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Introduction and importance: Hyper-IgE syndrome (HIES), also known as Job syndrome, is a rare immunodeficiency disorder characterized by elevated immunoglobulin E levels and recurrent infections. Diagnosing and managing HIES in resource-limited settings is challenging due to the lack of advanced diagnostic tools. This report highlights the necessity of clinical evaluation and basic laboratory investigations for diagnosing HIES. Case presentation: A 3-year-old male presented with fever, cough, and widespread pustular lesions. He had a history of recurrent respiratory infections and otitis media. Physical examination revealed characteristic facial features, skin findings, and laboratory investigations showed elevated immunoglobulin E levels (>3000 IU/ml) and leukocytosis. A clinical diagnosis of HIES was made, and the patient responded well to antibiotics, antihistamines, and topical steroids. Clinical discussion: HIES is caused by genetic mutations affecting immune function, primarily involving STAT3 and DOCK8 genes. Diagnosis in resource-limited settings relies on clinical features and basic investigations. Challenges include the unavailability of genetic testing. Management includes antibiotics and symptomatic relief adapted to available resources. Conclusion: Diagnosing and managing HIES in resource-limited settings requires adaptation of clinical approaches to available resources. This case underscores the importance of clinical vigilance and basic diagnostic tools in diagnosing rare immunodeficiencies.
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Introduction: Managing patients with complex comorbidities poses significant diagnostic and therapeutic challenges. This case report details a 65-year-old male with a history of decompensated chronic liver disease (CLD) and portal hypertension, who presented with symptoms suggestive of liver disease exacerbation. He was later diagnosed with primary lung malignancy and extensive thrombosis, including the inferior vena cava (IVC) and heart chambers, a rare finding. Case presentation: A 65-year-old man with a history of smoking, alcohol consumption, and chronic liver disease presented with severe pain in the upper right quadrant, dyspnea, weakness, loss of appetite, and unintentional weight loss. Medical assessments revealed decompensated CLD with elevated bilirubin levels, low albumin, and an elevated INR. Imaging showed lung cancer with metastasis to the adrenal gland and a large IVC thrombus extending to the heart chambers. The patient decided to pursue palliative care. Discussion: When dealing with primary lung cancer and adrenal metastasis, it's important to thoroughly assess atypical presentations for IVC thrombus. Even with advances in imaging and treatments, managing IVC thrombus related to cancer is still difficult and requires a team approach. This case highlights underdiagnosis in areas with limited resources, emphasizing the need for timely advanced diagnostics such as CT and MR imaging. Conclusion: This case highlights the complexities of diagnosing and managing patients with multiple conditions. It emphasizes the need for patient-centered care and the importance of ongoing research to develop effective diagnostic and treatment strategies for conditions like IVC thrombus in the context of malignancy.
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Introduction and significance: Lutembacher syndrome (LS), combining atrial septal defect (ASD) and mitral stenosis (MS), is rare, particularly in rural areas. This case presents a 55-year-old Nepalese woman with LS symptoms; however, financial constraints hindered surgical treatment, highlighting LS challenges and the need for early intervention in resource-limited settings. Case presentation: A 55-year-old woman from rural Nepal presented with 30-day leg swelling and shortness of breath. Apart from autosomal dominant polycystic kidney disease (ADPKD) and smoking, she had no significant comorbidities. Clinical examination revealed severe mitral stenosis and an ASD, but financial limitations prevented surgery. Clinical discussion: LS is rarer in regions with low rheumatic heart disease (RHD) prevalence like Nepal. This case, despite rarity, delayed presentation, and financial barriers, emphasizes early intervention's importance. While rheumatic fever wasn't confirmed, clinical and echocardiographic findings suggest rheumatic mitral stenosis. The patient's surgery reluctance due to finances highlights resource limitations' impact. Conclusion: This Nepalese LS case highlights its complexity and management challenges, especially in resource-limited settings. It stresses early intervention's importance and the impact of financial constraints on patient care. The study urges improved healthcare access and alternative funding in high RHD-prevalence regions.
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BACKGROUND: Despite declining smoking prevalence globally, South Asia faces a rising burden. In Nepal, existing tobacco control laws haven't curbed use, with 28.9% of young adults engaging in tobacco use. This study investigates tobacco use and associated factors among medical, dental, and nursing students at a Nepalese tertiary care center. OBJECTIVE: We aimed to assess tobacco use prevalence and identify factors associated with it among future healthcare professionals, considering their distinct roles in tobacco control. Medical students can contribute through clinical counseling and public health advocacy, dental students through oral health education, and nursing students through patient education and community outreach. METHODS: A cross-sectional study involving 427 medical, dental, and nursing students was conducted. Data was collected using online questionnaires distributed via email and social media. Descriptive statistics and Chi-square tests were used for analysis. RESULTS: The study found that 45% of participants were aged 22-25, with females comprising the majority (53.2%). Nearly half (49.2%) belonged to the medical faculty, and 24.4% were in their first year. Furthermore, among those who smoke, 53% reported smoking less than 5 cigarettes daily. The analysis revealed significant associations between smoking with age (p = 0.01), year of study (p = 0.001), parental smoking history (p = 0.001), and having friends who smoke (p = 0.001). CONCLUSION: Our findings highlight the moderate prevalence of cigarette smoking among medical students, with family and friends emerging as major influences. Stress relief was a common reason, particularly among young females and first-year students. These results emphasize the urgent need for comprehensive tobacco control programs within medical institutions to equip future healthcare professionals to effectively address smoking issues.
