Clinical Medicine Insights. Case Reports最新文献

Pneumatosis intestinalis (PI) is characterized by the presence of air within the walls of the small intestine, large intestine, and sometimes the gastric wall. The mechanism and pathogenesis of PI are poorly understood. The discovery of PI can occur in the form of an incidental finding, such as a benign course or a life-threatening condition, such as intestinal ischemia. Point-of-care ultrasonography (POCUS) for pneumatosis intestinalis (PI) is rarely reported in adults, with only 1 previous poster presentation. However, POCUS is well-documented in the pediatric population, particularly for the diagnosis of intussusception. We present a 78-year-old man with longstanding uncorrected severe pulmonary stenosis, right-sided heart failure, atrial fibrillation on dabigatran, diabetes, and cirrhosis who presented with progressive abdominal distension. POCUS and computerized tomography of the abdomen showed ascites, diffusing small-bowel wall thickening with edema, and pneumatosis intestinalis, without portal venous gas or vascular occlusion. Patient was transitioned to palliative care on diuretics, lactulose; follow-up ultrasound showed only mild ascites but persistent small-bowel PI. This case report marks the second instance of POCUS being utilized for PI in an adult population. POCUS can play an essential diagnostic role at the bedside, ruling out serious underlying etiologies and guiding physicians in further diagnostic testing.

Methemoglobinemia is a rare but potentially life-threatening condition characterized by the oxidation of hemoglobin iron from ferrous (Fe²⁺) to ferric (Fe³⁺) state, impairing its oxygen-carrying capacity. Acquired forms can be triggered by exposure to oxidizing agents, such as nitrobenzene. We present the case of a 32-year-old female who developed symptomatic methemoglobinemia following oral ingestion of a commercial stimulant product containing nitrobenzene. She presented with peripheral cyanosis, breathlessness, and hypoxia unresponsive to oxygen therapy. A diagnosis of methemoglobinemia was confirmed, and prompt administration of intravenous methylene blue led to rapid clinical improvement. This case emphasizes the importance of early recognition of acquired methemoglobinemia in the context of toxic exposure, especially when conventional respiratory or cardiac pathology is excluded. Methylene blue remains the first-line antidote, offering effective and timely reversal of symptoms.

Background: Lumbar interbody fusion (LIF) is a widely used surgical technique for treating degenerative spinal conditions. However, challenges such as pseudarthrosis and implant migration remain significant concerns. This case report presents the use of a novel trabecular titanium cage combined with a biocomposite hydrogel containing stromal-vascular fraction and BMP-2 to enhance osseointegration and accelerate bone fusion.

Case presentation: A 61-year-old female patient with severe chronic lumbar pain, functional impairment, and grade II anterolisthesis of L4 underwent lumbar interbody fusion. A custom-designed trabecular titanium cage was implanted, featuring an optimized porous structure for enhanced fixation and bone ingrowth. To further promote bone regeneration, a biocomposite hydrogel synthesized from adipose-derived stromal-vascular fraction and BMP-2 was applied. Postoperative assessment demonstrated significant pain reduction, improved functional activity, and early bone fusion formation. Radiological imaging confirmed stable implant positioning, progressive trabecularization, and successful osseointegration. No complications, such as implant migration or material loosening, were observed.

Conclusions: This case highlights the potential benefits of combining advanced implant design with bioactive materials in spinal fusion surgery. The approach resulted in early and stable bone integration, reduced pain, and improved functional recovery. Further studies with larger patient cohorts and extended follow-up periods are needed to validate these findings and assess long-term outcomes.

