbidities, and functional status were collected using a structured questionnaire designed based on Barthel Index scoring to assess the activities of daily living (ADL). Results The study included 102 participants: 58 males (56.9%) and 44 females (43.1%). Age distribution showed 73.5% in the 60-74 age group, 22.5% in the 75-84 age group, and 3.9% in the 85+ age group. Comorbidity data revealed that 37.3% had no comorbidities, 26.4% had one comorbidity, and 36.3% had two or more comorbidities. The mean Barthel Index scores were 87.11 for those without comorbidities, 83.89 for those with one comorbidity, and 82.30 for those with two or more comorbidities. The most affected activities were stair climbing (75.7%), bowel control (48.5%), and mobility (47.1%). Conclusion NCDs significantly impact daily activities in the elderly, underscoring the need for targeted healthcare interventions to improve their quality of life. This study highlights the importance of comprehensive care strategies to address the specific needs of elderly patients with comorbidities.

Comprehensive Analysis of Dementia Types and Risk Factors: A Study From a Tertiary Care Center in India.

Background and objective Dementia is a prevalent clinical syndrome characterized by memory impairment and cognitive dysfunction. Its global burden is expected to rise significantly, particularly in low- and middle-income countries. Understanding the spectrum of dementia types and associated risk factors is crucial for effective management. This study aims to elucidate the demographic profiles, clinical types, and risk factors of newly diagnosed dementia cases at a tertiary care hospital in India. Methods and materials A cross-sectional, hospital-based observational study was conducted on 81 patients at the Department of Medicine, Dr. D. Y. Patil Medical College, Hospital, and Research Centre, Pimpri, Pune, from February 2022 to January 2024. Ethical approval was obtained, and written consent was obtained from participants. Clinical diagnosis was based on the Diagnostic and Statistical Manual of Mental Disorders, Fifth Edition (DSM-V) criteria, supported by cognitive assessment tools and laboratory/radiological investigations. Inclusion criteria encompassed individuals aged 18 years or older, presenting with clinical symptoms suggestive of dementia, having a Mini-Mental State Examination (MMSE) score of less than 24 and Montreal Cognitive Assessment (MoCA) score of less than 25, according to DSM-V criteria for dementia. Exclusion criteria included individuals with a history of head trauma or those below 18 years of age. Results Of the 81 participants, the majority (74.1%) were over 60 years old, with females comprising 59.3% of the sample. Alzheimer's disease was the most prevalent dementia subtype (34.5%), followed by vascular dementia (19.7%) and mixed dementia (13.5%). Other causes included Lewy body dementia (2.46%), Parkinson's dementia (4.9%), frontotemporal dementia (4.9%), and Creutzfeldt-Jakob disease (1.2%). Reversible causes accounted for a significant proportion of cases: alcohol-associated dementia (6.1%), hypothyroid-associated dementia (3.7%), HIV-associated dementia (2.46%), herpes simplex dementia (1.2%), neurosyphilis-associated dementia (1.2%), and normal pressure hydrocephalus (NPH)-associated dementia (2.4%). Analysis of risk factors revealed distinct patterns among different dementia types, emphasizing the role of cardiovascular and metabolic health. Conclusion This study provides insights into the demographic profiles, clinical types, and dementia risk factors in India. Addressing causes and managing cardiovascular/metabolic health is crucial for dementia prevention and management. Comprehensive care strategies and ongoing research efforts are essential for improving dementia outcomes and enhancing the quality of life for affected individuals and their families.

Giant Occipital Intradiploic Epidermoid Cyst.

Intraparenchymal or intradiploic epidermoid cysts are very rare. Most of these cysts, when present, tend to involve the frontal and temporal lobes, and occasionally, the pineal gland or the brain stem. Here, we report a 45-year-old female, who presented with localized occipital headache and a tender occipital swelling, gradually increasing in size. She was hemodynamically and neurologically stable and did not have any focal neurological deficits. Whole skull and brain imaging revealed a well-demarcated expansile lytic lesion in the right occipital bone, which was hypointense on T1-weighted and hyperintense on both T2-weighted imaging and diffusion-weighted imaging without any contrast enhancement. The patient underwent a right occipital craniotomy and total excision of the intradiploic space occupying lesion. Histopathological examination confirmed the lytic bone lesion over occipital bone as intradiploic epidermoid cyst.