Case Reports in Medicine最新文献

Introduction: Bardet-Biedl syndrome (BBS) is a rare autosomal recessive ciliopathy characterized by multisystem involvement, with renal pathology, including end-stage renal disease, being a major cause of morbidity and mortality.

Case presentation: This case report presents a 14-year-old boy with BBS and end-stage renal disease who underwent a successful living donor kidney transplantation, marking the first reported case in Azerbaijan. Despite multiple comorbidities, including obesity, hypertension, and high panel reactive antibody levels, the patient achieved stable graft function with a rapid postoperative creatinine decline. Postoperative management focused on immunosuppression and lifestyle adjustments.

Conclusion: This case contributes to the limited literature on BBS, highlighting both the challenges and favorable outcomes of renal transplantation in patients with this rare genetic disorder.

Drug-induced thrombotic microangiopathy is a rare cause of microangiopathic hemolytic anemia. Tacrolimus is a commonly used immunosuppressive agent postorgan transplant. Due to life-threatening complications associated with microangiopathic hemolytic anemia, it is essential to have a high clinical suspicion for this drug-induced microangiopathy. Here, we present a case of suspected drug-induced thrombotic microangiopathy secondary to long-term tacrolimus use. Although it is difficult to entirely exclude alternative causes of TMA when presented with this rare pathology, clinicians must remain vigilant of this association with tacrolimus use when there is a high suspicion for TMA. To date, few case reports have highlighted this association with chronic calcineurin use. Our case highlights the need for further research into this association.

Background: Pleural effusion (PE) is a frequent clinical condition with diverse etiologies including heart failure, infections, and malignancies. While the color of pleural fluid is rarely considered diagnostic, unusual discolorations may offer important clinical clues. We report what appears to be only the third documented case of purple PE (PPE) in the medical literature. This case was associated with Acinetobacter baumannii infection, a rarely reported cause of PPE, providing additional insight into its potential pathophysiology.

Case presentation: A 54 year-old obese male with multiple comorbidities-including COPD, heart failure, and recent pulmonary embolism-was admitted with acute respiratory failure. He was found to have a right-sided PE requiring drainage. Initial fluid analysis revealed an exudative, lymphocyte-predominant effusion with no evidence of infection. However, the fluid in the drainage bag gradually turned deep purple, and Acinetobacter baumannii was later isolated from the catheter and collection bag. The patient was treated with colistin and meropenem, with full clinical recovery and resolution of discoloration.

Discussion: Although the exact mechanism remains unclear, PPE may share pathophysiologic pathways with Purple Urine Bag Syndrome, involving bacterial metabolism of tryptophan-derived compounds. This case highlights the importance of visual inspection of pleural fluid and emphasizes that unusual discoloration-while not diagnostic in itself-should prompt thorough microbiological and biochemical evaluation.

Key clinical message: Unusual pleural fluid discoloration should prompt immediate microbiological evaluation, as it may indicate infection with uncommon or multidrug-resistant organisms, even in the absence of typical infection signs.

Head and neck tumors can rarely cause carotid sinus syndrome (CSS), a condition characterized by bradycardia, hypotension, and syncope. A 68-year-old male with advanced laryngeal cancer presented with syncope. Examination revealed a fixed 5 cm submandibular mass. Computed tomography angiography (CTA) neck showed a large mass encasing the carotid arteries. During the hospital stay, the patient experienced recurrent bradycardia and hypotension, which were resolved when his neck was turned to the left. Diagnosis of mixed-subtype CSS secondary to tumor compression was assumed. Blood tests, EKG, and CT imaging ruled out other causes. The tumor's encasement of the carotid arteries likely triggered the carotid sinus reflex during head movement. Both cardioinhibitory and vasodepressor components were present, suggesting a mixed subtype of CSS. CSS should be considered in patients with head and neck cancer, presenting with unexplained bradycardia or hypotension. Multidisciplinary management is the key to accurate diagnosis and treatment.

Background: Homozygous familial hypercholesterolemia (HoFH) is a rare, autosomal dominant disorder characterized by severely elevated low-density lipoprotein cholesterol (LDL-C), leading to premature cardiovascular disease. Early diagnosis is critical but often delayed due to limited access to genetic testing, particularly in regions with high consanguinity.

Case presentation: A 23-year-old Persian woman, born to consanguineous parents, presented with tendon and cutaneous xanthomas, bilateral corneal arcus, and hand deformities resembling rheumatoid arthritis. Her medical history included childhood hypercholesterolemia, and her family history revealed premature myocardial infarction in her mother. Laboratory results showed markedly elevated LDL-C (509 mg/dL). Diagnosis was confirmed clinically using Dutch Lipid Clinic Network and Simon Broome criteria, as genetic testing was unavailable.

Interventions and outcomes: Initial therapy with rosuvastatin (40 mg) and ezetimibe (10 mg) failed to achieve LDL-C targets. Evolocumab (420 mg monthly) was added, resulting in an 82% reduction in LDL-C (from 509 to 89 mg/dL) and partial regression of xanthomas.

Conclusion: This case highlights the diagnostic challenges of HoFH in resource-limited settings and underscores the importance of clinical criteria when genetic testing is inaccessible. Aggressive lipid-lowering therapy, including PCSK9 inhibitors, is essential for managing HoFH and mitigating cardiovascular risk. Early recognition of physical signs (e.g., xanthomas and corneal arcus) and family screening are crucial for timely intervention.

