ABSTRACT
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.
ABSTRACT
The symptoms of Miller-Fisher syndrome (MFS) are a triad of areflexia, ataxia, and ophthalmoplegia. The condition is a rare variant of Guillain-Barré syndrome (GBS), an acute immune-mediated nerve disorder. Both conditions involve abnormal autoimmune responses that may often be triggered by infections such as Campylobacter jejuni, human immunodeficiency virus, Epstein-Barr virus, and Zika virus, among others. As a result, the immune system mistakenly attacks the body's own nerve tissues. MFS is characterised by ophthalmoparesis, which can progress to complete external ophthalmoplegia and may include ptosis, facial nerve paralysis, sensory impairments, and muscle weakness. Diagnosis is supported by lumbar puncture, revealing albumin-cytologic dissociation, although initial tests may not always be indicative. A diagnostic marker for MFS is the presence of anti-GQ1b antibodies, which target the GQ1b ganglioside in nerves and affect oculomotor function in particular. Electrodiagnostic studies often show absent or reduced sensory responses without reduced conduction velocity. Treatment options include intravenous immunoglobulin therapy and plasmapheresis, which are both equally effective. This case study demonstrated significant clinical improvement in a patient undergoing plasmapheresis due to financial constraints, highlighting the efficacy of this treatment approach. A 50-year-old female presented with limb paraesthesia, progressive ptosis, imbalance, and transient diplopia following a recent fever. Examination revealed stable vitals, decreased deep tendon reflexes, reduced vibratory sensation, cerebellar ataxia, and cranial nerve abnormalities. Cerebrospinal fluid analysis showed elevated protein, suggesting MFS. Normal magnetic resonance imaging and nerve conduction studies indicated GBS, with positive anti-GQ1b antibodies. After five plasma exchange cycles, the patient improved substantially and was discharged with no residual symptoms after one month.
ABSTRACT
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.
ABSTRACT
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.
ABSTRACT
This case report delves into the intricate challenges of managing tuberculosis (TB) in a 70-year-old male with decompensated chronic liver disease (DCLD) and a history of endoscopic variceal ligation. The patient, initially presenting with symptoms such as black-colored stools, breathlessness, and weight loss, was diagnosed with right-sided pneumonia alongside DCLD. Despite the administration of standard beta-lactam plus macrolide antibiotics, the patient exhibited no improvement. Subsequent bronchoscopy revealed Mycobacterium tuberculosis (MTB), prompting the initiation of first-line anti-tubercular therapy. However, the hepatotoxic response necessitated a switch to a modified regimen with non-hepatotoxic drugs, emphasizing the challenge of managing TB in cirrhotic patients. Effective management of MTB infection involves personalized administration of anti-TB drugs, taking into account the individual's chronic liver disease status. This case underscores the importance of treating tuberculosis in liver cirrhosis patients based on the Child-Turcotte-Pugh score. A tailored and vigilant approach is indispensable for the successful management of MTB infection.
ABSTRACT
Despite the significant advancements in prostate-specific antigen (PSA) screening and the diverse array of available treatments, prostate cancer (PCa) still significantly contributes to cancer-related illness. The most prevalent sites for metastases are bones, distant lymph nodes, and abdominal organs. Nevertheless, metastasis to the renal and retroperitoneal regions originating from prostate cancer constitutes an exceptionally uncommon clinical occurrence. Metastatic PCa commonly presents with elevated serum PSA levels, a hallmark of its diagnostic profile. However, there are instances where patients exhibit atypical metastatic patterns or maintain normal PSA levels. In the case under consideration, the patient exhibited a periureteral tumor with an indeterminate primary origin, subsequently confirmed to be metastatic prostate cancer. This case underscores the importance of recognizing the varied and sometimes elusive presentations of metastatic PCa. Despite its rarity, the occurrence of renal and retroperitoneal metastasis emphasizes the need for vigilance and a comprehensive understanding of the diverse manifestations of advanced PCa for timely and accurate diagnosis, which is paramount in optimizing patient care and outcomes.