Alien Hand Syndrome (AHS) is a rare neurological condition characterized by involuntary, goal-directed movements of a limb without conscious control. It is most often associated with stroke in specific brain regions, including the medial frontal and parietal cortices. We report the case of a 33-year-old male with no previous medical history who presented with involuntary movements of the left upper limb, describing it as "moving on its own." Neurological examination was unremarkable, but MRI revealed multiple cortical infarcts in the right frontal and parietal lobes, with both acute and subacute features. Extensive workup ruled out vascular stenosis, dissection, and hypercoagulable states. Transthoracic echocardiography showed normal left ventricular function and a hypermobile interatrial septum. Transesophageal echocardiography confirmed the presence of a tunnel-shaped patent foramen ovale (PFO; 0.4 mm × 0.3 mm) without thrombus. No deep vein thrombosis or other embolic sources were found. A diagnosis of cardioembolic stroke due to paradoxical embolism through a PFO was established. The patient underwent successful percutaneous closure and started dual antiplatelet therapy. At follow-up, AHS symptoms improved significantly. This case highlights an atypical initial presentation of ischemic stroke in a young adult and emphasizes the need for early neuroimaging and comprehensive cardiac evaluation in cryptogenic strokes.

Kawasaki disease (KD), a febrile vasculitis primarily affecting young children under 5, is commonly associated with coronary artery complications. This report describes the case of a 2.5-month-old infant presenting with a persistent 15-day fever, initially misidentified as pharyngitis and otitis media. Laboratory tests indicated significant leukocytosis, thrombocytosis, and increased C-reactive protein (CRP) levels. Echocardiography revealed coronary artery dilation and pericardial effusion, confirming a KD diagnosis. The infant received intravenous immunoglobulin (IVIG) and high-dose aspirin, which resolved the fever. Symptom recurrence necessitated additional IVIG and corticosteroid treatment. Subsequent imaging showed ongoing coronary dilation, emphasizing the risk of lasting vascular complications. This case underscores the diagnostic challenges of KD in infants, especially those with atypical presentations. Prompt diagnosis and treatment are critical to prevent serious complications such as coronary aneurysms. Healthcare providers should consider KD in infants with prolonged unexplained fevers to improve prognosis and minimize heart-related risks.

We report a case of acrocephalosyndactyly, Pfeiffer syndrome type 1 with a mutation in FGFR2 c.758C>G (p.Ser253Trp) in a newborn with mild midfacial hypoplasia, significant brachydactyly and syndactyly in the hands and feet. One of the hallmark features of Pfeiffer syndrome is webbing or fusion (syndactyly) of the fingers and toes, which can vary in severity affecting both hands and feet. This variable expressivity of Pfeiffer syndrome makes classification of the condition challenging. Diagnosis was confirmed by genetic testing. Imaging investigations, clinical observation and physical examination further highlights the importance of interdisciplinary care involving orthopedic, neurosurgeons, geneticists, and pediatricians. Long-term follow-up is essential to monitor growth and development, while addressing associated complications including hearing loss and tracheal stenosis. This case underscores the complexity of acrocephalosyndactyly and its varying presentation. The baby was born at 35 weeks to non-consanguineous parents, with craniosynostosis, midfacial hypoplasia, broad thumbs, and toes.

Acute lymphoblastic leukemia (ALL) rarely presents with initial liver failure. We describe a 9-year-old boy with no past medical history who presented with jaundice, hyperbilirubinemia (total bilirubin 13.1 mg/dL), and significantly elevated transaminases (ALT 1283 U/L, AST 1325 U/L). Bone marrow aspiration confirmed precursor B-cell ALL. Despite severe hepatic dysfunction, full-dose induction chemotherapy was administered following corticosteroid therapy, leading to rapid improvement in liver function and normalization by day 29. No complications were observed, and at the end of induction, minimal residual disease was 0.001%. This case of successful unadjusted chemotherapy, with leukemic infiltration identified as the etiology of hepatitis, underscores the importance of early diagnosis, multidisciplinary management, close monitoring, and highlights the need for further investigation into safe treatment protocols in such cases.

Introduction: Tracheostomy is a vital airway procedure for critically ill patients with acute respiratory failure. This study presents a rare but serious complication: the fracture and migration of a tracheostomy tube into the tracheobronchial tree, and discusses its management.