Fungal infections are a significant global health concern, resulting in over 1.5 million deaths annually. Among these, Candida albicans remains a prominent pathogen responsible for various cutaneous conditions, despite its typical role as a benign commensal organism. This case report details a 54-year-old male patient with a cutaneous abscess attributed to C. albicans, likely exacerbated by prolonged betamethasone injections for respiratory issues stemming from chemical exposure during the Iran-Iraq War. The patient presented with a month-long history of progressive hand swelling and pain, exacerbated despite antibiotic treatment. Clinical examination and imaging revealed a significant fluid collection in the affected wrist, prompting surgical drainage. Subsequent culture confirmed the presence of C. albicans, while blood cultures remained negative, underscoring the localized nature of the infection. This report highlights the opportunistic potential of C. albicans, particularly in immunocompromised individuals, and emphasizes the importance of considering fungal infections in patients with prolonged corticosteroid use. The patient responded favorably to oral fluconazole, with complete resolution of symptoms by follow-up. This case illustrates the need for awareness and prompt identification of fungal infections in at-risk populations, advocating for a more comprehensive approach to patient management in similar clinical scenarios.

Apixaban is a direct Factor Xa inhibitor that has been increasingly prescribed, particularly for stroke prevention in atrial fibrillation. While safer than warfarin, it still carries bleeding risks, including epistaxis, which is commonly managed with nasal packing. We report a 75-year-old woman on apixaban who developed methicillin-resistant Staphylococcus aureus (MRSA) bacteremia after nasal packing for epistaxis. She presented a few weeks later with worsening back pain and was diagnosed with L2-L3 vertebral osteomyelitis from MRSA. The case highlights the rare risk of distant osteomyelitis following nasal packing and the importance of evaluating changes in chronic pain.

Background: Infantile hemangiomas (IHs) are the most common vascular tumors of infancy, but airway involvement is rare and potentially life-threatening. While subglottic and laryngeal regions are most frequently affected, nasopharyngeal hemangiomas are exceptionally uncommon, particularly in premature infants presenting with nonspecific symptoms such as apnea and cyanosis. Case Presentation: We describe a female infant born prematurely at 35 weeks via cesarean section, who developed recurrent apnea and cyanotic episodes shortly after discharge. Flexible bronchoscopy revealed a nasopharyngeal mass causing upper airway obstruction, and imaging raised suspicion of a hemangioma. The patient underwent surgical excision of the lesion and was started on a tapering course of prednisolone. Postoperative recovery was favorable, and oral propranolol was initiated to prevent recurrence. At follow-up, the patient demonstrated normal development without respiratory symptoms. Conclusion: Nasopharyngeal hemangiomas are rare and may present subtly in premature infants. Early bronchoscopy and imaging should be considered in cases of unexplained apnea or airway compromise. A multidisciplinary approach ensures timely diagnosis and effective treatment, minimizing long-term respiratory complications.

Thrombosis is a major clinical issue, affecting venous and arterial circulation, increasing morbidity and mortality. While thrombophilia syndromes are established, new genetic polymorphisms in the hyaluronan binding protein 2 (HABP2) gene are not well understood. A 31-year-old man, a smoker, presented with multiple thrombotic events: ST-elevation myocardial infarction (STEMI), ischemic stroke, and left upper limb deep venous thrombosis. On arrival, he experienced ventricular fibrillation, needing resuscitation and percutaneous coronary intervention. During his hospital stay, he developed severe thrombocytopenia, rhabdomyolysis, and acute kidney injury. Extensive thrombophilia workup, including whole exome sequencing, revealed a heterozygous HABP2 variant linked to thrombotic risk. His condition required a multidisciplinary approach. Genetic findings informed antithrombotic treatment and emphasized family screening. More research is needed on HABP2 in thrombosis.

Condyloma lata is a typical lesion of secondary syphilis, which usually occurs in the flexural and anogenital areas. Secondary syphilis can be misdiagnosed with atypical clinical manifestations that can mimic other skin diseases (the great imitator), especially in patients with human immunodeficiency virus (HIV) infection. Atypical condyloma lata lesions can occur outside the flexural and extragenital areas. Therefore, it can mimic other skin diseases. This case report aims to report a case of secondary syphilis in the form of extensive condyloma lata lesions in unusual sites in a 46-year-old man with HIV Stage II. Physical examination revealed flat papules and plaques on the face, trunk, and anogenital area; papules with excoriations on the extremities; and mucous patches. Treponema pallidum hemagglutination assay and Venereal Disease Research Laboratory (VDRL) titer were 1:5120 and 1:256, respectively. The Chlamydia trachomatis and hepatitis C examination, as well as CD4+ T cell count and HIV viral loads data, were unavailable for this patient. Histopathological findings from flat papules on the patient's face, abdomen, and inguinal region showed eroded epidermis with neutrophil infiltration, spongiotic reactions, acanthosis, parakeratosis, hypogranulosis, superficial pallor, and endarteritis with the infiltration of plasmocytes and polymorphonuclear cells, which support that the patient's lesion is condyloma lata. The patient was treated with a single dose of 2.4 million units of benzylpenicillin G intramuscularly. The result of VDRL titer examination after 3 months of therapy was 1:32, with improvement in the skin lesions seen as the lesions that became hyperpigmentation macules. This case report showed condyloma lata, a hallmark of secondary syphilis, can present as extensive lesions in extragenital sites. Awareness of the atypical manifestations is essential to ensure early diagnosis through histopathological and serological evaluation.