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Estudiantes de Medicina , Centros de Atención Terciaria , Uso de Tabaco , Humanos , Nepal/epidemiología , Femenino , Masculino , Adulto , Estudiantes de Medicina/estadística & datos numéricos , Estudios Transversales , Adulto Joven , Centros de Atención Terciaria/estadística & datos numéricos , Uso de Tabaco/epidemiología , Prevalencia , Encuestas y Cuestionarios , Estudiantes de Odontología/estadística & datos numéricos , Fumar/epidemiología , Estudiantes de Enfermería/estadística & datos numéricosRESUMEN
Background: Sturge-Weber syndrome (SWS) is a rare neurocutaneous disorder characterized by a facial port-wine birthmark, leptomeningeal angiomatosis, and glaucoma. This case report highlights the challenges of diagnosing SWS when presenting with atypical features. Here, the authors present a 55-year-old man with an extrafacial port-wine stain and delayed-onset seizures, deviating from the classic triad. Case presentation: A 55-year-old man presented with a recent seizure and a characteristic port-wine birthmark extending beyond the typical facial region. Neurological examination revealed no weakness, speech difficulties, or coordination problems. Ophthalmological examination didn't reveal glaucoma. Limited resources restricted access to advanced imaging like MRI scans. However, based on the constellation of clinical findings, including the facial birthmark with angiomatosis and the new-onset seizure, the patient received a diagnosis of SWS. Treatment with Levetiracetam was initiated to prevent future seizures, and patient education on managing diabetes and hypertension was provided. Clinical discussion: This case underscores the importance of considering SWS in diagnosing adult-onset seizures, especially with a characteristic facial birthmark. The delayed presentation and isolated seizure suggest potentially less severe brain involvement. Resource limitations necessitated a clinical diagnosis and treatment with readily available medications. Conclusion: This case highlights the challenges of diagnosing atypical SWS presentations. Early diagnosis is crucial for prompt management and improved patient outcomes. Future research should focus on developing robust diagnostic tools and exploring novel treatment options for atypical SWS presentations.
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Key Clinical Message: Unilateral opercular lesions can result in Foix-Chavany-Marie syndrome, which is marked by acute anarthria, automatic-voluntary movement dissociation-most notably the absence of voluntary facial and tongue movements-and a generally better prognosis. Better patient outcomes are mostly dependent on early detection, management, and rehabilitation. Abstract: Opercular syndrome is a rare neurological disorder caused by bilateral or unilateral lesions of the operculum that result in symptoms related to speech and swallowing difficulties with dissociation of automatic-voluntary movements in affected muscles. 78-year-old female presented with acute onset dysarthria, left sided facial deviation and difficulties in chewing, speaking, and swallowing. CT head revealed ischemic changes in left frontal operculum and was diagnosed with the unilateral opercular syndrome. The case was managed according to ischemic stroke protocol. The patient was discharged after 7 days of hospital stay, with MRS 2, NIHSS 9 and secondary stroke preventive measures. At 4 months follow-up, her MRS was 1, with mild dysarthria, that could be understood, and her swallowing improved to some amount of drooling while feeding. Early recognition, treatment, and rehabilitation play important role in prompt improvement of symptoms.
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Varicella-zoster virus (VZV) is a type of herpes virus that causes varicella (primary infection) and herpes zoster/shingles (due to reactivation of latent infection). Usually a benign and a self-limited illness, the illness sometimes can result in severe complications in both immunocompetent and immunocompromised persons. Varicella Pneumonia as a complication of herpes zoster is a rare event, with reports primarily concerning immunocompromised individuals. Here we report a 14-year-old female who developed a secondary bacterial infection of the skin lesions and varicella pneumonia associated with VZV infection. The patient presented with multiple painful vesicles that later turned into pustular lesions over the right cheek with erosions and hemorrhagic crusting. Swelling involving the right half of both upper and lower lips was present. She developed a fever, cough, and shortness of breath after two days of the presence of vesico-pustular lesions. A diagnosis of Pneumonia was made based on symptoms of fever and cough and findings on chest x-ray. This case highlights, though rare, varicella pneumonia has a high rate of respiratory failure, but early diagnosis with prompt administration of antiviral medications can improve outcomes.
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Spontaneous bilateral intracerebral haemorrhage is a rare surgical occurrence, especially in young populations with poor prognosis. Hypertension is the leading cause but vascular malformations, infections and rare genetic conditions are also responsible. Case presentation: Twenty-three-year-old male with no prior comorbidities presented to emergency with sudden onset loss of consciousness and 1 episode of seizure. No history of intoxication or trauma was given. Glasgow Coma Scale at presentation was E1V2M2. CT scan head revealed bilateral basal ganglia haematoma along intraventricular haemorrhage. Clinical discussion: The patient was managed conservatively in the Neurosurgical Intensive care unit. Supportive management was provided. The patient's motor response was improving and a repeat CT scan showed a resolving haematoma. However, due to poor economic conditions, the patient party left against medical advice. Conclusion: Spontaneous bilateral basal ganglia haemorrhage is a rare surgical emergency with no clear consensus on a management approach. This case highlights the importance of undiagnosed hypertension in causing intracerebral haemorrhage in poor economic groups.
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Intestinal tuberculosis (TB) is a rare condition comprising a majority of the extra-pulmonary TB cases. Owing to a similar clinical presentation, ultrasonographic and biopsy findings of intestinal TB with that of other abdominal pathologies such as carcinoma colon, their clinical delineation is very difficult unless aided with other modalities of investigations such as colonoscopy, culture of the biopsy material, etc. and even advanced methods such as polymerase chain reaction and gene X-pert of the biopsy material. Having all these investigations may not even lead to a correct diagnosis of intestinal TB as evidenced in the reported cases in the literature, advocating the need of diagnostic laparoscopy in the diagnosis of intestinal TB to eliminate extensive and unnecessary surgeries. Here, we present a case of intestinal TB in a 51-year-gentleman who got diagnosed in the course of treatment for a suspected carcinoma colon.