Case presentation: A 43-year-old male, with a tracheostomy tube in place for 8 years following a neck blast injury, presented with a foreign body in his airway. Chest X-ray revealed a fractured metallic tracheostomy tube lodged in the left main bronchus. The tube was successfully removed by rigid bronchoscopy under general anesthesia, and the patient was discharged in good condition with a new tracheostomy tube.

Discussion: Tracheostomy tubes, typically made of polyvinyl chloride or metal, can fracture due to prolonged use without regular check-ups, or replacement. Patients may present with mild respiratory symptoms or be asymptomatic. Diagnosis is confirmed by X-ray, and removal is performed via rigid bronchoscopy.

Conclusion: Fractured tracheostomy tubes are a rare but potentially fatal complication requiring urgent bronchoscopy. Regular follow-up, proper care, timely tube replacement, and patient education are essential to prevent such occurrences.

Introduction: Malignant hyperthermia (MH) is a fatal hypermetabolic reaction of skeletal muscle, triggered by exposure to volatile anesthetic agents or depolarizing muscle relaxants. It typically exhibits hypercarbia, muscle rigidity, tachycardia, and hyperthermia. Diagnosis is often confirmed through a muscle biopsy for the in vitro contracture test or by identifying pathogenic genetic variants.

Case presentation: We report 2 cases of suspected MH. The first case involved a 4-year-old female (20 kg) undergoing adenotonsillectomy, and the second involved a 13-year-old female (56 kg) who underwent pedicle screw fixation surgery. Both patients had unremarkable medical histories. During maintenance of general anesthesia with sevoflurane, they developed clinical signs highly suggestive of MH-10 minutes after exposure in the first case and 120 minutes after exposure in the second case. Both cases were managed with dantrolene and supportive care. In the first case, dantrolene was administered 4 hours after the initial signs, by which time significant rhabdomyolysis had already developed. In the second case, early administration within 10 minutes was associated with a much milder degree of rhabdomyolysis.

Conclusion: Early recognition of symptoms and accurate differentiation of MH from similar conditions are essential for favorable outcomes. Prompt administration of dantrolene at the first sign of an MH reaction is critical for effective management.

Introduction: Tirzepatide is a new molecule capable of controlling blood glucose levels by combining the dual agonism of glucose-dependent insulinotropic polypeptide (GIP) and glucose-like peptide-1 (GLP-1) receptors. The Food and Drug Administration approved tirzepatide subcutaneous injections as monotherapy or combination therapy, with diet and physical exercise. Its influence on sexual behavior as an adverse effect is not well known.

Aims: The purpose of this report was to present a case study of an obese female patient who received tirzepatide treatment for sexual dysfunction.

Methods: We performed an extensive clinical evaluation, which included the Female Sexual Function Index (FSFI). Metabolic, hormonal, immunologic, and hematologic etiology of sexual dysfunction was ruled out by laboratory examination. The patient was managed by a multimodal approach, with lifestyle modification, pelvic floor strengthening exercises, pharmacologic management with bupropion sustained release 150 to 400 mg per day and topical lubricants, and psychosexual therapy as needed. FSFI scores were longitudinally followed to assess treatment response.

Results: A 36-year-old woman with obesity class III developed sexual dysfunction after using tirzepatide, a healthy lifestyle with a carb cycle diet, greater physical activity, and exercise for losing weight. All physical, psychological, and hormonal parameters were normal. During treatment, the patient started to complain of decreasing sexual drive, genital dryness, and failure to catch orgasm; female sexual function index (FSFI) = 12.7. Symptoms decreased after stopping the tirzepetide (FSFI = 28.7) and reappeared after retaking the injection (FSFI = 14.7). After 1 month of sexual treatment and support, FSFI = 24.

Conclusion: The drug's impact on hormones and neurological pathways may contribute to decreased sexual desire, through the specific process is unknown. Adjuvant sexual education and therapy support has an imperative role in the plan of management in cases on going in the journey of reducing their weight and complaining of sexual performance affection.