Oxford Medical Case Reports最新文献

This report describes a rare case of pneumatosis cystoides intestinalis in a dialysis patient with autosomal dominant polycystic kidney disease, detected at autopsy. Pathological findings suggest a potential link between intestinal gas cyst formation and the structural fragility associated with polycystic kidney disease.

Pure red blood cell aplasia (PRCA) is a rare complication of major ABO-incompatible hematopoietic stem cell transplantation (HSCT), characterized by severe anemia due to impaired erythropoiesis. We report the case of 52 year old man with chronic myeloid leukemia who developed refractory PRCA four months post transplant. The patient was unresponsive to multiple immunosuppressive agents but showed marked hematologic recovery following ten sessions of plasma exchange (PEX) over five weeks. Hemoglobine level rose from 6 g/Dl to 16 g/dL, eliminating the need for further transfusions. This report highlights a case of refractory PRCA successfully treated with PEX, underscoring its potential efficacy and the need for further research to establish treatment guidelines.

Kartagener syndrome, a subset of primary ciliary dyskinesia, is typically diagnosed in childhood due to its classic triad of situs inversus, chronic sinusitis, and bronchiectasis. We report a compelling case of a 38-year-old woman from a remote village who presented to our emergency department with palpitations, dyspnea, and reflux. All symptoms resolved with rest and PPIs. Routine investigations revealed dextrocardia on ECG and chest radiography. Despite a limited history of hospital visits, she had a known history of nasal polyps, chronic cough with mucus expectoration, and recurrent bronchitis. A clinical diagnosis of Kartagener syndrome was made based on clinical features and basic diagnostic tools. This case underscores the importance of maintaining diagnostic vigilance in adult patients and highlights the potential for accurate diagnosis even in resource-constrained settings. It emphasizes how physical examination and plain radiography can reveal significant diagnostic clues, even in the absence of advanced investigations.

Idiopathic hypereosinophilic syndrome (HES) is defined as blood eosinophilia on at least 2 occasions or evidence of prominent tissue eosinophilia with exclusion of secondary causes, commonly affecting the lungs but rarely the liver. A 44-year-old woman presented with 18 months of progressive dyspnea, cough, and intermittent fever. Investigations revealed marked leukocytosis with hypereosinophilia, cholestatic pattern of liver enzyme elevation, and hypergammaglobulinemia. High-resolution computed tomography of the chest showed bilateral fibrotic changes suggestive of sarcoidosis. Antinuclear antibody testing was strongly positive with a cytoplasmic filamentous pattern, suggesting autoimmune hepatitis or eosinophilic granulomatosis with polyangiitis. Liver biopsy revealed pericellular and portal fibrosis, focal eosinophilic infiltration, mild hepatocellular cholestasis, and occasional multinucleated giant cells. After excluding mimics, a diagnosis of HES with isolated pulmonary and hepatic involvement was established. This case highlights the importance of considering HES in patients with longstanding respiratory symptoms and systemic findings, especially when autoimmune markers may be misleading.

Oligosecretory multiple myeloma (OSMM) is a rare subtype of plasma cell dyscrasia that poses significant diagnostic challenges due to the absence of a clear monoclonal (M) spike on serum protein electrophoresis. We report the case of a 64-year-old woman with a history of ovarian tumor who presented with progressive fatigue, weight loss, bone pain, anaemia, hypercalcemia, and renal dysfunction. Despite the absence of a definitive M-spike, further immunochemical testing revealed discrete IgG-kappa bands on immunofixation, skeletal x-rays showed extensive osteolytic lesions. A bone marrow biopsy confirmed a diagnosis of OSMM. This case highlights the importance of considering oligosecretory variants in patients with clinical and radiological features suggestive of myeloma, even when routine tests appear normal, and illustrates how comprehensive evaluation with immunofixation and bone marrow examination can prevent diagnostic delays and allow timely initiation of treatment in these diagnostically challenging cases.

Diffuse idiopathic skeletal hyperostosis (DISH) is a non-inflammatory systemic disease characterised by ossification of ligaments and entheses. Although it is usually asymptomatic, in its cervical localisation it can cause dysphagia secondary to oesophageal compression or functional limitation due to ankylosis. We present the case of a 58-year-old male with progressive dysphagia of three years' evolution, with an EAT-10 score of 34/40. Surgical resection of the impressive osteophyte formation was performed by an anterior cervical spine approach and precision drilling. Within a few weeks, there was a reported progressive improvement and complete resolution of the symptoms. The pathophysiological mechanisms involved and current recommendations on surgical indications, prognosis and follow-up are discussed. Awareness of this therapeutic option is paramount in non-surgical specialties, and interdisciplinary discussion is recommended.

Catatonia is a rare neuropsychiatric syndrome that has been exceptionally described as the initial manifestation of systemic lupus erythematosus (SLE). We report the case of a 32-year-old woman who presented with severe catatonia, autoimmune hemolytic anemia, and lupus hepatitis as the first expression of SLE. Positive ANA, anti-SM, and anti-ribosomal P antibodies, elevated anti-dsDNA with low complement, and a SLEDAI-2 K score of 8 supported the diagnosis. Antiphospholipid antibodies were negative. The patient received high-dose corticosteroids, cyclophosphamide, hydroxychloroquine, and lorazepam, with marked improvement after three days and complete recovery within two weeks, remaining relapse-free during follow-up. This case emphasizes the importance of considering catatonia as an initial manifestation of neuropsychiatric SLE and highlights the diagnostic relevance of anti-ribosomal P antibodies in such presentations.

Thyroid hormone is essential in human metabolism. Hypothyroidism causes bradycardia, sinus pause, sinus arrest, and the most severe form, myxedema coma, and cardiopulmonary arrest. Most cardiovascular manifestations secondary to hypothyroidism are reversible with timely thyroid hormone replacement. Herein, we report a case of a 53-year-old woman with hypothyroidism who experienced episodes of prolonged sinus arrest, which resolved following temporary pacing and initiation of levothyroxine therapy. Factors such as seasonal variation, medication noncompliance, recent viral illness, and concurrent escitalopram use likely contributed to her presentation. This case highlights the importance of prompt recognition and management of hypothyroid-related cardiac arrhythmias.

Background: The 'spiked helmet' sign is a rare electrocardiographic (ECG) phenomenon characterized by transient ST-segment elevations mimicking an acute coronary syndrome, typically seen in critically ill patients. While often associated with severe physiological stress, its presence in sepsis is particularly uncommon.

Case presentation: A 68-year-old male with a history of hypertension and diabetes mellitus presented to the emergency department with fever, altered mental status, and hypotension. Initial workup revealed severe sepsis secondary to pneumonia. His ECG showed pronounced ST-segment elevations in leads II, III, and aVF, with a distinctive 'spiked helmet' pattern. Troponin levels were mildly elevated, raising concerns for concurrent myocardial ischemia. However, the patient denied chest pain, and further cardiac evaluation, including echocardiography, showed no evidence of ischemia or infarction. Intensive care management included broad-spectrum antibiotics, intravenous fluids, and vasopressors. Despite the severity of his illness, the patient's condition gradually improved, and repeat ECGs showed resolution of the ST-segment elevations. The 'spiked helmet' sign was attributed to severe sepsis-induced autonomic dysfunction rather than primary cardiac pathology.

Conclusion: This case highlights the importance of recognizing the 'spiked helmet' sign as a marker of severe stress in critically ill patients, which may mimic myocardial ischemia on ECG. Prompt differentiation between this sign and true ischemia is crucial to avoid unnecessary interventions and focus on managing the underlying critical illness.